Expressive

rs10086575 - EBF2

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction - Unknown journal (n.d.) · Unknown authors · PubMed 41419686

    ABSTRACT: Aortic stenosis (AS) is a common valvular heart disease and has no pharmacological therapies. We performed a multi-ancestry genome-wide association meta-analysis of 86,864 AS cases among 2,853,408 individuals, discovering 241 autosomal independent risk loci and 3 X chromosome risk loci. We additionally performed sex-stratified and ancestry-stratified genome-wide association studies (GWASs), identifying an additional 5 sex-specific risk loci, 11 risk loci in European ancestry individuals and 1 risk locus in African ancestry individuals. We also performed a transcriptome-wide association study using expression quantitative trait loci from human aortic valves, discovering 54 new genes for which genetically predicted expression influences the risk of AS. We then generated a new polyg

  • Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots - Unknown journal (n.d.) · Unknown authors · PubMed 35773277

    ABSTRACT: For any given level of overall adiposity, individuals vary considerably in fat distribution. The inherited basis of fat distribution in the general population is not fully understood. Here, we study up to 38,965 UK Biobank participants with MRI-derived visceral (VAT), abdominal subcutaneous (ASAT), and gluteofemoral (GFAT) adipose tissue volumes. Because these fat depot volumes are highly correlated with BMI, we additionally study six local adiposity traits: VAT adjusted for BMI and height (VATadj), ASATadj, GFATadj, VAT/ASAT, VAT/GFAT, and ASAT/GFAT. We identify 250 independent common variants (39 newly-identified) associated with at least one trait, with many associations more pronounced in female participants. Rare variant association studies extend prior evidence for PDE3B as

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Lifestyle context

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

Bloodwork

  • Metabolic markers for visceral adiposity consequences Moderate

    Variant increases visceral fat deposition, which associates with dyslipidemia and glucose dysregulation

    Annual lipid panel and fasting glucose; more frequent if abnormal

Exercise

  • Aerobic exercise to reduce visceral adiposity risk Moderate

    Variant associated with greater visceral adipose deposition; aerobic exercise preferentially reduces visceral fat stores

    150+ minutes moderate-intensity aerobic exercise weekly

Screening

  • Aortic stenosis screening with echocardiography Moderate

    Genetic variant significantly increases risk of aortic valve stenosis development

    Baseline echocardiogram by age 50; repeat every 3-5 years if normal