rs115904883 - ASH1L
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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gamma glutamyl transferase (GGT) level Moderate
rs115904883 in ASH1L is strongly associated with elevated gamma glutamyl transferase, reflecting altered hepatic enzyme metabolism
Annual liver function panel including GGT; increase frequency if elevation detected
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serum urate level Moderate
rs115904883 in ASH1L is strongly associated with increased serum urate, a key risk factor for gout and kidney stone formation
Annual serum urate testing; more frequent if symptoms develop or levels elevated
Discuss with your doctor
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urate-lowering intervention strategy Moderate
Elevated serum urate from this variant increases gout risk; early discussion enables preventive management
Discuss baseline urate target and gout prevention at routine appointments