Population ‐specific single‐nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans
ConclusionsWe found a variant, PROS1 V510M, in an African American family with VTE and clinical laboratory abnormalities in Protein S. Additionally, we found that this variant conferred increased risk of VTE in a case–control study of African Americans. In the ESP cohort, the variant is nearly absent in ESP European descent subjects (n = 3, allele frequency: 0.03%). Additionally, in 1000 Genomes Phase 3 data, the variant only appears in African descent populations. Thus, PROS1 V510M is a population‐specific genetic risk factor for VTE in African Americans.
We identified a novel association between a mutation in Protein S and venous thromboembolism in an African American family. We then demonstrated that this mutation is a population‐specific risk factor for venous thromboembolism in African Americans.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Roxana Daneshjou, Larisa H. Cavallari, Peter E. Weeke, Konrad J. Karczewski, Katarzyna Drozda, Minoli A. Perera, Julie A. Johnson, Teri E. Klein, Carlos D. Bustamante, Dan M. Roden, Christian Shaffer, Joshua C. Denny, James L. Zehnder, Russ B. Altman Tags: Original Article Source Type: research