Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene.
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 Europ...
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Public Library of Science (PLoS)
2009-01-01
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| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000360&type=printable |
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| author | 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 |
| author_facet | 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 |
| author_sort | David Reich |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-df7218b1d7584f71bad5d9b1c81bd99a |
| institution | OA Journals |
| issn | 1553-7390 1553-7404 |
| language | English |
| publishDate | 2009-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj-art-df7218b1d7584f71bad5d9b1c81bd99a2025-08-20T02:17:24ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042009-01-0151e100036010.1371/journal.pgen.1000360Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene.David ReichMichael A NallsW H Linda KaoErmeg L AkylbekovaArti TandonNick PattersonJames MullikinWen-Chi HsuehChing-Yu ChengJosef CoreshEric BoerwinkleMan LiAlicja WaliszewskaJulie NeubauerRongling LiTennille S LeakLynette EkunweJoe C FilesCheryl L HardyJoseph M ZmudaHerman A TaylorElad ZivTamara B HarrisJames G WilsonPersistently 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.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000360&type=printable |
| spellingShingle | 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 Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. PLoS Genetics |
| title | Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. |
| title_full | Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. |
| title_fullStr | Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. |
| title_full_unstemmed | Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. |
| title_short | Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. |
| title_sort | reduced neutrophil count in people of african descent is due to a regulatory variant in the duffy antigen receptor for chemokines gene |
| url | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000360&type=printable |
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