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Anatomy of a Scholarly Article

TIP: When possible, keep your research question(s) in mind when reading scholarly articles. It will help you to focus your reading.

Title : Generally are straightforward and describe what the article is about. Titles often include relevant key words.

Abstract : A summary of the author(s)'s research findings and tells what to expect when you read the full article. It is often a good idea to read the abstract first, in order to determine if you should even bother reading the whole article.

Discussion and Conclusion : Read these after the Abstract (even though they come at the end of the article). These sections can help you see if this article will meet your research needs. If you don’t think that it will, set it aside.

Introduction : Describes the topic or problem researched. The authors will present the thesis of their argument or the goal of their research.

Literature Review : May be included in the introduction or as its own separate section. Here you see where the author(s) enter the conversation on this topic. That is to say, what related research has come before, and how do they hope to advance the discussion with their current research?

Methods : This section explains how the study worked. In this section, you often learn who and how many participated in the study and what they were asked to do. You will need to think critically about the methods and whether or not they make sense given the research question.

Results : Here you will often find numbers and tables. If you aren't an expert at statistics this section may be difficult to grasp. However you should attempt to understand if the results seem reasonable given the methods.

Works Cited (also be called References or Bibliography ): This section comprises the author(s)’s sources. Always be sure to scroll through them. Good research usually cites many different kinds of sources (books, journal articles, etc.). As you read the Works Cited page, be sure to look for sources that look like they will help you to answer your own research question.

Adapted from http://library.hunter.cuny.edu/research-toolkit/how-do-i-read-stuff/anatomy-of-a-scholarly-article

A research journal is a periodical that contains articles written by experts in a particular field of study who report the results of research in that field. The articles are intended to be read by other experts or students of the field, and they are typically much more sophisticated and advanced than the articles found in general magazines. This guide offers some tips to help distinguish scholarly journals from other periodicals.

CHARACTERISTICS OF RESEARCH JOURNALS

PURPOSE : Research journals communicate the results of research in the field of study covered by the journal. Research articles reflect a systematic and thorough study of a single topic, often involving experiments or surveys. Research journals may also publish review articles and book reviews that summarize the current state of knowledge on a topic.

APPEARANCE : Research journals lack the slick advertising, classified ads, coupons, etc., found in popular magazines. Articles are often printed one column to a page, as in books, and there are often graphs, tables, or charts referring to specific points in the articles.

AUTHORITY : Research articles are written by the person(s) who did the research being reported. When more than two authors are listed for a single article, the first author listed is often the primary researcher who coordinated or supervised the work done by the other authors. The most highly‑regarded scholarly journals are typically those sponsored by professional associations, such as the American Psychological Association or the American Chemical Society.

VALIDITY AND RELIABILITY : Articles submitted to research journals are evaluated by an editorial board and other experts before they are accepted for publication. This evaluation, called peer review, is designed to ensure that the articles published are based on solid research that meets the normal standards of the field of study covered by the journal. Professors sometimes use the term "refereed" to describe peer-reviewed journals.

WRITING STYLE : Articles in research journals usually contain an advanced vocabulary, since the authors use the technical language or jargon of their field of study. The authors assume that the reader already possesses a basic understanding of the field of study.

REFERENCES : The authors of research articles always indicate the sources of their information. These references are usually listed at the end of an article, but they may appear in the form of footnotes, endnotes, or a bibliography.

PERIODICALS THAT ARE NOT RESEARCH JOURNALS

POPULAR MAGAZINES : These are periodicals that one typically finds at grocery stores, airport newsstands, or bookstores at a shopping mall. Popular magazines are designed to appeal to a broad audience, and they usually contain relatively brief articles written in a readable, non‑technical language.

Examples include: Car and Driver , Cosmopolitan , Esquire , Essence , Gourmet , Life , People Weekly , Readers' Digest , Rolling Stone , Sports Illustrated , Vanity Fair , and Vogue .

NEWS MAGAZINES : These periodicals, which are usually issued weekly, provide information on topics of current interest, but their articles seldom have the depth or authority of scholarly articles.

Examples include: Newsweek , Time , U.S. News and World Report .

OPINION MAGAZINES : These periodicals contain articles aimed at an educated audience interested in keeping up with current events or ideas, especially those pertaining to topical issues. Very often their articles are written from a particular political, economic, or social point of view.

Examples include: Catholic World , Christianity Today , Commentary , Ms. , The Militant , Mother Jones , The Nation , National Review , The New Republic , The Progressive , and World Marxist Review .

TRADE MAGAZINES : People who need to keep up with developments in a particular industry or occupation read these magazines. Many trade magazines publish one or more special issues each year that focus on industry statistics, directory lists, or new product announcements.

Examples include: Beverage World , Progressive Grocer , Quick Frozen Foods International , Rubber World , Sales and Marketing Management , Skiing Trade News , and Stores .

Literature Reviews

• Literature Review Guide General information on how to organize and write a literature review.
• The Literature Review: A Few Tips On Conducting It Contains two sets of questions to help students review articles, and to review their own literature reviews.
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Types of journal articles

It is helpful to familiarise yourself with the different types of articles published by journals. Although it may appear there are a large number of types of articles published due to the wide variety of names they are published under, most articles published are one of the following types; Original Research, Review Articles, Short reports or Letters, Case Studies, Methodologies.

Original Research:

This is the most common type of journal manuscript used to publish full reports of data from research. It may be called an  Original Article, Research Article, Research, or just  Article, depending on the journal. The Original Research format is suitable for many different fields and different types of studies. It includes full Introduction, Methods, Results, and Discussion sections.

Short reports or Letters:

These papers communicate brief reports of data from original research that editors believe will be interesting to many researchers, and that will likely stimulate further research in the field. As they are relatively short the format is useful for scientists with results that are time sensitive (for example, those in highly competitive or quickly-changing disciplines). This format often has strict length limits, so some experimental details may not be published until the authors write a full Original Research manuscript. These papers are also sometimes called Brief communications .

Review Articles:

Review Articles provide a comprehensive summary of research on a certain topic, and a perspective on the state of the field and where it is heading. They are often written by leaders in a particular discipline after invitation from the editors of a journal. Reviews are often widely read (for example, by researchers looking for a full introduction to a field) and highly cited. Reviews commonly cite approximately 100 primary research articles.

TIP: If you would like to write a Review but have not been invited by a journal, be sure to check the journal website as some journals to not consider unsolicited Reviews. If the website does not mention whether Reviews are commissioned it is wise to send a pre-submission enquiry letter to the journal editor to propose your Review manuscript before you spend time writing it.  

Case Studies:

These articles report specific instances of interesting phenomena. A goal of Case Studies is to make other researchers aware of the possibility that a specific phenomenon might occur. This type of study is often used in medicine to report the occurrence of previously unknown or emerging pathologies.

Methodologies or Methods

These articles present a new experimental method, test or procedure. The method described may either be completely new, or may offer a better version of an existing method. The article should describe a demonstrable advance on what is currently available.

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Research articles

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APA Style (7th Edition) Citation Guide: Journal Articles

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Table of Contents

Journal article from library database with doi - one author, journal article from library database with doi - multiple authors, journal article from a website - one author.

Journal Article- No DOI

Note: All citations should be double spaced and have a hanging indent in a Reference List.

A "hanging indent" means that each subsequent line after the first line of your citation should be indented by 0.5 inches.

This Microsoft support page contains instructions about how to format a hanging indent in a paper.

• APA 7th. ed. Journal Article Reference Checklist

If an item has no author, start the citation with the article title.

When an article has one to twenty authors, all authors' names are cited in the References List entry. When an article has twenty-one or more authors list the first nineteen authors followed by three spaced ellipse points (. . .) , and then the last author's name. Rules are different for in-text citations; please see the examples provided.

Cite author names in the order in which they appear on the source, not in alphabetical order (the first author is usually the person who contributed the most work to the publication).

Italicize titles of journals, magazines and newspapers. Do not italicize or use quotation marks for the titles of articles.

Capitalize only the first letter of the first word of the article title. If there is a colon in the article title, also capitalize the first letter of the first word after the colon.

If an item has no date, use the short form n.d. where you would normally put the date.

Volume and Issue Numbers

Italicize volume numbers but not issue numbers.

Retrieval Dates

Most articles will not need these in the citation. Only use them for online articles from places where content may change often, like a free website or a wiki.

Page Numbers

If an article doesn't appear on continuous pages, list all the page numbers the article is on, separated by commas. For example (4, 6, 12-14)

Library Database

Do not include the name of a database for works obtained from most academic research databases (e.g. APA PsycInfo, CINAHL) because works in these resources are widely available. Exceptions are Cochrane Database of Systematic Reviews, ERIC, ProQuest Dissertations, and UpToDate.

