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Home » How to Publish a Research Paper – Step by Step Guide

How to Publish a Research Paper – Step by Step Guide

Table of Contents

Publishing a research paper is an important step for researchers to disseminate their findings to a wider audience and contribute to the advancement of knowledge in their field. Whether you are a graduate student, a postdoctoral fellow, or an established researcher, publishing a paper requires careful planning, rigorous research, and clear writing. In this process, you will need to identify a research question , conduct a thorough literature review , design a methodology, analyze data, and draw conclusions. Additionally, you will need to consider the appropriate journals or conferences to submit your work to and adhere to their guidelines for formatting and submission. In this article, we will discuss some ways to publish your Research Paper.

How to Publish a Research Paper

To Publish a Research Paper follow the guide below:

Conduct original research : Conduct thorough research on a specific topic or problem. Collect data, analyze it, and draw conclusions based on your findings.
Write the paper : Write a detailed paper describing your research. It should include an abstract, introduction, literature review, methodology, results, discussion, and conclusion.
Choose a suitable journal or conference : Look for a journal or conference that specializes in your research area. You can check their submission guidelines to ensure your paper meets their requirements.
Prepare your submission: Follow the guidelines and prepare your submission, including the paper, abstract, cover letter, and any other required documents.
Submit the paper: Submit your paper online through the journal or conference website. Make sure you meet the submission deadline.
Peer-review process : Your paper will be reviewed by experts in the field who will provide feedback on the quality of your research, methodology, and conclusions.
Revisions : Based on the feedback you receive, revise your paper and resubmit it.
Acceptance : Once your paper is accepted, you will receive a notification from the journal or conference. You may need to make final revisions before the paper is published.
Publication : Your paper will be published online or in print. You can also promote your work through social media or other channels to increase its visibility.

How to Choose Journal for Research Paper Publication

Here are some steps to follow to help you select an appropriate journal:

Identify your research topic and audience : Your research topic and intended audience should guide your choice of journal. Identify the key journals in your field of research and read the scope and aim of the journal to determine if your paper is a good fit.
Analyze the journal’s impact and reputation : Check the impact factor and ranking of the journal, as well as its acceptance rate and citation frequency. A high-impact journal can give your paper more visibility and credibility.
Consider the journal’s publication policies : Look for the journal’s publication policies such as the word count limit, formatting requirements, open access options, and submission fees. Make sure that you can comply with the requirements and that the journal is in line with your publication goals.
Look at recent publications : Review recent issues of the journal to evaluate whether your paper would fit in with the journal’s current content and style.
Seek advice from colleagues and mentors: Ask for recommendations and suggestions from your colleagues and mentors in your field, especially those who have experience publishing in the same or similar journals.
Be prepared to make changes : Be prepared to revise your paper according to the requirements and guidelines of the chosen journal. It is also important to be open to feedback from the editor and reviewers.

List of Journals for Research Paper Publications

There are thousands of academic journals covering various fields of research. Here are some of the most popular ones, categorized by field:

General/Multidisciplinary

Nature: https://www.nature.com/
Science: https://www.sciencemag.org/
PLOS ONE: https://journals.plos.org/plosone/
Proceedings of the National Academy of Sciences (PNAS): https://www.pnas.org/
The Lancet: https://www.thelancet.com/
JAMA (Journal of the American Medical Association): https://jamanetwork.com/journals/jama

Social Sciences/Humanities

Journal of Personality and Social Psychology: https://www.apa.org/pubs/journals/psp
Journal of Consumer Research: https://www.journals.uchicago.edu/journals/jcr
Journal of Educational Psychology: https://www.apa.org/pubs/journals/edu
Journal of Applied Psychology: https://www.apa.org/pubs/journals/apl
Journal of Communication: https://academic.oup.com/joc
American Journal of Political Science: https://ajps.org/
Journal of International Business Studies: https://www.jibs.net/
Journal of Marketing Research: https://www.ama.org/journal-of-marketing-research/

