rs111567318 - MYH8, MYHAS

Magnitude 2.0 · 1 study on file

Reported associations

• Novel exomic rare variants associated with venous thrombosis - Unknown journal (n.d.) · Unknown authors · PubMed 32232851

  ABSTRACT: Exomic rare variant polymorphisms (~300,000) were analyzed in the Scripps Venous Thrombosis (VTE) registry (subjects < 55 years old). Besides F5 SNPs, FAM134B (rs78314670, Arg127Cys) and MYH8 (rs111567318, Glu1838Ala) SNPs were associated with recurrent VTE (N=34 cases) (FDR p<0.05). FAM134B (rs78314670) was associated with low plasma levels of anticoagulant glucosylceramide. Analysis of 50 chr17p13.1 MYH rare SNPs (clustered skeletal myosin heavy chain genes) using collapsing methods was associated with recurrent VTE (p=2.70 x10−16). When injected i.v., skeletal muscle myosin was procoagulant in a hemophilia mouse tail bleeding model. Thus, FAM134B and MYH genetic variants are plausibly linked to VTE risk. FULL TEXT: [INTRO] Introduction [INTRO] Venous thromboembolism (VTE)

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