Include the DOI (formatted as a URL: https://doi.org/...) if it is available. If you do not have a DOI, include a URL if the full text of the article is available online (not as part of a library database). If the full text is from a library database, do not include a DOI, URL, or database name.

In the Body of a Paper

Books, Journals, Reports, Webpages, etc.: When you refer to titles of a “stand-alone work,” as the APA calls them on their APA Style website, such as books, journals, reports, and webpages, you should italicize them. Capitalize words as you would for an article title in a reference, e.g., In the book Crying in H Mart: A memoir , author Michelle Zauner (2021) describes her biracial origin and its impact on her identity.

Article or Chapter: When you refer to the title of a part of a work, such as an article or a chapter, put quotation marks around the title and capitalize it as you would for a journal title in a reference, e.g., In the chapter “Where’s the Wine,” Zauner (2021) describes how she decided to become a musician.

The APA Sample Paper below has more information about formatting your paper.

• APA 7th ed. Sample Paper

Author's Last Name, First Initial. Second Initial if Given. (Year of Publication). Title of article: Subtitle if any. Name of Journal, Volume Number (Issue Number), first page number-last page number. https://doi.org/doi number

Smith, K. F. (2022). The public and private dialogue about the American family on television: A second look. Journal of Media Communication, 50 (4), 79-110. https://doi.org/10.1152/j.1460-2466.2000.tb02864.x

Note: The DOI number is formatted as a URL: https://doi.org/10.1152/j.1460-2466.2000.tb02864.xIf

In-Text Paraphrase:

(Author's Last Name, Year)

Example: (Smith, 2000)

In-Text Quote:

(Author's Last Name, Year, p. Page Number)

Example: (Smith, 2000, p. 80)

Author's Last Name, First Initial. Second Initial if Given., & Last Name of Second Author, First Initial. Second Initial if Given. (Year of Publication). Title of article: Subtitle if any. Name of Journal, Volume Number (Issue Number), first page number-last page number. https://doi.org/doi number

Note: Separate the authors' names by putting a comma between them. For the final author listed add an ampersand (&) after the comma and before the final author's last name.

Note: In the reference list invert all authors' names; give last names and initials for only up to and including 20 authors. When a source has 21 or more authors, include the first 19 authors’ names, then three ellipses (…), and add the last author’s name. Don't include an ampersand (&) between the ellipsis and final author.

Note : For works with three or more authors, the first in-text citation is shortened to include the first author's surname followed by "et al."

Reference List Examples

Two to 20 Authors

Case, T. A., Daristotle, Y. A., Hayek, S. L., Smith, R. R., & Raash, L. I. (2011). College students' social networking experiences on Facebook. Journal of Applied Developmental Psychology, 3 (2), 227-238. https://doi.org/10.1016/j.appdev.2008.12.010

21 or more authors

Kalnay, E., Kanamitsu, M., Kistler, R., Collins, W., Deaven, D., Gandin, L., Iredell, M., Saha, J., Mo, K. C., Ropelewski, C., Wang, J., Leetma, A., . . . Joseph, D. (1996). The NCEP/NCAR 40-year reanalysis project. Bulletin of the American Meteorological Society , 77 (3), 437-471. https://doi.org/10.1175/1520-0477(1996)077<0437:TNYRP>2.0.CO;2

In-Text Citations

Two Authors/Editors

(Case & Daristotle, 2011)

Direct Quote: (Case & Daristotle, 2011, p. 57)

Three or more Authors/Editors

(Case et al., 2011)

Direct Quote: (Case et al., 2011, p. 57)

Author's Last Name, First Initial. Second Initial if Given. (Year of Publication). Title of article: Subtitle if any.  Name of Journal, Volume Number (Issue Number if given). URL

Flachs, A. (2010). Food for thought: The social impact of community gardens in the Greater Cleveland Area.  Electronic Green Journal, 1 (30). http://escholarship.org/uc/item/6bh7j4z4

Example: (Flachs, 2010)

Example: (Flachs, 2010, Conclusion section, para. 3)

Note: In this example there were no visible page numbers or paragraph numbers; in this case you can cite the section heading and the number of the paragraph in that section to identify where your quote came from. If there are no page or paragraph numbers and no marked section, leave this information out.

Journal Article - No DOI

Author's Last Name, First Initial. Second Initial if Given. (Year of Publication). Title of article: Subtitle if any.  Name of Journal, Volume Number (Issue Number), first page number-last page number. URL [if article is available online, not as part of a library database]

Full-Text Available Online (Not as Part of a Library Database):

Steinberg, M. P., & Lacoe, J. (2017). What do we know about school discipline reform? Assessing the alternatives to suspensions and expulsions.  Education Next, 17 (1), 44–52.  https://www.educationnext.org/what-do-we-know-about-school-discipline-reform-suspensions-expulsions/

Example: (Steinberg & Lacoe, 2017)

(Author's Last Name, Year, p. Page number)

Example: (Steinberg & Lacoe, 2017, p. 47)

Full-Text Available in Library Database:

Jungers, W. L. (2010). Biomechanics: Barefoot running strikes back.  Nature, 463 (2), 433-434.

Example: (Jungers, 2010)

Example: (Jungers, 2010, p. 433)

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New Content From Advances in Methods and Practices in Psychological Science

• Advances in Methods and Practices in Psychological Science
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• Methodology
• Preregistration
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A Practical Guide to Conversation Research: How to Study What People Say to Each Other Michael Yeomans, F. Katelynn Boland, Hanne Collins, Nicole Abi-Esber, and Alison Wood Brooks  

Conversation—a verbal interaction between two or more people—is a complex, pervasive, and consequential human behavior. Conversations have been studied across many academic disciplines. However, advances in recording and analysis techniques over the last decade have allowed researchers to more directly and precisely examine conversations in natural contexts and at a larger scale than ever before, and these advances open new paths to understand humanity and the social world. Existing reviews of text analysis and conversation research have focused on text generated by a single author (e.g., product reviews, news articles, and public speeches) and thus leave open questions about the unique challenges presented by interactive conversation data (i.e., dialogue). In this article, we suggest approaches to overcome common challenges in the workflow of conversation science, including recording and transcribing conversations, structuring data (to merge turn-level and speaker-level data sets), extracting and aggregating linguistic features, estimating effects, and sharing data. This practical guide is meant to shed light on current best practices and empower more researchers to study conversations more directly—to expand the community of conversation scholars and contribute to a greater cumulative scientific understanding of the social world. 

Open-Science Guidance for Qualitative Research: An Empirically Validated Approach for De-Identifying Sensitive Narrative Data Rebecca Campbell, McKenzie Javorka, Jasmine Engleton, Kathryn Fishwick, Katie Gregory, and Rachael Goodman-Williams  

The open-science movement seeks to make research more transparent and accessible. To that end, researchers are increasingly expected to share de-identified data with other scholars for review, reanalysis, and reuse. In psychology, open-science practices have been explored primarily within the context of quantitative data, but demands to share qualitative data are becoming more prevalent. Narrative data are far more challenging to de-identify fully, and because qualitative methods are often used in studies with marginalized, minoritized, and/or traumatized populations, data sharing may pose substantial risks for participants if their information can be later reidentified. To date, there has been little guidance in the literature on how to de-identify qualitative data. To address this gap, we developed a methodological framework for remediating sensitive narrative data. This multiphase process is modeled on common qualitative-coding strategies. The first phase includes consultations with diverse stakeholders and sources to understand reidentifiability risks and data-sharing concerns. The second phase outlines an iterative process for recognizing potentially identifiable information and constructing individualized remediation strategies through group review and consensus. The third phase includes multiple strategies for assessing the validity of the de-identification analyses (i.e., whether the remediated transcripts adequately protect participants’ privacy). We applied this framework to a set of 32 qualitative interviews with sexual-assault survivors. We provide case examples of how blurring and redaction techniques can be used to protect names, dates, locations, trauma histories, help-seeking experiences, and other information about dyadic interactions. 

Impossible Hypotheses and Effect-Size Limits Wijnand van Tilburg and Lennert van Tilburg

Psychological science is moving toward further specification of effect sizes when formulating hypotheses, performing power analyses, and considering the relevance of findings. This development has sparked an appreciation for the wider context in which such effect sizes are found because the importance assigned to specific sizes may vary from situation to situation. We add to this development a crucial but in psychology hitherto underappreciated contingency: There are mathematical limits to the magnitudes that population effect sizes can take within the common multivariate context in which psychology is situated, and these limits can be far more restrictive than typically assumed. The implication is that some hypothesized or preregistered effect sizes may be impossible. At the same time, these restrictions offer a way of statistically triangulating the plausible range of unknown effect sizes. We explain the reason for the existence of these limits, illustrate how to identify them, and offer recommendations and tools for improving hypothesized effect sizes by exploiting the broader multivariate context in which they occur. 