Natural Sciences

Journal of Biological Chemistry: https://www.jbc.org/
Cell: https://www.cell.com/
Science Advances: https://advances.sciencemag.org/
Chemical Reviews: https://pubs.acs.org/journal/chreay
Angewandte Chemie: https://onlinelibrary.wiley.com/journal/15213765
Physical Review Letters: https://journals.aps.org/prl/
Journal of Geophysical Research: https://agupubs.onlinelibrary.wiley.com/journal/2156531X
Journal of High Energy Physics: https://link.springer.com/journal/13130

Engineering/Technology

IEEE Transactions on Neural Networks and Learning Systems: https://ieeexplore.ieee.org/xpl/RecentIssue.jsp?punumber=5962385
IEEE Transactions on Power Systems: https://ieeexplore.ieee.org/xpl/RecentIssue.jsp?punumber=59
IEEE Transactions on Medical Imaging: https://ieeexplore.ieee.org/xpl/RecentIssue.jsp?punumber=42
IEEE Transactions on Control Systems Technology: https://ieeexplore.ieee.org/xpl/RecentIssue.jsp?punumber=87
Journal of Engineering Mechanics: https://ascelibrary.org/journal/jenmdt
Journal of Materials Science: https://www.springer.com/journal/10853
Journal of Chemical Engineering of Japan: https://www.jstage.jst.go.jp/browse/jcej
Journal of Mechanical Design: https://asmedigitalcollection.asme.org/mechanicaldesign

Medical/Health Sciences

New England Journal of Medicine: https://www.nejm.org/
The BMJ (formerly British Medical Journal): https://www.bmj.com/
Journal of the American Medical Association (JAMA): https://jamanetwork.com/journals/jama
Annals of Internal Medicine: https://www.acpjournals.org/journal/aim
American Journal of Epidemiology: https://academic.oup.com/aje
Journal of Clinical Oncology: https://ascopubs.org/journal/jco
Journal of Infectious Diseases: https://academic.oup.com/jid

List of Conferences for Research Paper Publications

There are many conferences that accept research papers for publication. The specific conferences you should consider will depend on your field of research. Here are some suggestions for conferences in a few different fields:

Computer Science and Information Technology:

IEEE International Conference on Computer Communications (INFOCOM): https://www.ieee-infocom.org/
ACM SIGCOMM Conference on Data Communication: https://conferences.sigcomm.org/sigcomm/
IEEE Symposium on Security and Privacy (SP): https://www.ieee-security.org/TC/SP/
ACM Conference on Computer and Communications Security (CCS): https://www.sigsac.org/ccs/
ACM Conference on Human-Computer Interaction (CHI): https://chi2022.acm.org/

Engineering:

IEEE International Conference on Robotics and Automation (ICRA): https://www.ieee-icra.org/
International Conference on Mechanical and Aerospace Engineering (ICMAE): http://www.icmae.org/
International Conference on Civil and Environmental Engineering (ICCEE): http://www.iccee.org/
International Conference on Materials Science and Engineering (ICMSE): http://www.icmse.org/
International Conference on Energy and Power Engineering (ICEPE): http://www.icepe.org/

Natural Sciences:

American Chemical Society National Meeting & Exposition: https://www.acs.org/content/acs/en/meetings/national-meeting.html
American Physical Society March Meeting: https://www.aps.org/meetings/march/
International Conference on Environmental Science and Technology (ICEST): http://www.icest.org/
International Conference on Natural Science and Environment (ICNSE): http://www.icnse.org/
International Conference on Life Science and Biological Engineering (LSBE): http://www.lsbe.org/

Social Sciences:

Annual Meeting of the American Sociological Association (ASA): https://www.asanet.org/annual-meeting-2022
International Conference on Social Science and Humanities (ICSSH): http://www.icssh.org/
International Conference on Psychology and Behavioral Sciences (ICPBS): http://www.icpbs.org/
International Conference on Education and Social Science (ICESS): http://www.icess.org/
International Conference on Management and Information Science (ICMIS): http://www.icmis.org/

How to Publish a Research Paper in Journal

Publishing a research paper in a journal is a crucial step in disseminating scientific knowledge and contributing to the field. Here are the general steps to follow:

