Title | Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. |
Publication Type | Journal Article |
Year of Publication | 2016 |
Authors | Chami N, Chen M-H, Slater AJ, et al. |
Secondary Authors | Lettre G |
Journal | Am J Hum Genet |
Volume | 99 |
Issue | 1 |
Pagination | 8-21 |
Date Published | 2016 Jul 07 |
ISSN | 1537-6605 |
Keywords | African Americans, Allelic Imbalance, Erythrocyte Indices, Erythrocytes, Erythropoiesis, Exome, Gene Frequency, Genetic Pleiotropy, Genetic Variation, Genotype, Hematocrit, Hemoglobins, Humans, Quantitative Trait Loci |
Abstract | Red blood cell (RBC) traits are important heritable clinical biomarkers and modifiers of disease severity. To identify coding genetic variants associated with these traits, we conducted meta-analyses of seven RBC phenotypes in 130,273 multi-ethnic individuals from studies genotyped on an exome array. After conditional analyses and replication in 27,480 independent individuals, we identified 16 new RBC variants. We found low-frequency missense variants in MAP1A (rs55707100, minor allele frequency [MAF] = 3.3%, p = 2 × 10(-10) for hemoglobin [HGB]) and HNF4A (rs1800961, MAF = 2.4%, p |
DOI | 10.1016/j.ajhg.2016.05.007 |
Alternate Journal | Am J Hum Genet |
PubMed ID | 27346685 |
PubMed Central ID | PMC5005438 |
Grant List | R01 HL112064 / HL / NHLBI NIH HHS / United States R01 DK060022 / DK / NIDDK NIH HHS / United States R01 HL120393 / HL / NHLBI NIH HHS / United States R01 HL107816 / HL / NHLBI NIH HHS / United States R01 HL122684 / HL / NHLBI NIH HHS / United States P30 DK056341 / DK / NIDDK NIH HHS / United States UL1 TR000124 / TR / NCATS NIH HHS / United States MR/K026992/1 / / Medical Research Council / United Kingdom S10 OD018522 / OD / NIH HHS / United States R01 HL105756 / HL / NHLBI NIH HHS / United States P30 DK063491 / DK / NIDDK NIH HHS / United States R01 HD074711 / HD / NICHD NIH HHS / United States MC_PC_U127561128 / / Medical Research Council / United Kingdom R01 DK033301 / DK / NIDDK NIH HHS / United States R21 HL121429 / HL / NHLBI NIH HHS / United States T32 HL007055 / HL / NHLBI NIH HHS / United States R21 HL121422 / HL / NHLBI NIH HHS / United States |