It’s All About Timing: Exploring Different Temporal Resolutions for Analyzing Digital-Phenotyping Data Anna Langener, Gert Stulp, Nicholas Jacobson, Andrea Costanzo, Raj Jagesar, Martien Kas, and Laura Bringmann  

The use of smartphones and wearable sensors to passively collect data on behavior has great potential for better understanding psychological well-being and mental disorders with minimal burden. However, there are important methodological challenges that may hinder the widespread adoption of these passive measures. A crucial one is the issue of timescale: The chosen temporal resolution for summarizing and analyzing the data may affect how results are interpreted. Despite its importance, the choice of temporal resolution is rarely justified. In this study, we aim to improve current standards for analyzing digital-phenotyping data by addressing the time-related decisions faced by researchers. For illustrative purposes, we use data from 10 students whose behavior (e.g., GPS, app usage) was recorded for 28 days through the Behapp application on their mobile phones. In parallel, the participants actively answered questionnaires on their phones about their mood several times a day. We provide a walk-through on how to study different timescales by doing individualized correlation analyses and random-forest prediction models. By doing so, we demonstrate how choosing different resolutions can lead to different conclusions. Therefore, we propose conducting a multiverse analysis to investigate the consequences of choosing different temporal resolutions. This will improve current standards for analyzing digital-phenotyping data and may help combat the replications crisis caused in part by researchers making implicit decisions. 

Calculating Repeated-Measures Meta-Analytic Effects for Continuous Outcomes: A Tutorial on Pretest–Posttest-Controlled Designs David R. Skvarc, Matthew Fuller-Tyszkiewicz  

Meta-analysis is a statistical technique that combines the results of multiple studies to arrive at a more robust and reliable estimate of an overall effect or estimate of the true effect. Within the context of experimental study designs, standard meta-analyses generally use between-groups differences at a single time point. This approach fails to adequately account for preexisting differences that are likely to threaten causal inference. Meta-analyses that take into account the repeated-measures nature of these data are uncommon, and so this article serves as an instructive methodology for increasing the precision of meta-analyses by attempting to estimate the repeated-measures effect sizes, with particular focus on contexts with two time points and two groups (a between-groups pretest–posttest design)—a common scenario for clinical trials and experiments. In this article, we summarize the concept of a between-groups pretest–posttest meta-analysis and its applications. We then explain the basic steps involved in conducting this meta-analysis, including the extraction of data and several alternative approaches for the calculation of effect sizes. We also highlight the importance of considering the presence of within-subjects correlations when conducting this form of meta-analysis.   

Reliability and Feasibility of Linear Mixed Models in Fully Crossed Experimental Designs Michele Scandola, Emmanuele Tidoni  

The use of linear mixed models (LMMs) is increasing in psychology and neuroscience research In this article, we focus on the implementation of LMMs in fully crossed experimental designs. A key aspect of LMMs is choosing a random-effects structure according to the experimental needs. To date, opposite suggestions are present in the literature, spanning from keeping all random effects (maximal models), which produces several singularity and convergence issues, to removing random effects until the best fit is found, with the risk of inflating Type I error (reduced models). However, defining the random structure to fit a nonsingular and convergent model is not straightforward. Moreover, the lack of a standard approach may lead the researcher to make decisions that potentially inflate Type I errors. After reviewing LMMs, we introduce a step-by-step approach to avoid convergence and singularity issues and control for Type I error inflation during model reduction of fully crossed experimental designs. Specifically, we propose the use of complex random intercepts (CRIs) when maximal models are overparametrized. CRIs are multiple random intercepts that represent the residual variance of categorical fixed effects within a given grouping factor. We validated CRIs and the proposed procedure by extensive simulations and a real-case application. We demonstrate that CRIs can produce reliable results and require less computational resources. Moreover, we outline a few criteria and recommendations on how and when scholars should reduce overparametrized models. Overall, the proposed procedure provides clear solutions to avoid overinflated results using LMMs in psychology and neuroscience.   

Understanding Meta-Analysis Through Data Simulation With Applications to Power Analysis Filippo Gambarota, Gianmarco Altoè  

Meta-analysis is a powerful tool to combine evidence from existing literature. Despite several introductory and advanced materials about organizing, conducting, and reporting a meta-analysis, to our knowledge, there are no introductive materials about simulating the most common meta-analysis models. Data simulation is essential for developing and validating new statistical models and procedures. Furthermore, data simulation is a powerful educational tool for understanding a statistical method. In this tutorial, we show how to simulate equal-effects, random-effects, and metaregression models and illustrate how to estimate statistical power. Simulations for multilevel and multivariate models are available in the Supplemental Material available online. All materials associated with this article can be accessed on OSF ( https://osf.io/54djn/ ).   

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Giustini AJ , Schroeder AR , Axelrod DM. Trends in Views of Articles Published in 3 Leading Medical Journals During the COVID-19 Pandemic. JAMA Netw Open. 2021;4(4):e216459. doi:10.1001/jamanetworkopen.2021.6459

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Trends in Views of Articles Published in 3 Leading Medical Journals During the COVID-19 Pandemic

• 1 Department of Anesthesiology, Stanford University School of Medicine, Stanford, California
• 2 Department of Pediatrics, Stanford University School of Medicine, Stanford, California

The COVID-19 pandemic is changing the peer review, publication, and readership of scientific articles. 1 - 3 The scientific community has voiced concern that the focus on COVID-19 adversely affects dissemination of research into other diseases. 4 , 5 Recently, the number of article views has been recognized as a metric for article impact. 6 In this study, we sought to assess the trends in views of articles published in 3 leading medical journals during the pandemic.

Because no patients were involved in this study (only analysis of journal article reads), we did not obtain institutional review board approval or informed consent. To assess changes in views of medical scientific articles, in this cross-sectional study we examined full and PDF views of articles published by 3 widely read, English-language, general medical journals— JAMA , The New England Journal of Medicine ( NEJM ), and BMJ —from January to July of 2019 and 2020. All articles other than journal mastheads were included in data collection. Article types included research articles, educational articles, opinion, reviews, letters, erratum, and scientific news.

Views data were acquired by inspecting the metrics information for each article provided by the journal websites with the Scrapy web scraping and website parsing package version 2.3.0 (Scrapy) for Python statistical software version 3.8.3 (Python Software Foundation) with the Spyder open-source interface version 4.1.4. We first determined whether articles were COVID-19 focused and original research (yes or no). COVID-19–focused articles were defined as those that referenced COVID-19 (or a synonymous term) in the title, or whose content was judged by the primary author (A.J.G.) to be primarily pandemic related. Unclear article categorization was decided in consensus by all 3 authors. Articles were categorized as original research if they were original research articles, including meta-analyses.

We compared the views of non–COVID-19 original research articles from March 2020 (when COVID-19 attention began to mount) to July 2020 with the same period in 2019. Because of journal variation in metric reporting methods, we standardized view accrual time by summing views through the end of the month following the date of issue. Differences in median views of the 457 relevant articles were assessed with the Wilcoxon rank-sum test using R statistical software version 4.0.2 with the RStudio version 1.3.1073 interface (both from R Project for Statistical Computing). We then performed subgroup analyses on the 3 journals with a Bonferroni correction for multiple comparisons, with significance set at 2-tailed P  = .017. Data analysis was performed from October to December 2020.

In total, the number of views for 7528 articles were collected: 4059 articles from BMJ , 2079 from JAMA , and 1390 from NEJM . In March to July of 2020, the median (interquartile range) number of views of COVID-19 original research articles was 117 341.5 (51 114-294 8595.5) views, and the median (interquartile range) number of views of non–COVID-19 original research articles was 10 171 (5848-20 406) views. In March to July 2019, there were 258 non–COVID-19 research articles published (68 in BMJ , 97 in JAMA , and 93 in NEJM ), compared with 199 non–COVID-19 original research articles published in March to July 2020 (49 in BMJ , 70 in JAMA , and 80 in NEJM ), a decrease of 23%. Overall readership of articles between March to July 2019 and March to July 2020 increased by 557%, whereas the total number of articles published per month remained constant ( Figure 1 ). Although the total number of non–COVID-19 original research articles decreased from 2019 to 2020 ( Figure 1 B and 1 D), the median number of views of each article was not substantially different between March to July of 2019 and March to July 2020 ( Figure 2 ).

The COVID-19 pandemic has increased overall article views for major medical journals in 2020, with unprecedented views per article for COVID-19–related publications. Although the total number of published original non–COVID-19 research articles decreased during the pandemic in these 3 journals, the number of views per article has remained constant, implying that individual non–COVID-19 original research articles are receiving similar attention as before the pandemic. The pandemic may detrimentally affect the broader evidence base because fewer non–COVID-19 research articles have been published in the 3 journals studied. This work begins to address the question of how the COVID-19 pandemic has affected attention to other diseases in the medical literature. These findings may be limited by different approaches to page view reporting and variable numbers of articles published between the studied journals.