Choose a research topic : Select a topic of your interest and identify a research question or problem that you want to investigate. Conduct a literature review to identify the gaps in the existing knowledge that your research will address.
Conduct research : Develop a research plan and methodology to collect data and conduct experiments. Collect and analyze data to draw conclusions that address the research question.
Write a paper: Organize your findings into a well-structured paper with clear and concise language. Your paper should include an introduction, literature review, methodology, results, discussion, and conclusion. Use academic language and provide references for your sources.
Choose a journal: Choose a journal that is relevant to your research topic and audience. Consider factors such as impact factor, acceptance rate, and the reputation of the journal.
Follow journal guidelines : Review the submission guidelines and formatting requirements of the journal. Follow the guidelines carefully to ensure that your paper meets the journal’s requirements.
Submit your paper : Submit your paper to the journal through the online submission system or by email. Include a cover letter that briefly explains the significance of your research and why it is suitable for the journal.
Wait for reviews: Your paper will be reviewed by experts in the field. Be prepared to address their comments and make revisions to your paper.
Revise and resubmit: Make revisions to your paper based on the reviewers’ comments and resubmit it to the journal. If your paper is accepted, congratulations! If not, consider revising and submitting it to another journal.
Address reviewer comments : Reviewers may provide comments and suggestions for revisions to your paper. Address these comments carefully and thoughtfully to improve the quality of your paper.
Submit the final version: Once your revisions are complete, submit the final version of your paper to the journal. Be sure to follow any additional formatting guidelines and requirements provided by the journal.
Publication : If your paper is accepted, it will be published in the journal. Some journals provide online publication while others may publish a print version. Be sure to cite your published paper in future research and communicate your findings to the scientific community.

How to Publish a Research Paper for Students

Here are some steps you can follow to publish a research paper as an Under Graduate or a High School Student:

Select a topic: Choose a topic that is relevant and interesting to you, and that you have a good understanding of.
Conduct research : Gather information and data on your chosen topic through research, experiments, surveys, or other means.
Write the paper : Start with an outline, then write the introduction, methods, results, discussion, and conclusion sections of the paper. Be sure to follow any guidelines provided by your instructor or the journal you plan to submit to.
Edit and revise: Review your paper for errors in spelling, grammar, and punctuation. Ask a peer or mentor to review your paper and provide feedback for improvement.
Choose a journal : Look for journals that publish papers in your field of study and that are appropriate for your level of research. Some popular journals for students include PLOS ONE, Nature, and Science.
Submit the paper: Follow the submission guidelines for the journal you choose, which typically include a cover letter, abstract, and formatting requirements. Be prepared to wait several weeks to months for a response.
Address feedback : If your paper is accepted with revisions, address the feedback from the reviewers and resubmit your paper. If your paper is rejected, review the feedback and consider revising and resubmitting to a different journal.

How to Publish a Research Paper for Free

Publishing a research paper for free can be challenging, but it is possible. Here are some steps you can take to publish your research paper for free:

Choose a suitable open-access journal: Look for open-access journals that are relevant to your research area. Open-access journals allow readers to access your paper without charge, so your work will be more widely available.
Check the journal’s reputation : Before submitting your paper, ensure that the journal is reputable by checking its impact factor, publication history, and editorial board.
Follow the submission guidelines : Every journal has specific guidelines for submitting papers. Make sure to follow these guidelines carefully to increase the chances of acceptance.
Submit your paper : Once you have completed your research paper, submit it to the journal following their submission guidelines.
Wait for the review process: Your paper will undergo a peer-review process, where experts in your field will evaluate your work. Be patient during this process, as it can take several weeks or even months.
Revise your paper : If your paper is rejected, don’t be discouraged. Revise your paper based on the feedback you receive from the reviewers and submit it to another open-access journal.
Promote your research: Once your paper is published, promote it on social media and other online platforms. This will increase the visibility of your work and help it reach a wider audience.

