ArticleG3 (Bethesda, Md.)2013
Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study.
Article in G3 (Bethesda, Md.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 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
- AI-powered precision medicine: utilizing genetic risk factor optimization to revolutionize healthcare.NAR genomics and bioinformatics · 2025Review
- Blood cell traits and venous thromboembolism in East Asians: Observational and genetic evidence.iScience · 2024Article
- Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly.HGG advances · 2023Article
- Importance of Diversity in Precision Medicine: Generalizability of Genetic Associations Across Ancestry Groups Toward Better Identification of Disease Susceptibility Variants.Annual review of biomedical data science · 2023Review
- Article
- Similarity-Based Analysis of Allele Frequency Distribution among Multiple Populations Identifies Adaptive Genomic Structural Variants.Molecular biology and evolution · 2022Article
- Evaluation of Stillbirth Among Pregnant People With Sickle Cell Trait.JAMA network open · 2021Article
- Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage.The Journal of clinical investigation · 2021Article
- Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.BMC genomics · 2020Article
- Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?Journal of tropical medicine · 2020Article
- Human Genomic Loci Important in Common Infectious Diseases: Role of High-Throughput Sequencing and Genome-Wide Association Studies.The Canadian journal of infectious diseases & medical microbiology = Journal canadien des maladies infectieuses et de la microbiologie medicale · 2018Review
- HbA1c for type 2 diabetes diagnosis in Africans and African Americans: Personalized medicine NOW!PLoS medicine · 2017Article
- Integrating electronic health record genotype and phenotype datasets to transform patient care.Clinical pharmacology and therapeutics · 2016Article
- Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry.PloS one · 2016Article
- From GWAS to function: lessons from blood cells.ISBT science series · 2016Article
- The effects of electronic medical record phenotyping details on genetic association studies: HDL-C as a case study.BioData mining · 2015Article
- Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies.PloS one · 2015Article
- Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.Nature communications · 2014Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
Abstract
To identify novel genetic loci influencing interindividual variation in red blood cell (RBC) traits in African-Americans, we conducted a genome-wide association study (GWAS) in 2315 individuals, divided into discovery (n = 1904) and replication (n = 411) cohorts. The traits included hemoglobin concentration (HGB), hematocrit (HCT), RBC count, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC). Patients were participants in the electronic MEdical Records and GEnomics (eMERGE) network and underwent genotyping of ~1.2 million single-nucleotide polymorphisms on the Illumina Human1M-Duo array. Association analyses were performed adjusting for age, sex, site, and population stratification. Three loci previously associated with resistance to malaria-HBB (11p15.4), HBA1/HBA2 (16p13.3), and G6PD (Xq28)-were associated (P ≤ 1 × 10(-6)) with RBC traits in the discovery cohort. The loci replicated in the replication cohort (P ≤ 0.02), and were significant at a genome-wide significance level (P < 5 × 10(-8)) in the combined cohort. The proportions of variance in RBC traits explained by significant variants at these loci were as follows: rs7120391 (near HBB) 1.3% of MCHC, rs9924561 (near HBA1/A2) 5.5% of MCV, 6.9% of MCH and 2.9% of MCHC, and rs1050828 (in G6PD) 2.4% of RBC count, 2.9% of MCV, and 1.4% of MCH, respectively. We were not able to replicate loci identified by a previous GWAS of RBC traits in a European ancestry cohort of similar sample size, suggesting that the genetic architecture of RBC traits differs by race. In conclusion, genetic variants that confer resistance to malaria are associated with RBC traits in African-Americans.
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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.