Accepted for Publication: February 26, 2021.

Published: April 1, 2021. doi:10.1001/jamanetworkopen.2021.6459

Open Access: This is an open access article distributed under the terms of the CC-BY License . © 2021 Giustini AJ et al. JAMA Network Open .

Corresponding Author: Andrew J. Giustini, MD, PhD, Department of Anesthesiology, Stanford University School of Medicine, 300 Pasteur Dr, Rm H3580, MC 5640, Stanford, CA 94305 ( [email protected] ).

Author Contributions: Dr Giustini had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.

Concept and design: All authors.

Acquisition, analysis, or interpretation of data: Giustini, Axelrod.

Drafting of the manuscript: Giustini, Axelrod.

Critical revision of the manuscript for important intellectual content: All authors.

Statistical analysis: Giustini.

Administrative, technical, or material support: Axelrod.

Supervision: Axelrod.

Conflict of Interest Disclosures: None reported.

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“Lord Knows What’s Being Done with My Blood!”: Black Women’s Perceptions of Biospecimen Donation for Clinical Research in the United States

• Published: 07 May 2024

Cite this article

• Kyrah K. Brown   ORCID: orcid.org/0000-0002-7028-6791 1 ,
• Shameka Poetry Thomas   ORCID: orcid.org/0000-0002-5225-0090 2 ,
• R. Mathew Brothers   ORCID: orcid.org/0000-0002-3281-5277 1 &
• Yue Liao   ORCID: orcid.org/0000-0002-9384-336X 1  

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Black women are underrepresented in clinical research and clinical trials. Knowledge gaps lead to biased clinical practice and care. There is a small but growing body of literature on Black women’s perceptions about participation when biospecimen donation is sought by researchers. This is the first known study to investigate willingness to participate in clinical research involving biospecimen donation among Black women of reproductive age in the United States.

This cross-sectional study recruited 496 Black women (ages 18–49) from a research crowdsourcing platform. Participants completed a 46-item online survey which asked about their willingness to provide blood samples for clinical health research and reasons for their willingness or for any unwillingness. Descriptive statistics and thematic analysis method were used to analyze the data.

Less than half (44%) of participants reported willingness to provide blood samples for clinical research. The most common concerns of those expressing unwillingness to provide samples were “fear of blood sample being misused” and “distrust with the health researchers handling the samples.” We identified six qualitative themes from the analysis of participants’ open-ended responses. The most important factors include a desire for integrity and transparency in research, institutional racism contributing to mistrust, and adequate compensation and clearly defined benefits to participation.

Conclusions

The recruitment and engagement of Black women in clinical biospecimen research should involve transparent, trustworthy, and anti-racist practices and informed respect for Black women’s autonomy. There is a need to address Black women’s concerns about exploitative profits and mistrust of academic and medical institutions.

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Differences in preferences for models of consent for biobanks between Black and White women

Promoting inclusive recruitment: a qualitative study of black adults’ decision to participate in genetic research, biobanking in israel 2016–17; expressed perceptions versus real life enrollment, data availability.

The data presented in this study are available on reasonable request from the corresponding author.

Powell-Wiley TM, Baumer Y, Baah FO, Baez AS, Farmer N, Mahlobo CT, et al. Social determinants of cardiovascular disease. Circul Res. 2022;130:782–99.

Article   CAS   Google Scholar  

Forrester S, Jacobs D, Zmora R, Schreiner P, Roger V, Kiefe CI. Racial differences in weathering and its associations with psychosocial stress: the CARDIA study. SSM - Popul Health. 2019;7:100319.

Article   Google Scholar  

Geronimus AT, Hicken M, Keene D, Bound J. Weathering and age patterns of allostatic load scores among Blacks and Whites in the United States. Am J Public Health. 2006;96:826–33.

Article   PubMed   PubMed Central   Google Scholar  

Akins JD, Martin ZT, Patik JC, Curtis BM, Campbell JC, Olvera G, et al. Young, non-hispanic black men and women exhibit divergent peripheral and cerebral vascular reactivity. Exp Physiol. 2022;107:450–61.

Article   PubMed   Google Scholar  

Allen AM, Wang Y, Chae DH, Price MM, Powell W, Steed TC, et al.  Racial discrimination, the superwoman schema, and allostatic load: exploring an integrative stress-coping model among African American women.  Ann N Y Acad  Sci. 2019;1457:104–27.

Martin ZT, Al-daas IO, Cardenas N, Vu J, Brown KK, Brothers R. Conduit artery and forearm microvascular reactivity in Black and White females: examining the role of Greater Superwoman Schema endorsement. FASEB J. https://faseb.onlinelibrary.wiley.com/doi/abs/10.1096/fasebj.2022.36.S1.R4850 .

National Cancer Institute, Division of Cancer Treatment and Diagnosis. Frequently asked questions (FAQs) [Internet]. [cited 2023 Oct 8]. https://biospecimens.cancer.gov/patientcorner/faq.asp#q2 .

Bowen DJ, Penchaszadeh VB. Special issue: enhancing minority recruitment into genetics research. Community Genet. 2008;11:189–190.

Branson RD, Davis K, Butler KL. African Americans’ participation in clinical research: importance, barriers, and solutions. Am J Surg. 2007;193:32–9. discussion 40.

Compadre AJ, Simonson ME, Gray K, Runnells G, Kadlubar S, Zorn KK. Challenges in recruiting African-American women for a breast cancer genetics study. Hered Cancer Clin Pract. 2018;16:8.

Gorelick PB, Harris Y, Burnett B, Bonecutter FJ. The recruitment triangle: reasons why African Americans enroll, refuse to enroll, or voluntarily withdraw from a clinical trial. An interim report from the African-American Antiplatelet Stroke Prevention Study (AAASPS). J Natl Med Assoc. 1998;90:141–5.

CAS   PubMed   PubMed Central   Google Scholar  

Hughes C, Peterson SK, Ramirez A, Gallion KJ, McDonald PG, Skinner CS, et al. Minority recruitment in hereditary breast cancer research. Cancer Epidemiol Biomarkers Prev. 2004;13:1146–55.

Spruill IJ. Enhancing recruitment of African-American families into genetic research: lessons learned from Project SuGar. J Community Genet. 2010;1:125–32.

Wujcik D, Wolff SN. Recruitment of African Americans to National Oncology Clinical Trials through a clinical trial shared resource. J Health Care Poor Underserved. 2010;21:38–50.

Ambrosone CB, Zirpoli G, Ruszczyk M, Shankar J, Hong C-C, McIlwain D, et al. Parity and breastfeeding among African-American women: differential effects on breast cancer risk by estrogen receptor status in the women’s Circle of Health Study. Cancer Causes Control. 2014;25:259–65.

Bekash A, Saini J, Fan X, Hooke J, Mural R, Shriver C, et al. Differential benign breast disease co-occurrence with cancer in Caucasian and African American women. Cancer Res. 2009;69:3066.

Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, et al. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction. Nat Genet. 2021;53:65–75.

Article   CAS   PubMed   PubMed Central   Google Scholar  

Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, et al. Genetic misdiagnoses and the potential for health disparities. N Engl J Med. 2016;375:655–65.

Rebbeck TR, Bridges JFP, Mack JW, Gray SW, Trent JM, George S, et al. A framework for promoting diversity, equity, and inclusion in genetics and genomics research. JAMA Health Forum. 2022;3:e220603.

Adams-Campbell LL, Dash C, Palmer JR, Wiedemeier MV, Russell CW, Rosenberg L, et al. Predictors of biospecimen donation in the Black women’s Health Study. Cancer Causes Control. 2016;27:797–803.

Barber LE, Palmer JR, Bertrand KA, Wang C. Abstract C040: predictors of blood biospecimen provision among African American women. Cancer Epidemiol Biomarkers Prev. 2020;29:C040–040.

Radecki Breitkopf C, Williams KP, Ridgeway JL, Parker MW, Strong-Simmons A, Hayes SN, et al. Linking education to action: a program to increase research participation among African American Women. J Women’s Health. 2018;27:1242–1249.

Ridley-Merriweather KE, Head KJ. African American women’s perspectives on donating healthy breast tissue for research: implications for recruitment. Health Commun. 2017;32:1571–1580.

Smith YR, Johnson AM, Newman LA, Greene A, Johnson TRB, Rogers JL. Perceptions of clinical research participation among African American women. J Womens Health (Larchmt). 2007;16:423–8.

