Reduced Neutrophil Count in People of African Descent Is Due To a Regulatory Variant in the Duffy Antigen Receptor for Chemokines Gene

• DOI: 10.1371/journal.pgen.1000360
• Publication Date: 2009-01-29T22:52:59Z
• Authors: David Reich; Michael A. Nalls; W. H. Linda Kao; Ermeg L. Akylbekova; Arti Tandon; Nick Patterson; James Mullikin; Wen-Chi Hsueh; Ching-Yu Cheng; Josef Coresh; Eric Boerwinkle; Man Li; Alicja Waliszewska; Julie Neubauer; Rongling Li; Tennille S. Leak; Lynette Ekunwe; Joe C. Files; Cheryl L. Hardy; Joseph M. Zmuda; Herman A. Taylor; Elad Ziv; Tamara B. Harris; James G. Wilson
• Keywords: SNP; Ancestry-informative marker; Genetic genealogy

Persistently low white blood cell count (WBC) and neutrophil 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 WBC between Americans European Americans. To specific genetic change responsible this association, we analyzed genotype phenotype data from 6,005 Jackson Heart Study (JHS), Health, Aging Body Composition (Health ABC) Study, Atherosclerosis Risk Communities (ARIC) Study. demonstrate that causal variant must be at least 91% different frequency West Africans An excellent candidate Duffy Null polymorphism (SNP rs2814778 1q23.2), which only known so differentiated already protect against Plasmodium vivax malaria. confirm predictive above beyond previously described association (P = 3.8×10−5), establishing novel variant.