Expressive

rs113704612 - CYTIP

Magnitude 2.2 · 2 studies on file

Reported associations

  • Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels - Unknown journal (n.d.) · Unknown authors · PubMed 31578528

    ABSTRACT: Elevated serum urate levels cause gout and correlate with cardio-metabolic diseases via poorly understood mechanisms. We performed a trans-ethnic genome-wide association study of serum urate among 457,690 individuals, identifying 183 loci (147 novel) that improve prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardio-metabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci, and co-localization with gene expression in 47 tissues implicated kidney and liver as main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in liver and kidney, HNF1

  • 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.

Bloodwork

  • serum urate levels High

    T allele carriers have elevated baseline urate; regular monitoring detects hyperuricemia early

    check serum urate annually or per physician recommendation

Diet

  • high-purine foods Moderate

    T allele carriers have elevated urate; limiting dietary purines reduces substrate for uric acid synthesis

    minimize organ meats, red meat, shellfish, and beer consumption

Discuss with your doctor

  • urate-lowering therapy and gout prevention strategies Moderate

    T allele carriers have genetic predisposition to elevated urate; physician guidance determines treatment thresholds and prevention

Lifestyle

  • body weight and hydration status Moderate

    Weight management and hydration reduce urate levels and gout risk in carriers with elevated baseline urate

    maintain healthy BMI; consume 2-3 liters water daily