ArticleNature communications2021
Genome sequencing unveils a regulatory landscape of platelet reactivity.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 51 citations in OpenAlex.
- Leveraging Mendelian randomization to inform drug discovery and development for ischemic stroke.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- A genome-wide meta-analysis identifies a sex-specific genetic effect for platelet aggregation in response to agonists.medRxiv : the preprint server for health sciences · 2026Article
- Deep plasma and tissue proteome profiling of knockout mice reveals pathways associated withJournal of molecular and cellular cardiology plus · 2025Article
- Identification of platelet function-related genes in STEMI patients.Frontiers in genetics · 2025Article
- G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets.Research and practice in thrombosis and haemostasis · 2024Article
- Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.Blood · 2024Article
- Factors that modulate platelet reactivity as measured by 5 assay platforms in 3429 individuals.Research and practice in thrombosis and haemostasis · 2024Article
- Article
- Mitofusin-2 Regulates Platelet Mitochondria and Function.Circulation research · 2024Article
- Identification of potential biological processes and key genes in diabetes-related stroke through weighted gene co-expression network analysis.BMC medical genomics · 2024Article
- Perturbational phenotyping of human blood cells reveals genetically determined latent traits associated with subsets of common diseases.Nature genetics · 2024Article
- An Update on the Genetics of IgA Nephropathy.Journal of clinical medicine · 2023Review
- Article
- Article
- Genetics of predicted platelet reactivity.Blood · 2023Article
- The emerging Janus face of SVEP1 in development and disease.Trends in molecular medicine · 2023Review
- Review
- SVEP1 is an endogenous ligand for the orphan receptor PEAR1.Nature communications · 2023Article
- [Research progress of Molecular diagnostic technique in Venous Thromboembolism].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2022Article
- Vascular smooth muscle- and myeloid cell-derived integrin α9β1 does not directly mediate the development of atherosclerosis in mice.Atherosclerosis · 2022Article
Corrections and comments
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Authors and funding
29 authors at 20 institutions in 5 countries.
Funding
Abstract
Platelet aggregation at the site of atherosclerotic vascular injury is the underlying pathophysiology of myocardial infarction and stroke. To build upon prior GWAS, here we report on 16 loci identified through a whole genome sequencing (WGS) approach in 3,855 NHLBI Trans-Omics for Precision Medicine (TOPMed) participants deeply phenotyped for platelet aggregation. We identify the RGS18 locus, which encodes a myeloerythroid lineage-specific regulator of G-protein signaling that co-localizes with expression quantitative trait loci (eQTL) signatures for RGS18 expression in platelets. Gene-based approaches implicate the SVEP1 gene, a known contributor of coronary artery disease risk. Sentinel variants at RGS18 and PEAR1 are associated with thrombosis risk and increased gastrointestinal bleeding risk, respectively. Our WGS findings add to previously identified GWAS loci, provide insights regarding the mechanism(s) by which genetics may influence cardiovascular disease risk, and underscore the importance of rare variant and regulatory approaches to identifying loci contributing to complex phenotypes.
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Registered trials
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.