Expressive

rs12364994 - KMT5B - C11orf24

Magnitude 2.2 · 1 study on file

Reported associations

  • Large-scale cross-ancestry genome-wide meta-analysis of serum urate - Unknown journal (n.d.) · Unknown authors · PubMed 38658550

    ABSTRACT: Hyperuricemia is an essential causal risk factor for gout and is associated with cardiometabolic diseases. Given the limited contribution of East Asian ancestry to genome-wide association studies of serum urate, the genetic architecture of serum urate requires exploration. A large-scale cross-ancestry genome-wide association meta-analysis of 1,029,323 individuals and ancestry-specific meta-analysis identifies a total of 351 loci, including 17 previously unreported loci. The genetic architecture of serum urate control is similar between European and East Asian populations. A transcriptome-wide association study, enrichment analysis, and colocalization analysis in relevant tissues identify candidate serum urate-associated genes, including CTBP1, SKIV2L, and WWP2. A phenome-wide ass

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Lifestyle context

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

Diet

  • high-purine foods Moderate

    Purines metabolize to uric acid; reducing dietary purine intake lowers serum urate levels

    Limit organ meats, red meat, anchovies, and shellfish to once or twice weekly

    • GWAS_CATALOG:38658550

Discuss with your doctor

  • urate management plan Moderate

    Elevated serum urate due to genetic predisposition may require physician-guided management beyond lifestyle modifications

    If serum urate exceeds 6.8 mg/dL despite lifestyle changes, discuss further management options

    • GWAS_CATALOG:38658550

Lifestyle

  • adequate hydration Moderate

    Increased water intake promotes urinary urate excretion and reduces serum urate concentration

    Drink 2-3 liters of water daily; increase intake during exercise or warm weather

    • GWAS_CATALOG:38658550

Screening

  • serum urate levels Moderate

    rs12364994 A-allele associated with elevated serum urate; elevated urate increases gout and cardiovascular disease risk

    Measure serum urate annually; report levels above 6.8 mg/dL to physician

    • GWAS_CATALOG:38658550