Expressive

rs116987552 - PYGM

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

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Lifestyle context

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

Bloodwork

  • Serum urate levels Moderate

    PYGM rs116987552 A allele increases serum urate concentration

    Annual serum urate testing

Discuss with your doctor

  • Genetic counseling for PYGM variant High

    PYGM A allele is pathogenic for autosomal recessive glycogen storage disease type V

    • ClinVar:2298

Screening

  • Muscle function assessment for glycogen storage disease type V High

    PYGM A allele is pathogenic for glycogen storage disease type V, affecting muscle glycogen metabolism

    Discuss with physician; formal muscle and metabolic testing if homozygous

    • ClinVar:2298