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Venous Thromboembolism in African Americans

Do genetics predict risk?

Publish date:: February 24, 2016

Novel polymorphisms predominantly found among populations of African descent are associated with both THBD gene expression and with increased risk of venous thromboembolism (VTE) in African Americans (AAs). This according to a genome-wide association study of 578 AA participants followed by replication of highly significant findings in an independent cohort of 159 AA participants. Researchers found:

Single-nucleotide polymorphisms (SNPs) on chromosome 20 (rs2144940, rs2567617, and rs1998081) increased risk of VTE by 2.3 fold.

These risk variants were found in more than 20% of populations of African descent vs < 10% in other ethnic groups.

SNPs on chromosome 20 are cis-eQTLs for thrombomodulin (THBD) and the expression of THBD is lower among patients with VTE vs controls.

Citation: Hernandez W, Gamazon ER, Smithberger E, et al. Novel genetic predictors of venous thromboembolism risk in African Americans. [Published online ahead of print February 17, 2016]. Blood. doi: 10.1182/blood-2015-09-668525.

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