Expressive

rs114812453 - KCNN3 - PMVK

Magnitude 2.2 · 1 study on file

Reported associations

  • Association of SUMOylation Pathway Genes With Stroke in a Genome-Wide Association Study in India. - Neurology (2021) · Kumar A, Chauhan G, Sharma S, Dabla S, Sylaja PN, Chaudhary N, Gupta S, Agrawal CS, Anand KS, Srivastava AK, Vibha D, Sagar R, Raj R, Maheshwari A, Vivekanandhan S, Kaul B, Raghavan S, Gorthi SP, Mohania D, Kaushik S, Yadav RK, Hazarika A, Sharma P, Prasad K · PubMed 34031191

    To undertake a genome-wide association study (GWAS) to identify genetic variants for stroke in an Indian population. In a hospital-based case-control study, 8 teaching hospitals in India recruited 4,088 participants, including 1,609 stroke cases. Imputed genetic variants were tested for association with stroke subtypes using both single-marker and gene-based tests. Association with vascular risk factors was performed with logistic regression. Various databases were searched for replication, functional annotation, and association with related traits. Status of candidate genes previously reported in the Indian population was also checked. Associations of vascular risk factors with stroke were similar to previous reports and show modifiable risk factors such as hypertension, smoking, and alco

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Lifestyle context

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

Screening

  • blood pressure Moderate

    Hypertension is a major modifiable stroke risk factor; KCNN3 involvement in vascular tone regulation suggests blood pressure management relevance

    Establish home BP monitoring routine; maintain systolic <130 mmHg, diastolic <80 mmHg

  • cardiovascular risk assessment with healthcare provider Moderate

    rs114812453 in KCNN3 associates with increased cardioembolic stroke risk; KCNN3 regulates calcium-dependent potassium signaling in cardiac tissue affecting rhythm stability

    Schedule consultation to discuss genetic findings, family history of stroke, and personalized risk assessment

  • electrocardiogram and atrial fibrillation screening Moderate

    Cardioembolic strokes result primarily from cardiac arrhythmias; KCNN3 influences cardiac electrophysiology and stroke susceptibility through arrhythmia pathways

    ECG at baseline visit; Holter or event monitor if clinically indicated