ArticleHuman molecular genetics2013
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 4 of them syntheses that pooled it.
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Who cites it
44 citing papers in PubMed, 4 syntheses or guidelines pooled it, 76 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
- Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.American journal of human genetics · 2016Pooled it
- Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.PloS one · 2016Pooled it
- Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.Diabetes · 2014Pooled it
- Admixture mapping identifies complex trait associations with local ancestry in themedRxiv : the preprint server for health sciences · 2025Article
- Genetic determinants of plasma testosterone in male blood donors are associated with altered red blood cell characteristics and survival in cold storage and after transfusion.Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis · 2024Article
- Proteogenomic analysis integrated with electronic health records data reveals disease-associated variants in Black Americans.The Journal of clinical investigation · 2024Article
- Adaptive selection at G6PD and disparities in diabetes complications.Nature medicine · 2024Article
- Red cell distribution width and its polygenic score in relation to mortality and cardiometabolic outcomes.Frontiers in cardiovascular medicine · 2023Article
- Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program.Nature communications · 2022Article
- Fount, fate, features, and function of renal erythropoietin-producing cells.Pflugers Archiv : European journal of physiology · 2022Review
- Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.Antimicrobial agents and chemotherapy · 2021Article
- An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.Genome medicine · 2021Article
- Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.American journal of human genetics · 2021Article
- An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.medRxiv : the preprint server for health sciences · 2020Article
- Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits.Nature genetics · 2020Article
- Platelet and hemoglobin count at diagnosis are associated with survival in African American and Caucasian patients with colorectal cancer.Cancer epidemiology · 2020Article
- Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.BMC genomics · 2020Article
- Differences in the frequency of genetic variants associated with iron imbalance among global populations.PloS one · 2020Article
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Authors and funding
38 authors at 19 institutions in 4 countries.
Funding
Abstract
Laboratory red blood cell (RBC) measurements are clinically important, heritable and differ among ethnic groups. To identify genetic variants that contribute to RBC phenotypes in African Americans (AAs), we conducted a genome-wide association study in up to ~16 500 AAs. The alpha-globin locus on chromosome 16pter [lead SNP rs13335629 in ITFG3 gene; P < 1E-13 for hemoglobin (Hgb), RBC count, mean corpuscular volume (MCV), MCH and MCHC] and the G6PD locus on Xq28 [lead SNP rs1050828; P < 1E - 13 for Hgb, hematocrit (Hct), MCV, RBC count and red cell distribution width (RDW)] were each associated with multiple RBC traits. At the alpha-globin region, both the common African 3.7 kb deletion and common single nucleotide polymorphisms (SNPs) appear to contribute independently to RBC phenotypes among AAs. In the 2p21 region, we identified a novel variant of PRKCE distinctly associated with Hct in AAs. In a genome-wide admixture mapping scan, local European ancestry at the 6p22 region containing HFE and LRRC16A was associated with higher Hgb. LRRC16A has been previously associated with the platelet count and mean platelet volume in AAs, but not with Hgb. Finally, we extended to AAs the findings of association of erythrocyte traits with several loci previously reported in Europeans and/or Asians, including CD164 and HBS1L-MYB. In summary, this large-scale genome-wide analysis in AAs has extended the importance of several RBC-associated genetic loci to AAs and identified allelic heterogeneity and pleiotropy at several previously known genetic loci associated with blood cell traits in AAs.
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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.