rs113407698 - BBS9

Magnitude 4.5 · 1 study on file

Reported associations

• Analyses of genome wide association data, cytokines, and gene expression in African-Americans with benign ethnic neutropenia. - PloS one (2018) · Charles BA, Hsieh MM, Adeyemo AA, Shriner D, Ramos E, Chin K, Srivastava K, Zakai NA, Cushman M, McClure LA, Howard V, Flegel WA, Rotimi CN, Rodgers GP · PubMed 29596498

  Benign ethnic neutropenia (BEN) is a hematologic condition associated with people of African ancestry and specific Middle Eastern ethnic groups. Prior genetic association studies in large population showed that rs2814778 in Duffy Antigen Receptor for Chemokines (DARC) gene, specifically DARC null red cell phenotype, was associated with BEN. However, the mechanism of this red cell phenotype leading to low white cell count remained elusive. We conducted an extreme phenotype design genome-wide association study (GWAS), analyzed ~16 million single nucleotide polymorphisms (SNP) in 1,178 African-Americans individuals from the Reasons for Geographic and Racial Differences in Stroke (REGARDS) study and replicated from 819 African-American participants in the Atherosclerosis Risk in Communities (A

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