Sheppard VB, Hurtado-de-Mendoza A, Zheng Y-L, Wang Y, Graves KD, Lobo T, et al. Biospecimen donation among Black and White breast cancer survivors: opportunities to promote precision medicine. J Cancer Surviv. 2018;12:74–81.

Yen GP, Davey A, Ma GX. Factors that affect willingness to donate blood for the purpose of biospecimen research in the Korean American community. Biopreserv Biobank. 2015;13:107–13.

Scherr CL, Ramesh S, Marshall-Fricker C, Perera MA. A review of African Americans’ beliefs and attitudes about genomic studies: opportunities for message design. Front Genet. 2019 [cited 2021 May 30];10. https://www.frontiersin.org/articles/ https://doi.org/10.3389/fgene.2019.00548/full .

Liao Y, Brown KK. Usage of digital health tools and perception of mHealth intervention for physical activity and sleep in Black women. Int J Environ Res Public Health. 2022;19:1557.

Centers for Disease Control and Prevention. About chronic health diseases [Internet]. [Cited 9 September 2023]. National Center for Chronic Disease Prevention and Health Promotion. 2022. https://www.cdc.gov/chronicdisease/about/index.htm .

Braun V, Clarke V. Thematic analysis. In: Cooper H, Camic PM, Long DL, Panter AT, Rindskopf D, Sher KJ, editors. APA handbook of research methods in psychology, vol 2: research designs: quantitative, qualitative, neuropsychological, and biological. Washington, DC, US: American Psychological Association; 2012. p. 57–71.

Chapter   Google Scholar  

Royal C, Baffoe-Bonnie A, Kittles R, Powell I, Bennett J, Hoke G, et al. Recruitment experience in the first phase of the African American Hereditary Prostate Cancer (AAHPC) study. Ann Epidemiol. 2000;10:S68–77.

Article   CAS   PubMed   Google Scholar  

Shavers VL, Lynch CF, Burmeister LF. Racial differences in factors that influence the willingness to participate in medical research studies. Ann Epidemiol. 2002;12:248–56.

Shavers-Hornaday VL, Lynch CF, Burmeister LF, Torner JC. Why are African Americans under-represented in medical research studies? Impediments to participation. Ethn Health. 1997;2:31–45.

Tong EK, Fung L-C, Stewart SL, Paterniti DA, Dang JHT, Chen MS Jr. Impact of a biospecimen collection seminar on willingness to donate biospecimens among Chinese Americans: results from a randomized, controlled community-based trial. Cancer Epidemiol Biomarkers Prev. 2014;23:392–401.

Raines-Milenkov A, Felini M, Baker E, Acharya R, Diese EL, Onsa S et al. Willingness of a multiethnic immigrant population to donate biospecimens for research purposes. J Immigrant Minority Health [Internet]. 2021 [cited 2022 Jan 23]; https://doi.org/10.1007/s10903-021-01241-4 .

Scott EA, Schlumpf KS, Mathew SM, Mast AE, Busch MP, Gottschall JL, et al. Biospecimen repositories: are blood donors willing to participate? Transfusion. 2010;50:1943–1950.

Dash C, Wallington SF, Muthra S, Dodson E, Mandelblatt J, Adams-Campbell LL. Disparities in knowledge and willingness to donate research biospecimens: a mixed-methods study in an underserved urban community. J Community Genet. 2014;5:329–336.

Hagiwara N, Berry-Bobovski L, Francis C, Ramsey L, Chapman RA, Albrecht TL. Unexpected findings in the exploration of African American underrepresentation in biospecimen collection and biobanks. J Canc Educ. 2014;29:580–7.

Hinton EC. Black American millennials coping with the myth of a post-racist society. Dissertation [Internet]. Minnesota, United States: Walden University; 2020 [cited 2024 Apr 3]. https://www.proquest.com/docview/2386924967/abstract/F3D47F93F35B442CPQ/1 .

Jones-Eversley S, Adedoyin AC, Robinson MA, Moore SE. Protesting Black inequality: a commentary on the Civil Rights Movement and Black Lives Matter. J Community Pract. 2017;25:309–24.

Luckerson V. Why millenials can’t afford to be colorblind. Time [Internet]. 2015 Jul 6 [cited 2024 Apr 3]; https://time.com/3944697/millennials-race-confederate-flag/ .

Merdad L, Aldakhil L, Gadi R, Assidi M, Saddick SY, Abuzenadah A, et al. Assessment of knowledge about biobanking among healthcare students and their willingness to donate biospecimens. BMC Med Ethics. 2017;18:32.

Henderson C, Scott T, Schinder B, Hager E, Friedman FS, Miller E, et al. Shifting the paradigm from participant mistrust to researcher and institutional trustworthiness: a qualitative study of researchers’ perspectives on building trustworthiness with Black communities. Community Health Equity Res Policy. 2022. https://doi.org/10.1177/0272684X221117710 .

Thomas SP. Trust also means centering Black women’s reproductive health narratives. Hastings Cent Rep. 2022;52:S18–21.

Wilson Y. Is trust enough? Anti-Black racism and the perception of Black vaccine “hesitancy.” Hastings Cent Rep. 2022;52(Suppl 1):S12–7.

PubMed   Google Scholar  

Dang JHT, Rodriguez EM, Luque JS, Erwin DO, Meade CD, Chen MS. Engaging diverse populations about biospecimen donation for cancer research. J Community Genet. 2014;5:313–327.

Griffith DM, Jaeger EC, Bergner EM, Stallings S, Wilkins CH. Determinants of trustworthiness to conduct medical research: findings from focus groups conducted with racially and ethnically diverse adults. J Gen Intern Med. 2020;35:2969–75.

Association of American Medical Colleges. The principles of trustworthiness [Internet]. Center For Health Justice. 2022 [cited 2022 Jun 22]. https://www.aamchealthjustice.org/resources/trustworthiness-toolkit .

Thomas SP, Amini K, Floyd KJ, Willard R, Wossenseged F, Keller M, et al. Cultivating diversity as an ethos with an anti-racism approach in the scientific enterprise. HGG Adv. 2021;2:100052.

PubMed   PubMed Central   Google Scholar  

Ford CL, Airhihenbuwa CO. The public health critical race methodology: praxis for antiracism research. Soc Sci Med. 2010;71:1390–8.

Goings TC, Belgrave FZ, Mosavel M, Evans CBR. An antiracist research framework: principles, challenges, and recommendations for dismantling racism through research. J Soc Social Work Res. 2023;14:101–28.

Ross LJ. Reproductive justice as intersectional feminist activism. Souls. 2017;19:286–314.

ten Have H. Patrão Neves M do C. Respect for autonomy. In: ten Have H, Patrão Neves M do C, editors. Dictionary of global bioethics [Internet]. Cham: Springer International Publishing; 2021 [cited 2023 Aug 2]. pp. 913–913. https://doi.org/10.1007/978-3-030-54161-3_450 .

Davis D-A. Obstetric racism: the racial politics of pregnancy, Labor, and Birthing. Med Anthropol. 2019;38:560–73.

Roberts D. Killing the Black body: race, reproduction, and the meaning of liberty. Knopf Doubleday Publishing Group; 2014.

Google Scholar  

Wilson WD, Jackson FH, Harrell JR. Framework for ethical community engagement (ECE) with underserved populations in the rural south: a help for bioethics and healthcare promotion. J Health Care Poor Underserved. 2019;30:91–104.

Erwin DO, Moysich K, Kiviniemi MT, Saad-Harfouche FG, Davis W, Clark-Hargrave N, et al. Community-based partnership to identify keys to biospecimen research participation. J Canc Educ. 2013;28:43–51.

Veseli B, Sandner S, Studte S, Clement M. The impact of COVID-19 on blood donations. PLoS ONE. 2022;17:e0265171.

Behar-Horenstein L, Warren R, Setiawan VW, Perkins C, Schmittgen TD. Enhancing African American participation in biospecimens: a case in point for pancreatic cancer. CHD [Internet]. 2020 [cited 2021 May 30]; Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8294622/ .

Beskow LM. Lessons from HeLa cells: the ethics and policy of biospecimens. Annu Rev Genom Hum Genet. 2016;17:395–417.

Beskow LM, Friedman JY, Hardy NC, Lin L, Weinfurt KP. Developing a simplified consent form for biobanking. PLoS ONE. 2010;5:e13302.

Clark US, Hurd YL. Addressing racism and disparities in the biomedical sciences. Nat Hum Behav. 2020;4:774–7.

Flory J, Emanuel E. Interventions to improve research participants’ understanding in informed consent for research: a systematic review. JAMA. 2004;292:1593–601.

Kim EJ, Kim SH. Simplification improves understanding of informed consent information in clinical trials regardless of health literacy level. Clin Trails. 2015;12:232–6.

Page SA, Manhas KP, Muruve DA. A survey of patient perspectives on the research use of health information and biospecimens. BMC Med Ethics. 2016;17:48.

