rs114756544 - SLC2A9

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 level High

    SLC2A9 rs114756544 T allele is associated with significantly elevated serum urate; baseline and periodic assessment establishes risk trajectory

    Baseline measurement, then annually or as clinician recommends

Discuss with your doctor

  • proactive urate management strategy Moderate

    Genetic predisposition to elevated urate warrants clinical review to prevent progression to hyperuricemia and gout

    Discuss lifestyle vs. pharmacologic management based on urate level, gout history, and comorbidities

Screening

  • gout symptoms and flares Moderate

    Elevated urate levels increase risk for acute gout attacks; early detection enables prompt treatment

    Alert healthcare provider to sudden joint pain, swelling, or warmth, particularly in lower extremities