rs114102448 - COL6A2

Magnitude 2.2 · 1 study on file

Reported associations

  • Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors - Unknown journal (n.d.) · Unknown authors · PubMed 36154123

    ABSTRACT: Background: Venous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30,000 VTE cases and identified up to 40 genetic loci associated with VTE risk, including loci not previously suspected to play a role in hemostasis. The aims of our research were to expand discovery of new genetic loci associated with VTE by using cross-ancestry genomic resources. Methods: We present new cross-ancestry meta-analyzed GWAS results involving up to 81,669 VTE cases from 30 studies, with replication of novel loci in independent populations and loci characterization through in silico genomic interrogations. Results: In our genetic discovery effort that included 55,330


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Lifestyle context

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

Discuss with your doctor

  • genetic predisposition to venous thromboembolism Moderate

    rs114102448 confers increased venous thromboembolism risk and warrants clinical evaluation for thrombosis prevention.

Exercise

  • frequent leg movement and aerobic activity Moderate

    Regular physical activity reduces venous stasis and has well-established benefit in VTE prevention.

    Aim for at least 150 minutes moderate-intensity aerobic activity weekly, avoid sedentary periods exceeding 2 hours

Screening

  • symptoms of venous thromboembolism Moderate

    Early symptom recognition (leg swelling, calf pain, chest pain, dyspnea) enables prompt intervention in genetically predisposed individuals.

    Seek immediate medical evaluation for sudden leg swelling, calf pain, chest pain, or shortness of breath