Journals and Conferences for Free Research Paper publications

Here are the websites of the open-access journals and conferences mentioned:

Open-Access Journals:

PLOS ONE – https://journals.plos.org/plosone/
BMC Research Notes – https://bmcresnotes.biomedcentral.com/
Frontiers in… – https://www.frontiersin.org/
Journal of Open Research Software – https://openresearchsoftware.metajnl.com/
PeerJ – https://peerj.com/

Conferences:

IEEE Global Communications Conference (GLOBECOM) – https://globecom2022.ieee-globecom.org/
IEEE International Conference on Computer Communications (INFOCOM) – https://infocom2022.ieee-infocom.org/
IEEE International Conference on Data Mining (ICDM) – https://www.ieee-icdm.org/
ACM SIGCOMM Conference on Data Communication (SIGCOMM) – https://conferences.sigcomm.org/sigcomm/
ACM Conference on Computer and Communications Security (CCS) – https://www.sigsac.org/ccs/CCS2022/

Importance of Research Paper Publication

Research paper publication is important for several reasons, both for individual researchers and for the scientific community as a whole. Here are some reasons why:

Advancing scientific knowledge : Research papers provide a platform for researchers to present their findings and contribute to the body of knowledge in their field. These papers often contain novel ideas, experimental data, and analyses that can help to advance scientific understanding.
Building a research career : Publishing research papers is an essential component of building a successful research career. Researchers are often evaluated based on the number and quality of their publications, and having a strong publication record can increase one’s chances of securing funding, tenure, or a promotion.
Peer review and quality control: Publication in a peer-reviewed journal means that the research has been scrutinized by other experts in the field. This peer review process helps to ensure the quality and validity of the research findings.
Recognition and visibility : Publishing a research paper can bring recognition and visibility to the researchers and their work. It can lead to invitations to speak at conferences, collaborations with other researchers, and media coverage.
Impact on society : Research papers can have a significant impact on society by informing policy decisions, guiding clinical practice, and advancing technological innovation.

Advantages of Research Paper Publication

There are several advantages to publishing a research paper, including:

Recognition: Publishing a research paper allows researchers to gain recognition for their work, both within their field and in the academic community as a whole. This can lead to new collaborations, invitations to conferences, and other opportunities to share their research with a wider audience.
Career advancement : A strong publication record can be an important factor in career advancement, particularly in academia. Publishing research papers can help researchers secure funding, grants, and promotions.
Dissemination of knowledge : Research papers are an important way to share new findings and ideas with the broader scientific community. By publishing their research, scientists can contribute to the collective body of knowledge in their field and help advance scientific understanding.
Feedback and peer review : Publishing a research paper allows other experts in the field to provide feedback on the research, which can help improve the quality of the work and identify potential flaws or limitations. Peer review also helps ensure that research is accurate and reliable.
Citation and impact : Published research papers can be cited by other researchers, which can help increase the impact and visibility of the research. High citation rates can also help establish a researcher’s reputation and credibility within their field.

About the author

Muhammad Hassan

Researcher, Academic Writer, Web developer

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How to find the right journal for your research (using actual data)

Joanna Wilkinson

Want to help your research flourish? We share tips for using publisher-neutral data and statistics to find the right journal for your research paper.

The right journal helps your research flourish. It puts you in the best position to reach a relevant and engaged audience, and can extend the impact of your paper through a high-quality publishing process.

Unfortunately, finding the right journal is a particular pain point for inexperienced authors and those who publish on interdisciplinary topics. The sheer number of journals published today is one reason for this. More than 42,000 active scholarly peer-reviewed journals were published in 2018 alone, and there’s been accelerated growth of more than 5% in recent years.

The overwhelming growth in journals has left many researchers struggling to find the best home for their manuscripts which can be a daunting prospect after several long months producing research. Submitting to the wrong journal can hinder the impact of your manuscript. It could even result in a series of rejections, stalling both your research and career. Conversely, the right journal can help you showcase your research to the world in an environment consistent with your values.

Keep reading to learn how solutions like Journal Citation Reports ™ (JCR) and Master Journal List can help you find the right journal for your research in the fastest possible time.

What to look for in a journal and why

To find the right journal for your research paper, it’s important to consider what you need and want out of the publishing process.

