rs114511252 - CLNK

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


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Lifestyle context

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

Bloodwork

  • serum urate level Moderate

    Risk allele A of rs114511252 is associated with elevated serum urate; monitoring enables early intervention

    Check serum urate annually or if gout symptoms develop

Diet

  • excessive alcohol, especially beer Moderate

    Alcohol increases urate production and decreases renal excretion; effect is most pronounced with beer

    Keep daily alcohol consumption to no more than 1 drink; minimize beer consumption

  • limiting purine-rich foods Moderate

    Dietary purines increase serum urate; restriction helps manage genetic predisposition to elevated urate

    Limit red meat, organ meats, and high-purine seafood (anchovies, shellfish) to 2-3 times weekly

Lifestyle

  • adequate daily hydration Moderate

    Increased fluid intake increases urine volume and promotes renal urate excretion

    Drink at least 2-3 liters of water daily; adjust for climate and activity level