Expressive

rs12443147 - RN7SL354P - SPPL2A

Magnitude 2.2 · 1 study on file

Reported associations

  • 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 levels Moderate

    rs12443147 T-allele is associated with higher serum urate levels; elevated urate increases gout and kidney stone risk

    baseline serum urate test; repeat annually or if symptoms develop

Diet

  • moderate high-purine food intake Moderate

    purine-rich foods are metabolized to uric acid; reducing intake lowers serum urate

    limit red meat, organ meats, high-purine seafood, alcohol; consider reducing fructose-sweetened drinks

Lifestyle

  • consistent hydration Moderate

    increased fluid intake promotes uric acid excretion and reduces crystallization risk

    8-10 glasses water daily

Screening

  • gout symptoms and family history Moderate

    rs12443147 increases serum urate, predisposing to gout; family history amplifies risk

    review family history of gout; report joint pain or crystal-related symptoms to physician