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: Tags: Original Article Source Type: research

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Abstract
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