rs113846542 - PRKG1

Magnitude 4.5 · 1 study on file

Reported associations

  • Molecular determinants of thrombosis recurrence risk across venous thromboembolism subtypes. - Blood (2025) · Munsch G, Thibord F, Bezerra OC, Brody JA, van Hylckama Vlieg A, Gourhant L, Chen MH, Samaria F, Germain M, Caro I, Suchon P, Olaso R, Wiggins KL, Saut N, Besse C, Goumidi L, Bacq D, Harrington LB, Boland A, Emmerich J, Smadja DM, Lemarié CA, Danckwardt S, Debette S, Deleuze JF, Jacqmin-Gadda H, Rodger MA, Gagnon F, Rosendaal FR, Johnson AD, Smith NL, Couturaud F, Morange PE, Trégouët DA · PubMed 40811855

    Venous thromboembolism (VTE) is a frequent (annual incidence of 1-2 per 1000 individuals) and potentially life-threatening (case-fatality rate up to 10%) disease. VTE is associated with serious short-term and long-term complications, including a recurrence rate approaching 20% within 5 years. Anticoagulant therapy, the mainstay of VTE treatment, drastically reduces the risk of early VTE recurrence, but it exposes patients to a substantial risk of bleeding. We analyzed the genomic architecture of VTE recurrence using data from 6355 patients across 8 cohorts (including 1775 recurrences), enriched by subgroup analyses, according to sex and clinical manifestation of first VTE, which led to the identification of 28 molecular markers. Through genome-wide association studies, we identified 1 locu


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • PRKG1 rs113846542 variant and thrombosis risk High

    T allele at rs113846542 is associated with 3.6-fold increased VTE recurrence risk in provoked thromboembolism, reflecting altered PRKG1-mediated vascular homeostasis.

Lifestyle

  • Prolonged immobility Moderate

    PRKG1 rs113846542 risk allele impairs vascular thrombotic control; immobility compounds blood stasis and VTE risk.

    Move every 1-2 hours during travel; avoid prolonged bed rest after surgery; elevate legs when seated.

Screening

  • VTE symptoms and warning signs Moderate

    PRKG1 rs113846542 risk allele impairs vascular thrombotic control; prompt symptom recognition enables early intervention.

    Seek immediate care for leg swelling, calf pain, chest pain, or dyspnea.