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Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene

Reich, David ; Nalls, Michael A ; Kao, W H Linda ; Akylbekova, Ermeg L ; Tandon, Arti ; Patterson, Nick ; Mullikin, James ; Hsueh, Wen-Chi ; Cheng, Ching-Yu ; Coresh, Josef ; Boerwinkle, Eric ; Li, Man ; Waliszewska, Alicja ; Neubauer, Julie ; Li, Rongling ; Leak, Tennille S ; Ekunwe, Lynette ; Files, Joe C ; Hardy, Cheryl L ; Zmuda, Joseph M ; Taylor, Herman A ; Ziv, Elad ; Harris, Tamara B ; Wilson, James G Visscher, Peter M.

PLoS genetics, 2009-01, Vol.5 (1), p.e1000360 [Periódico revisado por pares]

United States: Public Library of Science

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Título:
Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene
Autor: Reich, David ; Nalls, Michael A ; Kao, W H Linda ; Akylbekova, Ermeg L ; Tandon, Arti ; Patterson, Nick ; Mullikin, James ; Hsueh, Wen-Chi ; Cheng, Ching-Yu ; Coresh, Josef ; Boerwinkle, Eric ; Li, Man ; Waliszewska, Alicja ; Neubauer, Julie ; Li, Rongling ; Leak, Tennille S ; Ekunwe, Lynette ; Files, Joe C ; Hardy, Cheryl L ; Zmuda, Joseph M ; Taylor, Herman A ; Ziv, Elad ; Harris, Tamara B ; Wilson, James G
Visscher, Peter M.
Assuntos: Adult ; African Americans ; African Continental Ancestry Group - genetics ; Aged ; Aged, 80 and over ; Aging ; Artificial chromosomes ; Atherosclerosis ; Blood ; Blood cell count ; Case-Control Studies ; Chemokines ; Chromosomes, Human, Pair 1 - genetics ; Cloning ; Cohort Studies ; Duffy Blood-Group System - genetics ; Duffy Blood-Group System - immunology ; European Continental Ancestry Group - genetics ; Female ; Genealogy ; Genetic aspects ; Genetic variation ; Genetics ; Genetics and Genomics ; Genetics and Genomics/Gene Discovery ; Genetics and Genomics/Population Genetics ; Genomes ; Genomics ; Genotype ; Health aspects ; Heart ; Humans ; Immune system ; Leukocyte Count ; Male ; Middle Aged ; Neutrophils - chemistry ; Neutrophils - immunology ; Phenotype ; Polymorphism, Single Nucleotide ; Receptors, Cell Surface - genetics ; Receptors, Cell Surface - immunology
É parte de: PLoS genetics, 2009-01, Vol.5 (1), p.e1000360
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Conceived and designed the experiments: DR EZ TBH JGW. Performed the experiments: DR MAN ELA AT AW JN JGW. Analyzed the data: DR MAN WHLK ELA AT NP JM ML JGW. Contributed reagents/materials/analysis tools: DR MAN WHLK ELA AT NP JM WCH CYC JC EB RL TSL LE JCF CLH JMZ HAT EZ TBH JGW. Wrote the paper: DR JGW.
Descrição: Persistently low white blood cell count (WBC) and neutrophil count is a well-described phenomenon in persons of African ancestry, whose etiology remains unknown. We recently used admixture mapping to identify an approximately 1-megabase region on chromosome 1, where ancestry status (African or European) almost entirely accounted for the difference in WBC between African Americans and European Americans. To identify the specific genetic change responsible for this association, we analyzed genotype and phenotype data from 6,005 African Americans from the Jackson Heart Study (JHS), the Health, Aging and Body Composition (Health ABC) Study, and the Atherosclerosis Risk in Communities (ARIC) Study. We demonstrate that the causal variant must be at least 91% different in frequency between West Africans and European Americans. An excellent candidate is the Duffy Null polymorphism (SNP rs2814778 at chromosome 1q23.2), which is the only polymorphism in the region known to be so differentiated in frequency and is already known to protect against Plasmodium vivax malaria. We confirm that rs2814778 is predictive of WBC and neutrophil count in African Americans above beyond the previously described admixture association (P = 3.8 x 10(-5)), establishing a novel phenotype for this genetic variant.
Editor: United States: Public Library of Science
Idioma: Inglês

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Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene

United States: Public Library of Science

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