ArticleHuman genetics2011
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 15 of them syntheses that pooled it.
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Who cites it
62 citing papers in PubMed, 15 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.American journal of human genetics · 2017Pooled it
- Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.PloS one · 2016Pooled it
- Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations.Human molecular genetics · 2014Pooled it
- Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.American journal of human genetics · 2014Pooled it
- Loci influencing blood pressure identified using a cardiovascular gene-centric array.Human molecular genetics · 2013Pooled it
- GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.Human molecular genetics · 2013Pooled it
- Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.Human molecular genetics · 2013Pooled it
- Common variants within 6p21.31 locus are associated with chronic lymphocytic leukaemia and, potentially, other non-Hodgkin lymphoma subtypes.British journal of haematology · 2012Pooled it
- Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.American journal of human genetics · 2012Pooled it
- Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.American journal of human genetics · 2012Pooled it
- A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.PLoS genetics · 2012Pooled it
- Pooled it
- Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.Human molecular genetics · 2011Pooled it
- Genetic association for renal traits among participants of African ancestry reveals new loci for renal function.PLoS genetics · 2011Pooled it
- Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).PLoS genetics · 2011Pooled it
- Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies.Molecular genetics & genomic medicine · 2019Trial
- SPLENDID incorporates continuous genetic ancestry in biobank-scale data to improve polygenic risk prediction across diverse populations.Nature methods · 2026Article
- C282Y Homozygosity Increases Erythrocyte Turnover and Decreases HbA1c-A Population-Based Study.International journal of molecular sciences · 2026Article
- Incorporating local ancestry information to predict genetically associated DNA methylation in admixed populations.Briefings in bioinformatics · 2025Observational
- Genetic variants associated with white blood cell count amongst individuals with sickle cell disease.British journal of haematology · 2024Article
2 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors at 12 institutions in 2 countries.
Funding
Abstract
Red blood cell, white blood cell, and platelet measures, including their count, sub-type and volume, are important diagnostic and prognostic clinical parameters for several human diseases. To identify novel loci associated with hematological traits, and compare the architecture of these phenotypes between ethnic groups, the CARe Project genotyped 49,094 single nucleotide polymorphisms (SNPs) that capture variation in ~2,100 candidate genes in DNA of 23,439 Caucasians and 7,112 African Americans from five population-based cohorts. We found strong novel associations between erythrocyte phenotypes and the glucose-6 phosphate dehydrogenase (G6PD) A-allele in African Americans (rs1050828, P<2.0×10(-13), T-allele associated with lower red blood cell count, hemoglobin, and hematocrit, and higher mean corpuscular volume), and between platelet count and a SNP at the tropomyosin-4 (TPM4) locus (rs8109288, P=3.0×10(-7) in Caucasians; P=3.0×10(-7) in African Americans, T-allele associated with lower platelet count). We strongly replicated many genetic associations to blood cell phenotypes previously established in Caucasians. A common variant of the α-globin (HBA2-HBA1) locus was associated with red blood cell traits in African Americans, but not in Caucasians (rs1211375, P<7×10(-8), A-allele associated with lower hemoglobin, mean corpuscular hemoglobin, and mean corpuscular volume). Our results show similarities but also differences in the genetic regulation of hematological traits in European- and African-derived populations, and highlight the role of natural selection in shaping these differences.
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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.