The goal for many researchers is to find a prestigious, peer-reviewed journal to publish in. This might be one that can support an application for tenure, promotion or future funding. It’s not always that simple, however. If your research is in a specialized field, you may want to avoid a journal with a multidisciplinary focus. And if you have ground-breaking results, you may want to pay attention to journals with a speedy review process and frequent publication schedule. Moreover, you may want to publish your paper as open access so that it’s accessible to everyone—and your institution or funder may also require this.

With so many points to consider, it’s good practice to have a journal in mind before you start writing. We published an earlier post to help you with this: Find top journals in a research field, step-by-step guide . Check it out to discover where the top researchers in your field are publishing.

Already written your manuscript? No problem: this blog will help you use publisher-neutral data and statistics to choose the right journal for your paper.

First stop: Manuscript Matcher in the Master Journal List

Master Journal List Manuscript Matcher is the ultimate place to begin your search for journals. It is a free tool that helps you narrow down your journal options based on your research topic and goals.

Find the right journal with Master Journal List

Pairing your research with a journal

Manuscript Matcher, also available via EndNote™ , provides a list of relevant journals indexed in the Web of Science™ . First, you’ll want to input your title and abstract (or keywords, if you prefer). You can then filter your results using the options shown on the left-hand sidebar, or simply click on the profile page of any journal listed.

Each journal page details the journal’s coverage in the Web of Science. Where available, it may also display a wealth of information, including:

open access information (including whether a journal is Gold OA)
the journal’s aims and scope
download statistics
average number of weeks from submission to publication, and
peer review information (including type and policy)

Ready to try Manuscript Matcher? Follow this link .

Identify the journals that are a good topical fit for your research using Manuscript Matcher. You can then move to Journal Citation Reports to understand their citation impact, audience and open access statistics.

Find the right journal with Journal Citation Reports

Journal Citation Reports is the most powerful solution for journal intelligence. It uses transparent, publisher-neutral data and statistics to provide unique insight into a journal’s role and influence. This will help you produce a definitive list of journals best-placed to publish your findings, and more.

Three data points exist on every journal page to help you assess a journal as a home for your research. These are: citation metrics, article relevance and audience.

Citation Metrics

The Journal Impact Factor™ (JIF) is included as part of the rich array of citation metrics offered on each journal page. It shows how often a journal’s recently published material is cited on average.

Learn how the JIF is calculated in this guide .

It’s important to note that the JIF has its limitations and no researcher should depend on the impact factor alone when assessing the usefulness or prestige of a journal. Journal Citation Reports helps you understand the context of a journal’s JIF and how to use the metric responsibly.

The JCR Trend Graph, for example, places the JIF in the context of time and subject category performance. Citation behavior varies across disciplines, and journals in JCR may be placed across multiple subject categories depending on the scope of their content. The Trend Graph shows you how the journal performs against others in the same subject category. It also gives you an understanding of how stable that performance is year-on-year.

You can learn more about this here .

The 2021 JCR release introduced a new, field-normalized metric for measuring the citation impact of a journal’s recent publications. By normalizing for different fields of research and their widely varying rates of publication and citation, the Journal Citation Indicator provides a single journal-level metric that can be easily interpreted and compared across disciplines. Learn more about the Journal Citation Indicator here .

Article relevance

The Contributing Items section in JCR demonstrates whether the journal is a good match for your paper. It can also validate the information you found in the Manuscript Matcher. You can view the full list in the Web of Science by selecting “Show all.”

JCR helps you understand the scholarly community engaging with a journal on both a country and an institutional level. This information provides insight on where in the world your own paper might have an impact if published in that particular journal. It also gives you a sense of general readership, and who you might be talking to if you choose that journal.

Start using Journal Citation Reports today .

Ready to find the right journal for your paper?

The expansion of scholarly journals in previous years has made it difficult for researchers to choose the right journal for their research. This isn’t a good position to be in when you’ve spent many long months preparing your research for the world. Journal Citation Reports , Manuscript Matcher by Master Journal List and the Web of Science are all products dedicated to helping you find the right home for your paper. Try them out today and help your research flourish.

