Expressive

rs111555687 - MTND5P42 - LINC00865

Magnitude 2.2 · 2 studies on file

Reported associations

  • 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

  • Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass - Unknown journal (n.d.) · Unknown authors · PubMed 36944631

    ABSTRACT: Left ventricular mass is a risk marker for cardiovascular events, and may indicate an underlying cardiomyopathy. Cardiac magnetic resonance is the gold-standard for left ventricular mass estimation, but is challenging to obtain at scale. Here, we use deep learning to enable genome-wide association study of cardiac magnetic resonance-derived left ventricular mass indexed to body surface area within 43,230 UK Biobank participants. We identify 12 genome-wide associations (1 known at TTN and 11 novel for left ventricular mass), implicating genes previously associated with cardiac contractility and cardiomyopathy. Cardiac magnetic resonance-derived indexed left ventricular mass is associated with incident dilated and hypertrophic cardiomyopathies, and implantable cardioverter-defibril

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.

Bloodwork

  • Regular blood pressure monitoring Moderate

    Hypertension is the primary modifiable risk factor for left ventricular mass progression

    Annual blood pressure check minimum, more frequent if elevated or on treatment

Exercise

  • Regular aerobic exercise to maintain cardiac function Moderate

    Aerobic exercise prevents pathological left ventricular mass increases and improves cardiac adaptation

    150 minutes per week moderate-intensity or 75 minutes per week vigorous aerobic exercise

Screening

  • Baseline echocardiography to assess left ventricular mass Moderate

    T allele carriers have genetic predisposition to higher left ventricular mass, a marker of cardiac strain

    Baseline echocardiogram, then periodic assessment per cardiologist guidance