Expressive

rs1062062 - TBC1D8, RPL31

Magnitude 2.2 · 2 studies on file

Reported associations

  • Exome-wide association study of plasma lipids in >300,000 individuals - Unknown journal (n.d.) · Unknown authors · PubMed 29083408

    ABSTRACT: We screened DNA sequence variants on an exome-focused genotyping array in >300,000 participants with replication in >280,000 participants and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice revealed lipid changes consistent with the human data. We utilized mapped variants to address four clinically relevant questions and found the following: (1) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease; (2) outside of the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-r

  • Urate, Blood Pressure, and Cardiovascular Disease - Unknown journal (n.d.) · Unknown authors · PubMed 33356394

    ABSTRACT: Supplemental Digital Content is available in the text. Serum urate has been implicated in hypertension and cardiovascular disease, but it is not known whether it is exerting a causal effect. To investigate this, we performed Mendelian randomization analysis using data from UK Biobank, Million Veterans Program and genome-wide association study consortia, and meta-analysis of randomized controlled trials. The main Mendelian randomization analyses showed that every 1-SD increase in genetically predicted serum urate was associated with an increased risk of coronary heart disease (odds ratio, 1.19 [95% CI, 1.10-1.30]; P=4×10−5), peripheral artery disease (1.12 [95% CI, 1.03-1.21]; P=9×10−3), and stroke (1.11 [95% CI, 1.05-1.18]; P=2×10−4). In Mendelian randomization med

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Lifestyle context

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

Bloodwork

  • serum uric acid level High

    T allele at rs1062062 is significantly associated with elevated uric acid levels, increasing risk for gout and metabolic syndrome

    Annual screening; more frequently if personal history of gout or recurrent kidney stones

Diet

  • reduce high-purine foods and high-fructose beverages Moderate

    Dietary purines metabolize to uric acid; high-fructose intake increases hepatic urate synthesis; dietary modification addresses genetic elevation

    Limit red meat to less than twice weekly, avoid organ meats and shellfish, minimize sugary beverages and high-fructose corn syrup

Exercise

  • regular aerobic exercise Moderate

    Aerobic activity reduces serum uric acid levels and supports metabolic health in carriers of elevated-urate alleles

    150 minutes per week of moderate-intensity aerobic exercise, spread across at least 3 days

Lifestyle

  • maintain adequate daily hydration Moderate

    Increased fluid intake enhances renal excretion of uric acid, helping manage genetically elevated urate

    Drink 8-10 glasses of water daily; increase intake if in hot climate or during exercise

  • maintain healthy body weight Moderate

    Obesity and weight gain increase uric acid production and reduce renal excretion

    Maintain BMI 18.5-24.9 kg/m2; pursue gradual weight loss if overweight