Spector-Bagdady K. Hospitals should act now to notify patients about research use of their data and biospecimens. Nat Med. 2020;26:306–308.

Rodriguez EM, Saad-Harfouche FG, Miller A, Mahoney MC, Ambrosone CB, Morrison CD, et al. Engaging diverse populations in biospecimen donation: results from the Hoy Y Mañana study. J Community Genet. 2016;7:271–277.

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This research study was supported by startup funds awarded to Dr. Yue Liao from the University of Texas at Arlington.

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Conceptualization, K.K.B and Y.L.; methodology, Y.L. and K.K.B.; formal analysis, K.K.B and Y.L.; writing—original draft preparation, K.K.B.; writing—review and editing, Y.L., S.P.T., R.M.B; funding acquisition, Y.L. All authors have read and agreed to the published version of the manuscript.

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Brown, K.K., Thomas, S.P., Brothers, R.M. et al. “Lord Knows What’s Being Done with My Blood!”: Black Women’s Perceptions of Biospecimen Donation for Clinical Research in the United States. J. Racial and Ethnic Health Disparities (2024). https://doi.org/10.1007/s40615-024-02015-y

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DOI : https://doi.org/10.1007/s40615-024-02015-y

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Study Suggests Genetics as a Cause, Not Just a Risk, for Some Alzheimer’s

People with two copies of the gene variant APOE4 are almost certain to get Alzheimer’s, say researchers, who proposed a framework under which such patients could be diagnosed years before symptoms.

By Pam Belluck

Scientists are proposing a new way of understanding the genetics of Alzheimer’s that would mean that up to a fifth of patients would be considered to have a genetically caused form of the disease.

Currently, the vast majority of Alzheimer’s cases do not have a clearly identified cause. The new designation, proposed in a study published Monday, could broaden the scope of efforts to develop treatments, including gene therapy, and affect the design of clinical trials.

It could also mean that hundreds of thousands of people in the United States alone could, if they chose, receive a diagnosis of Alzheimer’s before developing any symptoms of cognitive decline, although there currently are no treatments for people at that stage.

The new classification would make this type of Alzheimer’s one of the most common genetic disorders in the world, medical experts said.

“This reconceptualization that we’re proposing affects not a small minority of people,” said Dr. Juan Fortea, an author of the study and the director of the Sant Pau Memory Unit in Barcelona, Spain. “Sometimes we say that we don’t know the cause of Alzheimer’s disease,” but, he said, this would mean that about 15 to 20 percent of cases “can be tracked back to a cause, and the cause is in the genes.”

The idea involves a gene variant called APOE4. Scientists have long known that inheriting one copy of the variant increases the risk of developing Alzheimer’s, and that people with two copies, inherited from each parent, have vastly increased risk.

The new study , published in the journal Nature Medicine, analyzed data from over 500 people with two copies of APOE4, a significantly larger pool than in previous studies. The researchers found that almost all of those patients developed the biological pathology of Alzheimer’s, and the authors say that two copies of APOE4 should now be considered a cause of Alzheimer’s — not simply a risk factor.

The patients also developed Alzheimer’s pathology relatively young, the study found. By age 55, over 95 percent had biological markers associated with the disease. By 65, almost all had abnormal levels of a protein called amyloid that forms plaques in the brain, a hallmark of Alzheimer’s. And many started developing symptoms of cognitive decline at age 65, younger than most people without the APOE4 variant.

“The critical thing is that these individuals are often symptomatic 10 years earlier than other forms of Alzheimer’s disease,” said Dr. Reisa Sperling, a neurologist at Mass General Brigham in Boston and an author of the study.

She added, “By the time they are picked up and clinically diagnosed, because they’re often younger, they have more pathology.”

People with two copies, known as APOE4 homozygotes, make up 2 to 3 percent of the general population, but are an estimated 15 to 20 percent of people with Alzheimer’s dementia, experts said. People with one copy make up about 15 to 25 percent of the general population, and about 50 percent of Alzheimer’s dementia patients.

The most common variant is called APOE3, which seems to have a neutral effect on Alzheimer’s risk. About 75 percent of the general population has one copy of APOE3, and more than half of the general population has two copies.

Alzheimer’s experts not involved in the study said classifying the two-copy condition as genetically determined Alzheimer’s could have significant implications, including encouraging drug development beyond the field’s recent major focus on treatments that target and reduce amyloid.

Dr. Samuel Gandy, an Alzheimer’s researcher at Mount Sinai in New York, who was not involved in the study, said that patients with two copies of APOE4 faced much higher safety risks from anti-amyloid drugs.

When the Food and Drug Administration approved the anti-amyloid drug Leqembi last year, it required a black-box warning on the label saying that the medication can cause “serious and life-threatening events” such as swelling and bleeding in the brain, especially for people with two copies of APOE4. Some treatment centers decided not to offer Leqembi, an intravenous infusion, to such patients.

Dr. Gandy and other experts said that classifying these patients as having a distinct genetic form of Alzheimer’s would galvanize interest in developing drugs that are safe and effective for them and add urgency to current efforts to prevent cognitive decline in people who do not yet have symptoms.

“Rather than say we have nothing for you, let’s look for a trial,” Dr. Gandy said, adding that such patients should be included in trials at younger ages, given how early their pathology starts.

Besides trying to develop drugs, some researchers are exploring gene editing to transform APOE4 into a variant called APOE2, which appears to protect against Alzheimer’s. Another gene-therapy approach being studied involves injecting APOE2 into patients’ brains.

The new study had some limitations, including a lack of diversity that might make the findings less generalizable. Most patients in the study had European ancestry. While two copies of APOE4 also greatly increase Alzheimer’s risk in other ethnicities, the risk levels differ, said Dr. Michael Greicius, a neurologist at Stanford University School of Medicine who was not involved in the research.

“One important argument against their interpretation is that the risk of Alzheimer’s disease in APOE4 homozygotes varies substantially across different genetic ancestries,” said Dr. Greicius, who cowrote a study that found that white people with two copies of APOE4 had 13 times the risk of white people with two copies of APOE3, while Black people with two copies of APOE4 had 6.5 times the risk of Black people with two copies of APOE3.

“This has critical implications when counseling patients about their ancestry-informed genetic risk for Alzheimer’s disease,” he said, “and it also speaks to some yet-to-be-discovered genetics and biology that presumably drive this massive difference in risk.”

Under the current genetic understanding of Alzheimer’s, less than 2 percent of cases are considered genetically caused. Some of those patients inherited a mutation in one of three genes and can develop symptoms as early as their 30s or 40s. Others are people with Down syndrome, who have three copies of a chromosome containing a protein that often leads to what is called Down syndrome-associated Alzheimer’s disease .

Dr. Sperling said the genetic alterations in those cases are believed to fuel buildup of amyloid, while APOE4 is believed to interfere with clearing amyloid buildup.

Under the researchers’ proposal, having one copy of APOE4 would continue to be considered a risk factor, not enough to cause Alzheimer’s, Dr. Fortea said. It is unusual for diseases to follow that genetic pattern, called “semidominance,” with two copies of a variant causing the disease, but one copy only increasing risk, experts said.

The new recommendation will prompt questions about whether people should get tested to determine if they have the APOE4 variant.

Dr. Greicius said that until there were treatments for people with two copies of APOE4 or trials of therapies to prevent them from developing dementia, “My recommendation is if you don’t have symptoms, you should definitely not figure out your APOE status.”

He added, “It will only cause grief at this point.”

Finding ways to help these patients cannot come soon enough, Dr. Sperling said, adding, “These individuals are desperate, they’ve seen it in both of their parents often and really need therapies.”

Pam Belluck is a health and science reporter, covering a range of subjects, including reproductive health, long Covid, brain science, neurological disorders, mental health and genetics. More about Pam Belluck

The Fight Against Alzheimer’s Disease

Alzheimer’s is the most common form of dementia, but much remains unknown about this daunting disease..

How is Alzheimer’s diagnosed? What causes Alzheimer’s? We answered some common questions .

A study suggests that genetics can be a cause of Alzheimer’s , not just a risk, raising the prospect of diagnosis years before symptoms appear.

Determining whether someone has Alzheimer’s usually requires an extended diagnostic process . But new criteria could lead to a diagnosis on the basis of a simple blood test .

The F.D.A. has given full approval to the Alzheimer’s drug Leqembi. Here is what to know about i t.

Alzheimer’s can make communicating difficult. We asked experts for tips on how to talk to someone with the disease .

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Article Contents

Introduction, acknowledgements, conflict of interest, morphogenesis-coupled dna repair - in mammalian embryogenesis, morphogenesis and dna double strand break (dsb) repair are carried out simultaneously to ensure normal development.

