rs114756544 - SLC2A9
Magnitude 2.2 · 1 study on file
Reported associations
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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
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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
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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
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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