rs11571171 - PGR
Magnitude 2.2 · 1 study on file
Reported associations
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Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy - Unknown journal (n.d.) · Unknown authors · PubMed 39966646
ABSTRACT: Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality with both monogenic and polygenic components. Here, we report results from a large genome-wide association study and multitrait analysis including 5,900 HCM cases, 68,359 controls and 36,083 UK Biobank participants with cardiac magnetic resonance imaging. We identified 70 loci (50 novel) associated with HCM and 62 loci (20 novel) associated with relevant left ventricular traits. Among the prioritized genes in the HCM loci, we identify a novel HCM disease gene, SVIL, which encodes the actin-binding protein supervillin, showing that rare truncating SVIL variants confer a roughly tenfold increased risk of HCM. Mendelian randomization analyses support a causal role of increased left ventricular contrac
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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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Genetic risk for hypertrophic cardiomyopathy Moderate
rs11571171 is significantly associated with HCM susceptibility via altered PGR expression in arterial tissue
Screening
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Hypertrophic cardiomyopathy genetic screening Moderate
rs11571171 A-allele is associated with increased hypertrophic cardiomyopathy risk in a large multi-ethnic cohort
Discuss baseline cardiac assessment with cardiologist, including echocardiography if indicated