rs10406522 - DOCK6
Magnitude 2.2 · 1 study on file
Reported associations
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Genome-wide analysis yields new loci associating with aortic valve stenosis - Unknown journal (n.d.) · Unknown authors · PubMed 29511194
ABSTRACT: Aortic valve stenosis (AS) is the most common valvular heart disease, and valve replacement is the only definitive treatment. Here we report a large genome-wide association (GWA) study of 2,457 Icelandic AS cases and 349,342 controls with a follow-up in up to 4,850 cases and 451,731 controls of European ancestry. We identify two new AS loci, on chromosome 1p21 near PALMD (rs7543130; odds ratio (OR) = 1.20, P = 1.2 × 10−22) and on chromosome 2q22 in TEX41 (rs1830321; OR = 1.15, P = 1.8 × 10−13). Rs7543130 also associates with bicuspid aortic valve (BAV) (OR = 1.28, P = 6.6 × 10−10) and aortic root diameter (P = 1.30 × 10−8), and rs1830321 associates with BAV (OR = 1.12, P = 5.3 × 10−3) and coronary artery disea
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Discuss aortic valve stenosis risk with cardiologist Moderate
rs10406522 is associated with 1.11-fold increased aortic valve stenosis risk; provider can contextualize with clinical assessment and develop personalized strategy.
Screening
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Aortic valve echocardiography screening Moderate
Early detection of aortic valve stenosis enables monitoring progression and planning intervention before symptomatic disease.
Discuss timing with cardiologist; typical baseline screening in 30s-40s or earlier if family history present.