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Want to learn more? You can also read related articles in our Research Smarter series, with guidance on finding the relevant papers for your research and how you can save hundreds of hours in the writing process . You can also read about the 2022 JCR release here . Finally, subscribe to receive our latest news, resources and events to help make your research journey a smart one.

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Oriol Dols-Icardo ORCID: orcid.org/0000-0003-2656-8748 1 , 2 ,
Lídia Vaqué-Alcázar 1 , 4 ,
Laura Videla ORCID: orcid.org/0000-0002-9748-8465 1 , 2 , 3 ,
Juan Domingo Gispert 5 , 6 , 7 , 8 , 9 ,
Marc Suárez-Calvet ORCID: orcid.org/0000-0002-2993-569X 5 , 6 , 7 , 8 , 9 ,
Sterling C. Johnson ORCID: orcid.org/0000-0002-8501-545X 10 ,
Reisa Sperling ORCID: orcid.org/0000-0003-1535-6133 11 ,
Alexandre Bejanin ORCID: orcid.org/0000-0002-9958-0951 1 , 2 ,
Alberto Lleó ORCID: orcid.org/0000-0002-2568-5478 1 , 2 &
Víctor Montal ORCID: orcid.org/0000-0002-5714-9282 1 , 2 , 12 na1

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Alzheimer's disease
Predictive markers

This study aimed to evaluate the impact of APOE4 homozygosity on Alzheimer’s disease (AD) by examining its clinical, pathological and biomarker changes to see whether APOE4 homozygotes constitute a distinct, genetically determined form of AD. Data from the National Alzheimer’s Coordinating Center and five large cohorts with AD biomarkers were analyzed. The analysis included 3,297 individuals for the pathological study and 10,039 for the clinical study. Findings revealed that almost all APOE4 homozygotes exhibited AD pathology and had significantly higher levels of AD biomarkers from age 55 compared to APOE3 homozygotes. By age 65, nearly all had abnormal amyloid levels in cerebrospinal fluid, and 75% had positive amyloid scans, with the prevalence of these markers increasing with age, indicating near-full penetrance of AD biology in APOE4 homozygotes. The age of symptom onset was earlier in APOE4 homozygotes at 65.1, with a narrower 95% prediction interval than APOE3 homozygotes. The predictability of symptom onset and the sequence of biomarker changes in APOE4 homozygotes mirrored those in autosomal dominant AD and Down syndrome. However, in the dementia stage, there were no differences in amyloid or tau positron emission tomography across haplotypes, despite earlier clinical and biomarker changes. The study concludes that APOE4 homozygotes represent a genetic form of AD, suggesting the need for individualized prevention strategies, clinical trials and treatments.

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Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

Association of APOE e2 genotype with Alzheimer’s and non-Alzheimer’s neurodegenerative pathologies

Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies

Data availability.

Access to tabular data from ADNI ( https://adni.loni.usc.edu/ ), OASIS ( https://oasis-brains.org/ ), A4 ( https://ida.loni.usc.edu/collaboration/access/appLicense.jsp ) and NACC ( https://naccdata.org/ ) can be requested online, as publicly available databases. All requests will be reviewed by each studyʼs scientific board. Concrete inquiries to access the WRAP ( https://wrap.wisc.edu/data-requests-2/ ) and ALFA + ( https://www.barcelonabeta.org/en/alfa-study/about-the-alfa-study ) cohort data can be directed to each study team for concept approval and feasibility consultation. Requests will be reviewed to verify whether the request is subject to any intellectual property.

Code availability

All statistical analyses and raw figures were generated using R (v.4.2.2). We used the open-sourced R packages of ggplot2 (v.3.4.3), dplyr (v.1.1.3), ggstream (v.0.1.0), ggpubr (v.0.6), ggstatsplot (v.0.12), Rmisc (v.1.5.1), survival (v.3.5), survminer (v.0.4.9), gtsummary (v.1.7), epitools (v.0.5) and statsExpression (v.1.5.1). Rscripts to replicate our findings can be found at https://gitlab.com/vmontalb/apoe4-asdad (ref. 32 ). For neuroimaging analyses, we used Free Surfer (v.6.0) and ANTs (v.2.4.0).

