Expressive

rs10942549 - TMEM171

Magnitude 2.2 · 2 studies on file

Reported associations

  • Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449

    ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp

  • 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

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

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

Diet

  • high alcohol intake Moderate

    Alcohol impairs renal uric acid excretion and increases crystallization risk

    Limit to <=2 drinks per day; minimize beer consumption

  • high-purine foods Moderate

    Purine metabolism generates uric acid; dietary purines increase risk in G allele carriers

    Limit organ meats, red meat, shellfish, high-fructose corn syrup

Discuss with your doctor

  • gout prophylaxis and urate-lowering therapy Moderate

    Genetic predisposition to gout may warrant preemptive treatment to prevent acute attacks

    Discuss allopurinol, febuxostat, or other urate-lowering agents

Lifestyle

  • adequate daily hydration Moderate

    Urine dilution reduces uric acid concentration and crystallization risk

    Drink 2-3 liters of water daily

Screening

  • serum uric acid screening Moderate

    G allele increases gout risk via uric acid accumulation

    Obtain baseline serum uric acid; monitor annually if elevated (target <6 mg/dL)