rs11523133 - SLC2A6 - MYMK
Magnitude 2.2 · 1 study on file
Reported associations
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Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk - Unknown journal (n.d.) · Unknown authors · PubMed 41419685
ABSTRACT: The genetic influences on normal aortic valve function and their impact on aortic stenosis risk are of substantial interest. We used deep learning to measure peak velocity, mean gradient and aortic valve area from magnetic resonance imaging and conducted genome-wide association studies (GWAS) in 59,571 participants in the UK Biobank. Incorporating the aortic valve measurement GWAS with aortic stenosis GWAS using multitrait analysis of GWAS (MTAG), we identified 166 distinct loci (134 with aortic valve traits, 134 with aortic stenosis and 166 unique loci across all GWAS), including PCSK9 and LDLR. The MTAG aortic stenosis PGS was associated with aortic stenosis in All of Us (hazard ratio (HR) = 3.32 for top 5% versus all others, P = 8.8 × 10−22) and Mass General Bri
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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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Aortic stenosis risk and genetic findings Moderate
rs11523133 shows genome-wide significant association with aortic stenosis; relevant for healthcare planning
Bring genetic findings to physician; discuss baseline cardiac assessment and family history
Screening
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Baseline echocardiography screening Moderate
G allele at rs11523133 is associated with increased aortic stenosis risk in large cohort studies
Discuss with cardiologist about baseline echocardiography; establish monitoring plan as indicated