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Acknowledgements

We acknowledge the contributions of several consortia that provided data for this study. We extend our appreciation to the NACC, the Alzheimer’s Disease Neuroimaging Initiative, The A4 Study, the ALFA Study, the Wisconsin Register for Alzheimer’s Prevention and the OASIS3 Project. Without their dedication to advancing Alzheimer’s disease research and their commitment to data sharing, this study would not have been possible. We also thank all the participants and investigators involved in these consortia for their tireless efforts and invaluable contributions to the field. We also thank the institutions that funded this study, the Fondo de Investigaciones Sanitario, Carlos III Health Institute, the Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas and the Generalitat de Catalunya and La Caixa Foundation, as well as the NIH, Horizon 2020 and the Alzheimer’s Association, which was crucial for this research. Funding: National Institute on Aging. This study was supported by the Fondo de Investigaciones Sanitario, Carlos III Health Institute (INT21/00073, PI20/01473 and PI23/01786 to J.F., CP20/00038, PI22/00307 to A.B., PI22/00456 to M.S.-C., PI18/00435 to D.A., PI20/01330 to A.L.) and the Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas Program 1, partly jointly funded by Fondo Europeo de Desarrollo Regional, Unión Europea, Una Manera de Hacer Europa. This work was also supported by the National Institutes of Health grants (R01 AG056850; R21 AG056974, R01 AG061566, R01 AG081394 and R61AG066543 to J.F., S10 OD025245, P30 AG062715, U54 HD090256, UL1 TR002373, P01 AG036694 and P50 AG005134 to R.S.; R01 AG027161, R01 AG021155, R01 AG037639, R01 AG054059; P50 AG033514 and P30 AG062715 to S.J.) and ADNI (U01 AG024904), the Department de Salut de la Generalitat de Catalunya, Pla Estratègic de Recerca I Innovació en Salut (SLT006/17/00119 to J.F.; SLT002/16/00408 to A.L.) and the A4 Study (R01 AG063689, U24 AG057437 to R.A.S). It was also supported by Fundación Tatiana Pérez de Guzmán el Bueno (IIBSP-DOW-2020-151 o J.F.) and Horizon 2020–Research and Innovation Framework Programme from the European Union (H2020-SC1-BHC-2018-2020 to J.F.; 948677 and 847648 to M.S.-C.). La Caixa Foundation (LCF/PR/GN17/50300004 to M.S.-C.) and EIT Digital (Grant 2021 to J.D.G.) also supported this work. The Alzheimer Association also participated in the funding of this work (AARG-22-923680 to A.B.) and A4/LEARN Study AA15-338729 to R.A.S.). O.D.-I. receives funding from the Alzheimer’s Association (AARF-22-924456) and the Jerome Lejeune Foundation postdoctoral fellowship.

Author information

These authors contributed equally: Juan Fortea, Víctor Montal.

Authors and Affiliations

Sant Pau Memory Unit, Hospital de la Santa Creu i Sant Pau - Biomedical Research Institute Sant Pau, Barcelona, Spain

Juan Fortea, Jordi Pegueroles, Daniel Alcolea, Olivia Belbin, Oriol Dols-Icardo, Lídia Vaqué-Alcázar, Laura Videla, Alexandre Bejanin, Alberto Lleó & Víctor Montal

Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas. CIBERNED, Barcelona, Spain

Juan Fortea, Jordi Pegueroles, Daniel Alcolea, Olivia Belbin, Oriol Dols-Icardo, Laura Videla, Alexandre Bejanin, Alberto Lleó & Víctor Montal

Barcelona Down Medical Center, Fundació Catalana Síndrome de Down, Barcelona, Spain

Juan Fortea & Laura Videla

Department of Medicine, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, Barcelona, Spain

Lídia Vaqué-Alcázar

Barcelonaβeta Brain Research Center (BBRC), Pasqual Maragall Foundation, Barcelona, Spain

