Expressive

rs1048302 - HSPB7

Magnitude 2.2 · 2 studies on file

Reported associations

  • Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity - Unknown journal (n.d.) · Unknown authors · PubMed 33495597

    ABSTRACT: Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic heterogeneity. Moreover, most patients do not carry such variants. We report a genome-wide association study of 2,780 cases and 47,486 controls that identified 12 genome-wide-significant susceptibility loci for HCM. Single-nucleotide polymorphism heritability indicated a strong polygenic influence, especially for sarcomere-negative HCM (64% of cases; h2g = 0.34 ± 0.02). A genetic risk score showed substantial influence on the odds of HCM in a validation study, halving the odds in the lowest quintile and doubling them in the highest quintile, and also influenced phenotypic severity in sarcomere variant carriers. Men

  • 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.

Exercise

  • Exercise recommendations with cardiologist Moderate

    HCM is associated with increased risk of arrhythmia and sudden cardiac death during strenuous activity

    Before starting vigorous exercise, discuss safe activity limits with cardiologist

Lifestyle

  • Regular blood pressure monitoring and control Moderate

    Mendelian randomization shows blood pressure is causally associated with HCM risk; BP control may slow disease progression

    Monitor BP regularly; target <130/80 mmHg if HCM is confirmed

Screening

  • Cardiac screening for hypertrophic cardiomyopathy High

    This variant is strongly associated with HCM risk (p=8.0e-30); echocardiography can identify subclinical disease

    Obtain baseline echocardiogram and ECG; follow cardiologist advice on repeat interval