ArticleHuman genetics2014
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
Article in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 4 of them syntheses that pooled it.
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Who cites it
87 citing papers in PubMed, 4 syntheses or guidelines pooled it, 147 citations in OpenAlex.
- Genetic variants associated with platelet count are predictive of human disease and physiological markers.Communications biology · 2021Pooled it
- Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.Nature genetics · 2016Pooled it
- Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.American journal of human genetics · 2016Pooled it
- Cross Cancer Genomic Investigation of Inflammation Pathway for Five Common Cancers: Lung, Ovary, Prostate, Breast, and Colorectal Cancer.Journal of the National Cancer Institute · 2015Pooled it
- Article
- Integrating genomic structural equation modeling and experimental validation to unravel the genetic basis of male genital lichen sclerosus.Frontiers in immunology · 2026Article
- Characterization of shared and ancestry-specific signals driving complex traits using multi-ancestry fine-mapping.medRxiv : the preprint server for health sciences · 2025Article
- Assessing Stroke Recurrence Risk by Using a Lipoprotein-Associated Phospholipase A2 and Platelet Count-Based Nomogram.Molecular neurobiology · 2025Article
- Single nucleotide polymorphism rs7961894, platelet morphological parameters and lipid profile in children with type 1 diabetes: a potential relationship.European journal of pediatrics · 2024Article
- Ribosomal DNA copy number variation associates with hematological profiles and renal function in the UK Biobank.Cell genomics · 2024Article
- Volumetric brain MRI signatures of heart failure with preserved ejection fraction in the setting of dementia.Magnetic resonance imaging · 2024Article
- Development of phenotyping algorithms for hypertensive disorders of pregnancy (HDP) and their application in more than 22,000 pregnant women.Scientific reports · 2024Article
- Genomic Variation Affecting MPV and PLT Count in Association with Development of Ischemic Stroke and Its Subtypes.Molecular neurobiology · 2023Article
- Substrate-specific effects of natural genetic variation on proteasome activity.PLoS genetics · 2023Article
- Article
- Secondary analyses for genome-wide association studies using expression quantitative trait loci.Genetic epidemiology · 2022Article
- Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.Human molecular genetics · 2022Article
- Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations.Blood advances · 2022Article
- Early Change in Platelet Count and MPV Levels of Patients Who Received Hemodialysis for the First Time: Mogadishu Somalia Experience.International journal of clinical practice · 2022Article
- A transcriptome-wide association study of uterine fibroids to identify potential genetic markers and toxic chemicals.PloS one · 2022Article
27 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 9 institutions in 2 countries.
Funding
Abstract
Platelets are enucleated cell fragments derived from megakaryocytes that play key roles in hemostasis and in the pathogenesis of atherothrombosis and cancer. Platelet traits are highly heritable and identification of genetic variants associated with platelet traits and assessing their pleiotropic effects may help to understand the role of underlying biological pathways. We conducted an electronic medical record (EMR)-based study to identify common variants that influence inter-individual variation in the number of circulating platelets (PLT) and mean platelet volume (MPV), by performing a genome-wide association study (GWAS). We characterized genetic variants associated with MPV and PLT using functional, pathway and disease enrichment analyses; we assessed pleiotropic effects of such variants by performing a phenome-wide association study (PheWAS) with a wide range of EMR-derived phenotypes. A total of 13,582 participants in the electronic MEdical Records and GEnomic network had data for PLT and 6,291 participants had data for MPV. We identified five chromosomal regions associated with PLT and eight associated with MPV at genome-wide significance (P < 5E-8). In addition, we replicated 20 SNPs [out of 56 SNPs (α: 0.05/56 = 9E-4)] influencing PLT and 22 SNPs [out of 29 SNPs (α: 0.05/29 = 2E-3)] influencing MPV in a published meta-analysis of GWAS of PLT and MPV. While our GWAS did not find any new associations, our functional analyses revealed that genes in these regions influence thrombopoiesis and encode kinases, membrane proteins, proteins involved in cellular trafficking, transcription factors, proteasome complex subunits, proteins of signal transduction pathways, proteins involved in megakaryocyte development, and platelet production and hemostasis. PheWAS using a single-SNP Bonferroni correction for 1,368 diagnoses (0.05/1368 = 3.6E-5) revealed that several variants in these genes have pleiotropic associations with myocardial infarction, autoimmune, and hematologic disorders. We conclude that multiple genetic loci influence interindividual variation in platelet traits and also have significant pleiotropic effects; the related genes are in multiple functional pathways including those relevant to thrombopoiesis.
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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.