Juan Domingo Gispert & Marc Suárez-Calvet

Neurosciences Programme, IMIM - Hospital del Mar Medical Research Institute, Barcelona, Spain

Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain

Centro de Investigación Biomédica en Red Bioingeniería, Biomateriales y Nanomedicina. Instituto de Salud carlos III, Madrid, Spain

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain

Wisconsin Alzheimer’s Disease Research Center, University of Wisconsin-Madison School of Medicine and Public Health, Madison, WI, USA

Sterling C. Johnson

Brigham and Women’s Hospital Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

Reisa Sperling

Barcelona Supercomputing Center, Barcelona, Spain

Víctor Montal

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Contributions

J.F. and V.M. conceptualized the research project and drafted the initial manuscript. V.M., J.P. and J.F. conducted data analysis, interpreted statistical findings and created visual representations of the data. O.B. and O.D.-I. provided valuable insights into the genetics of APOE. L.V., A.B. and L.V.-A. meticulously reviewed and edited the manuscript for clarity, accuracy and coherence. J.D.G., M.S.-C., S.J. and R.S. played pivotal roles in data acquisition and securing funding. A.L. and D.A. contributed to the study design, offering guidance and feedback on statistical analyses, and provided critical review of the paper. All authors carefully reviewed the manuscript, offering pertinent feedback that enhanced the study’s quality, and ultimately approved the final version.

Corresponding authors

Correspondence to Juan Fortea or Víctor Montal .

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Competing interests.

S.C.J. has served at scientific advisory boards for ALZPath, Enigma and Roche Diagnostics. M.S.-C. has given lectures in symposia sponsored by Almirall, Eli Lilly, Novo Nordisk, Roche Diagnostics and Roche Farma, received consultancy fees (paid to the institution) from Roche Diagnostics and served on advisory boards of Roche Diagnostics and Grifols. He was granted a project and is a site investigator of a clinical trial (funded to the institution) by Roche Diagnostics. In-kind support for research (to the institution) was received from ADx Neurosciences, Alamar Biosciences, Avid Radiopharmaceuticals, Eli Lilly, Fujirebio, Janssen Research & Development and Roche Diagnostics. J.D.G. has served as consultant for Roche Diagnostics, receives research funding from Hoffmann–La Roche, Roche Diagnostics and GE Healthcare, has given lectures in symposia sponsored by Biogen, Philips Nederlands, Esteve and Life Molecular Imaging and serves on an advisory board for Prothena Biosciences. R.S. has received personal consulting fees from Abbvie, AC Immune, Acumen, Alector, Bristol Myers Squibb, Janssen, Genentech, Ionis and Vaxxinity outside the submitted work. O.B. reported receiving personal fees from Adx NeuroSciences outside the submitted work. D.A. reported receiving personal fees for advisory board services and/or speaker honoraria from Fujirebio-Europe, Roche, Nutricia, Krka Farmacéutica and Esteve, outside the submitted work. A.L. has served as a consultant or on advisory boards for Almirall, Fujirebio-Europe, Grifols, Eisai, Lilly, Novartis, Roche, Biogen and Nutricia, outside the submitted work. J.F. reported receiving personal fees for service on the advisory boards, adjudication committees or speaker honoraria from AC Immune, Adamed, Alzheon, Biogen, Eisai, Esteve, Fujirebio, Ionis, Laboratorios Carnot, Life Molecular Imaging, Lilly, Lundbeck, Perha, Roche and outside the submitted work. O.B., D.A., A.L. and J.F. report holding a patent for markers of synaptopathy in neurodegenerative disease (licensed to Adx, EPI8382175.0). The remaining authors declare no competing interests.

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Fortea, J., Pegueroles, J., Alcolea, D. et al. APOE4 homozygozity represents a distinct genetic form of Alzheimer’s disease. Nat Med (2024). https://doi.org/10.1038/s41591-024-02931-w

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Received : 03 November 2023

Accepted : 19 March 2024

Published : 06 May 2024

DOI : https://doi.org/10.1038/s41591-024-02931-w

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