Evidence map›Paper›PMID 42238399›Full record

ArticlemedRxiv : the preprint server for health sciences2026

A genome-wide meta-analysis identifies a sex-specific genetic effect for platelet aggregation in response to agonists.

Julius S Ngwa, Ming-Huei Chen, Gaynor Brady, Lisa R Yanek, Kai Kammers, Kanika Kanchan, Margaret A Taub, Yuzheng Dun, Nilanjan Chatterjee, Kathleen A Ryan and 7 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Julius S NgwaDeveloping Brain Institute, Center for Prenatal, Neonatal & Maternal Health Research, Children's National Hospital, Washington, DC 20010, USA.
Ming-Huei ChenPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA.
Gaynor BradyDepartment of Medicine, Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Lisa R YanekDivision of General Internal Medicine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Kai KammersQuantitative Sciences Division, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Kanika KanchanGenomics and Precision Health Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Margaret A TaubDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
Yuzheng DunDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
Nilanjan ChatterjeeDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
Kathleen A RyanDepartment of Medicine, Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
NHLBI Trans-Omics for Precision (TOPMed) Consortium
Lewis C BeckerDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Rasika A MathiasGenomics and Precision Health Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Joshua P LewisDepartment of Medicine, Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Andrew D JohnsonPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA.
Nauder FaradayDepartment of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Ingo RuczinskiDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.ORCID 0000-0003-3278-6274

Funding

ZINC AND CA EDTA THERAPY OF PLUMBISMM01RR000052 · NCRR · JOHNS HOPKINS UNIVERSITY · PI VINING, EILEEN PATRICE · 1985 to 2007
$37.3M
FRAMINGHAM HEART STUDY - YEAR 5 EXAM75N92019D00031 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · 2019 to 2024
$29.8M
Cardiovascular Genomics and Bioinformatics projectsZIAHL006170 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI JOHNSON, ANDREW · 2013 to 2025
$25.3M
Research BaseP30DK072488 · NIDDK · UNIVERSITY OF MARYLAND BALTIMORE · PI MITCHELL, BRAXTON D, TAYLOR, SIMEON I. · 2005 to 2019
$17.3M
Pharmacogenomics of Anti-platlet Intervention-2 (PAPI-2) StudyU01HL105198 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2010 to 2014
$13.6M
Genotypic Determinants of Aspirin Response in High Risk FamiliesU01HL072518 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI BECKER, LEWIS C · 2002 to 2008
$12.8M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Pharmacogenomics of CVD risk ReductionU01GM074518 · NIGMS · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2005 to 2009
$7.3M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
A Family-based Exome Sequencing Approach to Identify Platelet Aggregation GenesR01HL112064 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI MATHIAS, RASIKA ANN · 2012 to 2015
$5.1M
Genome-Wide Association of Platelet PhenotypesR01HL087698 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI BECKER, LEWIS C · 2007 to 2009
$3.8M
Intramural NIH HHS ZIA HL006170NCRR NIH HHS M01 RR000052NHLBI NIH HHS 75N92019D00031NHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS HHSN268201500014CNHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS N01 HC025195NHLBI NIH HHS R01 HL087698NHLBI NIH HHS R01 HL112064NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL118356NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL121007NHLBI NIH HHS R01 HL137922NHLBI NIH HHS U01 HL072518NHLBI NIH HHS U01 HL105198NHLBI NIH HHS U01 HL120393NIDDK NIH HHS P30 DK072488NIGMS NIH HHS U01 GM074518
6 · The paper itself

Abstract

Sex-specific genetic effects on platelet aggregation may contribute to differences in thrombotic risk between women and men, yet the underlying genetic mechanisms remain poorly defined. We performed whole-genome sequencing-based genome-wide association studies (GWAS) of 19 harmonized platelet aggregation phenotypes in response to ADP, epinephrine (EPI), and collagen across three independent cohorts: GeneSTAR, the Framingham Heart Study and the Old Order Amish. Our meta-analysis identified a cluster of low-frequency variants within a 20 kb region on chromosome 10 showing strong sex-specific associations with platelet aggregation in response to low-dose EPI. The lead variant, rs116725046, exhibited a genome-wide significant sex interaction (p = 5.2 × 10

Identifiers

PMID42238399
PMCPMC13228654

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.