Expressive

rs118038492 - PYGM

Magnitude 2.2 · 2 studies on file

Reported associations

  • A scalable variational inference approach for increased mixed-model association power - Unknown journal (n.d.) · Unknown authors · PubMed 39789286

    ABSTRACT: The rapid growth of modern biobanks is creating new opportunities for large-scale genome-wide association studies (GWASs) and the analysis of complex traits. However, performing GWASs on millions of samples often leads to trade-offs between computational efficiency and statistical power, reducing the benefits of large-scale data collection efforts. We developed Quickdraws, a method that increases association power in quantitative and binary traits without sacrificing computational efficiency, leveraging a spike-and-slab prior on variant effects, stochastic variational inference and graphics processing unit acceleration. We applied Quickdraws to 79 quantitative and 50 binary traits in 405,088 UK Biobank samples, identifying 4.97% and 3.25% more associations than REGENIE and 22.71%

  • Genetics of 35 blood and urine biomarkers in the UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 33462484

    ABSTRACT: Clinical laboratory tests are a critical component of the continuum of care. We evaluate the genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n=363,228 individuals). We identify 1,857 loci associated with at least one trait, containing 3,374 fine-mapped associations, and additional sets of large-effect (> 0.1 sd) protein-altering, HLA, and copy-number variant associations. Through Mendelian Randomization analysis, we discover 51 causal relationships, including previously known agonistic effects of urate on gout and cystatin C on stroke. Finally, we develop polygenic risk scores for each biomarker and built 'multi-PRS' models for diseases using 35 PRSs simultaneously, which improved chronic kidney disease, type 2 diabetes, gout, and alcoholic cirr

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

  • Serum urate concentration Moderate

    PYGM rs118038492 is associated with higher serum urate levels; baseline measurement helps determine if preventive measures are needed

    Baseline serum urate test, then annually if normal

Diet

  • High-fructose foods and beverages Moderate

    High fructose intake increases urate synthesis via purine metabolism; exacerbates genetic predisposition to elevated urate

    Minimize sugary drinks, limit honey and high-fructose fruits

  • Limit alcohol, especially beer Moderate

    Alcohol impairs urate excretion; beer also contains purines; both increase gout risk in people with genetic urate elevation

    Limit to no more than 1-2 drinks per day; minimize beer

  • Reduce high-purine animal products Moderate

    Dietary purines increase urate production; this SNP elevates baseline urate, making excess purine intake higher risk for hyperuricemia

    Limit red meat, organ meats, high-purine fish (sardines, anchovies) to 1-2x weekly

Discuss with your doctor

  • Baseline urate management strategy and gout prevention Moderate

    Genetic predisposition to elevated urate warrants clinical assessment and personalized risk stratification

Lifestyle

  • Adequate daily hydration Moderate

    Increased water intake enhances renal urate clearance; compensates for genetic predisposition to elevated urate

    Drink 2-3 liters of water daily, more if exercising or in hot climate