Expressive

rs12299450 - TXNRD1, TXNRD1-AS1

Magnitude 2.2 · 1 study 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

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

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

Discuss with your doctor

  • HCM genetic risk and monitoring plan Moderate

    Genetic variant associated with increased HCM susceptibility requires professional evaluation for appropriate risk assessment and management.

    Schedule cardiology consultation to discuss genetic risk, appropriate screening, and family implications.

Lifestyle

  • diastolic blood pressure High

    Mendelian randomization shows diastolic BP is substantial modifiable HCM risk factor; 11.3 mmHg increase confers approximately 4-fold increased HCM risk.

    Maintain diastolic BP below 80 mmHg; work with physician on hypertension management strategy.

  • maintain healthy weight Moderate

    Mendelian randomization indicates obesity is causally associated with HCM risk; weight management is important for genetically susceptible individuals.

    Aim for BMI 18.5-24.9; discuss weight management strategies with physician.

Screening

  • cardiac imaging for hypertrophic cardiomyopathy Moderate

    Genetic variant rs12299450 is genome-wide significantly associated with sarcomere-positive HCM; carriers have increased disease susceptibility.

    Discuss screening approach and timeline with cardiologist; may include echocardiography or cardiac MRI.