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Asao Noda, Morphogenesis-coupled DNA repair - in mammalian embryogenesis, morphogenesis and DNA double strand break (DSB) repair are carried out simultaneously to ensure normal development, Journal of Radiation Research , 2024;, rrae028, https://doi.org/10.1093/jrr/rrae028

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Embryonic development in higher organisms is an irreversible process controlled by a strict and predetermined genetic program. In their early embryo, dramatic changes called ‘embryo morphogenesis,’ which involve cell division and migration of cell populations, as well as three-dimensional tissue organization, occur precisely within a fixed time slot. This elaborate mechanism has fascinated developmental biologists for many years. However, excessive stress from the external environment can disrupt this process. For example, certain toxic chemicals and radiation can inhibit development or cause abnormal morphogenesis. During evolution, organisms have developed molecular mechanisms to deal with problems in all phases of cell metabolism. Thus, mechanisms must be present to deal with genomic damage during embryonic development, while maintaining a predetermined timetable. To date, damaged cells occurring during embryonic development were only considered to be eliminated by p53-dependent apoptosis to prevent the development of malformations. In this short review, I summarize recent findings on the mechanisms of double-strand break (DSB) repair (or DSB stress response) coupled with morphogenesis using regulatory proteins like chromodomain helicase DNA binding protein 7 (CHD7), Pax2 transactivation domain interacting protein (PTIP), co-factor of BRCA1 (COBRA1) and BRCT-repeat inhibitor of TERT expression (BRIT1) as examples.

Example 1: Chromodomain helicase DNA binding protein 7(CHD7)

Excessive radiation exposure can cause unrepaired DSBs in cell nuclei. These can be easily detected and quantified in apoptosis-resistant mesenchymal and stromal cells, such as fibroblasts [ 1 ]. In the process of screening for genes characteristic in cells bearing unrepaired DSBs, we discovered that CHD7 transcription was upregulated in these cells [ 2 ]. We also confirmed ATM-dependent phosphorylation of CHD7 protein and its accumulation in DSB foci protein complexes after radiation exposure. CHD7 is a transcription factor ubiquitously expressed in adult tissues; it is also known to control neural crest differentiation and morphogenesis during early development [ 3 ]. Neural crest cells are a migratory cell population transiently located in the border region between the neural plate and epidermis during early embryogenesis. They form neural, skeletal, epithelial and mesenchymal tissues and participate in several organogenesis processes, such as the development of craniofacial architecture, brain, and heart. The neural crest is thus called the ‘fourth germinal lobe’ [ 4 ]. CHD7 is expressed upstream of the transcription factors Slug, Twist, and Sox9 in the mesenchymal-epithelial transition of the neural crest and is essential for the formation of migratory neural crest cells [ 3 ]. It is also expressed upstream of semaphorin 3A (SEMA3A) and ephrin receptors and regulates the guidance of neuroaxonal elongation in 9.5- to 11.5-day mouse embryos [ 5 ]. CHD7 heterozygotes arising from de novo germline mutations show multiple developmental abnormalities in neurosensory organs, such as the eyes, mouth, nose, ears and brain, as well as heart malformations, indicating that gene haploinsufficiency induces fetal malformations. CHD7 is the major gene responsible for the Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital abnormality, and Ear abnormality (CHARGE) congenital malformation syndrome in humans [ 6 , 7 ]. SEMA3A mutations are found in Kallmann syndrome, which resembles CHARGE [ 5 ]. Further, CHD7 is essential for neural crest induction from undifferentiated tissues. The fact that CHD7 localizes to the DSB site [ 8 ] and is phosphorylated in an ATM-dependent manner by switching its localization from promoter/enhancer binding to DSB binding [ 2 ] indicates that this transcription factor has both morphogenetic and DSB repair functions in the developing neural crest. The embryonic morphogenetic stage is highly sensitive to radiation, and excessive radiation induces malformations [ 9 ]. In mouse fetuses, induction of malformations peaks in 7- to 13-day embryos irradiated at 2 Gy. Although CHD7 is the most active during this period and drives morphogenesis, it may also drive concurrent repair in response to genomic stress. This coupling, or switching, between morphogenesis and DSB repair is attributed to ATM-dependent phosphorylation and the transient translocation of proteins to DSB sites. In case of excessive DNA damage or many cells bearing unrepairable damage, CHD7 remains at the DSB site for too long, thereby resulting in a reduction of its morphogenetic activity. Otherwise, cells with unrepaired DSBs could progress to mitotic arrest, preventing development. This is a plausible cause of radiation-induced fetal malformations and a good example of a morphogenetic transcription factor with DSB repair (response) function ( Fig. 1 ).

Decision of embryo with DSB damage.

Protein factors involved in morphogenesis-coupled DSB repair

NR: nuclear receptor; CHARGE: coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities

Example 2: Pax2 transactivation domain interacting protein (PTIP)

Paired Box Gene 2 ( Pax2 ) is a transcription factor that controls intermediate mesodermal differentiation. Pax2 KO mice are born without kidneys. They also lack the ureter, reproductive tract, oviduct, uterus, and vagina [ 10 , 11 ]. Moreover, Pax2 controls eye and inner ear formation—in KO neonates, the eye cup cannot be closed, the optic nerve cannot be semi-crossed and becomes fully crossed, and inner ear hearing is defective. Therefore, Pax2 is a causative gene for congenital malformations [ 12 , 13 ]. PTIP was discovered as a Pax2-binding protein and was thought to bind the transactivation domain of Pax2 to promote transcription [ 14 ]. During the initial stage of kidney primordium formation from the intermediate mesoderm, Pax2 remains activated in the absence of PTIP. However, in the late stages of kidney formation, Pax2-activated gene expression is suppressed in the absence of PTIP. PTIP KO causes embryonic lethality in 9.5-day embryos [ 15 ] and arrhythmia and glomerular disease in conditional KO adults [ 16 , 17 ]. PTIP is an adaptor protein carrying six BRCA1 C-terminal (BRCT) domains and is a protein that is typically associated with DSB foci [ 14 , 18 ]. During DSB repair, PTIP binds to 53BP1 on DSBs, transiently suppresses end-resection, and promotes nonhomologous end-joining [ 19 ]. This complex of PTIP and Pax2 is required in kidney development [ 20 ].

Example 3: Cofactor of BRCA1 (COBRA1)

COBRA1 is a BRCA1-binding protein [ 21 ] that promotes mammary gland development in a hormone-dependent manner [ 22 ]. Deletion of COBRA1 suppresses mammary gland development. However, when BRCA1 is also depleted (double KO), mammary gland development resumes (double negative shows somewhat positive), suggesting that the BRCA1/COBRA1 complex normally suppresses mammary gland development at the transcriptional level, timing its hormone-dependent activation [ 23 ]. As neither the RING nor BRCT domains are involved in the BRCA1-induced repression of COBRA1 function, the homologous recombination repair (HRR) function of BRCA1 and mammary gland development do not seem to be directly related. However, breast cancer may occur if the suppressive function of the BRCA1/COBRA1 complex is attenuated and abnormal mammary cell proliferation (hyperplasia) occurs owing to over-mobilization of BRCA1 to DSBs for HRR. In other words, this is another good example of morphogenesis coupled with DSB repair, considering that it normally regulates mammary gland development, while DSB repair occurs simultaneously in the event of damage.

Example 4: BRCT-repeat inhibitor of TERT expression/Microcephalin (BRIT1/MCPH1)

The transcription factor BRIT1 was initially identified as a negative regulator of hTERT gene expression during somatic cell differentiation [ 24 ]. BRIT1 controls the transcription of target genes by binding to TRF2 and E2F. BRIT1 was also found to be a typical DSB foci factor shortly after its discovery because BRIT1 encodes three BRCT domain repeats. Surprisingly, this gene is identical to MCPH1 , the causative gene for microcephaly [ 25 ], indicating that it binds to telomere ends and radiation-induced DSBs, as well as regulates brain development [ 26 ]. BRIT1/MCPH1 regulates brain development by controlling the division of neuroprogenitor cells and temporal–spatial processes via mitotic checkpoint regulation. Thus, this key transcription factor regulating brain development and cell division also acts as a DSB stress response factor during radiation exposure.

The above examples indicate that some of the key transcription factors controlling embryo development and differentiation are also involved in the DSB stress response or directly in DSB repair. They ensure normal development by simultaneously performing morphogenesis and DSB repair in the irreversible process of morphogenesis. Under excessive genome damage, the DSB response may reduce the driving force of morphogenesis owing to the mobilization of more proteins to the DSB sites, resulting in the induction of fetal malformations. The morphogenetic period of early development is a continuous biological process with a point of no return, in which the most complex life phenomena must occur precisely within a predetermined timeframe. To ensure this process, it is reasonable to assume that the key transcription factors have themselves acquired a DSB repair (DSB stress response) function during evolution. From this perspective, the p53 family of genes might broadly fall into the same category as p53, which is a stress-responsive transcription factor and malformation suppressor [ 27 , 28 ]. However, p53 is a negative regulator that removes damaged cells during embryogenesis, whereas the morphogenic factors described above are positive regulators that promote the recovery of damaged cells. Furthermore, it has been suggested that some of these regulatory factors may also play a role in carcinogenesis [ 13 , 29 ], as cancer could potentially result from a disruption in morphogenetic activity.

