Roxana Daneshjou, along with co-authors Teri Klein and Russ Altman of PharmGKB, have published a paper describing a previously uncharacterized SNP in the Protein S (PROS1) gene that increases risk of venous thromboembolism (VTE). VTE is more common in African American populations than in populations of European descent, yet the genetic risk factors identified previously are found predominantly in European populations. The V510M (rs138925964) variant in PROS1 described in Daneshjou, et al. was validated in a multi-center cohort and is expected to have a damaging effect on protein S function. This SNP was found at about 1% in populations of African descent but was found rarely in populations of European descent and is expected to confer an odds ratio of 4.61 (95% CI = 1.51- 15.20) for VTE. This finding highlights the importance of including diverse populations in genetic research.
A video describing the study and findings can be found on Wiley's Youtube Channel and on the Molecular Genetics and Genomic Medicine website.