During evolution, organisms have successfully dealt with genomic damage during the most critical phases of life to maintain their continuity. This has led to the creation of proofreading mechanisms in DNA replication and the development of a transcription-coupled repair mechanism. Similarly, a mechanism must have been established for simultaneous morphogenesis and repair of genomic damage occurring in cells during early embryogenesis because of exposure to radiation or other stresses. Additional morphogenic factors with such DSB-stress response functions are expected to be identified in future.

The Radiation Effects Research Foundation (RERF), Hiroshima and Nagasaki, Japan is a public interest foundation funded by the Japanese Ministry of Health, Labour and Welfare and the US Department of Energy with the purpose of conducting research and studies for peaceful purposes on medical effects of radiation and associated diseases in humans, to contribute to the health and welfare of atomic bomb survivors and all humankind. The views of the authors do not necessarily reflect those of the funding agencies. This study is based on RERF research protocol A4-09 and the result of collaboration among laboratory staff.

The author declares that there is no conflict of interest.

Noda A , Hirai Y , Hamasaki K . et al.    Unrepairable DNA double-strand breaks that are generated by ionizing radiation determine the fate of normal human cells . J Cell Sci   2012 ; 125 : 5280 – 7 . https://doi.org/10.1242/jcs.101006 .

Google Scholar

Noda A , Muramoto K , Mishima S . ATM-dependent phosphorylation of CHD7 regulates morphogenesis-coupled DSB stress response in fetal radiation exposure . Mol Biol Cell   2023 ; 34 : ar39 . https://doi.org/10.1091/mbc.E22-10-0450 .

Bajpai R , Chen DA , Rada-Iglesias A . et al.    CHD7 cooperates with PBAF to control multipotent neural crest formation . Nature   2010 ; 463 : 958 – 62 . https://doi.org/10.1038/nature08733 .

Hall BK . The neural crest as a fourth germ layer and vertebrates as quadroblastic not triploblastic . Evol Dev   2000 ; 2 : 3 – 5 . https://doi.org/10.1046/j.1525-142x.2000.00032.x .

Schulz Y , Wehner P , Opitz L . et al.    CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance . Hum Genet   2014 ; 133 : 997 – 1009 . https://doi.org/10.1007/s00439-014-1444-2 .

Vissers LE , van   Ravenswaaij CM , Admiraal R . et al.    Mutations in a new member of the chromodomain gene family cause CHARGE syndrome . Nat Genet   2004 ; 36 : 955 – 7 . https://doi.org/10.1038/ng1407 .

Zentner GE , Layman WS , Martin DM , Scacheri PC . Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome . Am J Med Genet A   2010 ; 152A : 674 – 86 . https://doi.org/10.1002/ajmg.a.33323 .

Rother MB , Pellegrino S , Smith R . et al.    CHD7 and 53BP1 regulate distinct pathways for the re-ligation of DNA double-strand breaks . Nat Commun   2020 ; 11 : 5775 . https://doi.org/10.1038/s41467-020-19502-5 .

Streffer C , Shore R , Konermann G . et al.    Biological effects after prenatal irradiation (embryo and fetus). A report of the International Commission on Radiological Protection . Ann ICRP   2003 ; 33 : 5 – 206 .

Torres M , Gómez-Pardo E , Dressler GR , Gruss P . Pax-2 controls multiple steps of urogenital development . Development   1995 ; 121 : 4057 – 65 . https://doi.org/10.1242/dev.121.12.4057 .

Torres M , Gómez-Pardo E , Gruss P . Pax2 contributes to inner ear patterning and optic nerve trajectory . Development   1996 ; 122 : 3381 – 91 . https://doi.org/10.1242/dev.122.11.3381 .

Chi N , Epstein JA . Getting your Pax straight: Pax proteins in development and disease . Trends Genet   2002 ; 18 : 41 – 7 . https://doi.org/10.1016/S0168-9525(01)02594-X .

Robson EJ , He SJ , Eccles MR . A PANorama of PAX genes in cancer and development . Nat Rev Cancer   2006 ; 6 : 52 – 62 . https://doi.org/10.1038/nrc1778 .

Lechner MS , Levitan I , Dressler GR . PTIP, a novel BRCT domain-containing protein interacts with Pax2 and is associated with active chromatin . Nucleic Acids Res   2000 ; 28 : 2741 – 51 . https://doi.org/10.1093/nar/28.14.2741 .

Cho EA , Prindle MJ , Dressler GR . BRCT domain-containing protein PTIP is essential for progression through mitosis . Mol Cell Biol   2003 ; 23 : 1666 – 73 . https://doi.org/10.1128/MCB.23.5.1666-1673.2003 .

Stein AB , Jones TA , Herron TJ . et al.    Loss of H3K4 methylation destabilizes gene expression patterns and physiological functions in adult murine cardiomyocytes . J Clin Invest   2011 ; 121 : 2641 – 50 . https://doi.org/10.1172/JCI44641 .

Lefevre GM , Patel SR , Kim D . et al.    Altering a histone H3K4 methylation pathway in glomerular podocytes promotes a chronic disease phenotype . PLoS Genet   2010 ; 6 :e1001142. https://doi.org/10.1371/journal.pgen.1001142 .

Muñoz IM , Rouse J . Control of histone methylation and genome stability by PTIP . EMBO Rep   2009 ; 10 : 239 – 45 . https://doi.org/10.1038/embor.2009.21 .

Callen E , Zong D , Wu W . et al.    53BP1 enforces distinct pre- and post-resection blocks on homologous recombination . Mol Cell   2020 ; 77 : 26 – 38.e7 . https://doi.org/10.1016/j.molcel.2019.09.024 .

Ranghini EJ , Dressler GR . Evidence for intermediate mesoderm and kidney progenitor cell specification by Pax2 and PTIP dependent mechanisms . Dev Biol   2015 ; 399 : 296 – 305 . https://doi.org/10.1016/j.ydbio.2015.01.005 .

Nair SJ , Zhang X , Chiang HC . et al.    Genetic suppression reveals DNA repair-independent antagonism between BRCA1 and COBRA1 in mammary gland development . Nat Commun   2016 ; 7 : 10913 . https://doi.org/10.1038/ncomms10913 .

Sun J , Blair AL , Aiyar SE , Li R . Cofactor of BRCA1 modulates androgen-dependent transcription and alternative splicing . J Steroid Biochem Mol Biol   2007 ; 107 : 131 – 9 . https://doi.org/10.1016/j.jsbmb.2007.05.031 .

Chiang HC , Zhang X , Zhao X . et al.    Gene-specific genetic complementation between BRCA1 and Cobra1 during mouse mammary gland development . Sci Rep   2018 ; 8 : 2731 . https://doi.org/10.1038/s41598-018-21044-2 .

Lin SY , Rai R , Li K . et al.    BRIT1/MCPH1 is a DNA damage responsive protein that regulates the BRCA1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly . Proc Natl Acad Sci USA   2005 ; 102 : 15105 – 9 . https://doi.org/10.1073/pnas.0507722102 .

Jackson AP , Eastwood H , Bell SM . et al.    Identification of microcephalin, a protein implicated in determining the size of the human brain . Am J Hum Genet   2002 ; 71 : 136 – 42 . https://doi.org/10.1086/341283 .

Peng G , Yim EK , Dai H . et al.    BRIT1/MCPH1 links chromatin remodelling to DNA damage response . Nat Cell Biol   2009 ; 11 : 865 – 72 . https://doi.org/10.1038/ncb1895 .

Norimura T , Nomoto S , Katsuki M . et al.    p53-dependent apoptosis suppresses radiation-induced teratogenesis . Nat Med   1996 ; 2 : 577 – 80 . https://doi.org/10.1038/nm0596-577 .

Van Nostrand JL , Brady CA , JungF H . et al.    Inappropriate p53 activation during development induces features of CHARGE syndrome . Nature   2014 ; 514 : 228 – 32 . https://doi.org/10.1038/nature13585 .

Machando RAC , Schneider H , DeOcesano-Pereira C . et al.    CHD7 promotes glioblastoma cell motility and invasiveness through transcriptional modulation of an invasion signature . Sci Rep   2019 ; 9 : 3952 . https://doi.org/10.1038/s41598-019-39564-w .

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