Expressive

rs10799848 - UAP1 - DDR2

Magnitude 2.2 · 1 study on file

Reported associations

  • A genome-wide association analysis reveals new pathogenic pathways in gout. - Nature genetics (2024) · Major TJ, Takei R, Matsuo H, Leask MP, Sumpter NA, Topless RK, Shirai Y, Wang W, Cadzow MJ, Phipps-Green AJ, Li Z, Ji A, Merriman ME, Morice E, Kelley EE, Wei WH, McCormick SPA, Bixley MJ, Reynolds RJ, Saag KG, Fadason T, Golovina E, O'Sullivan JM, Stamp LK, Dalbeth N, Abhishek A, Doherty M, Roddy E, Jacobsson LTH, Kapetanovic MC, Melander O, Andrés M, Pérez-Ruiz F, Torres RJ, Radstake T, Jansen TL, Janssen M, Joosten LAB, Liu R, Gaal OI, Crişan TO, Rednic S, Kurreeman F, Huizinga TWJ, Toes R, Lioté F, Richette P, Bardin T, Ea HK, Pascart T, McCarthy GM, Helbert L, Stibůrková B, Tausche AK, Uhlig T, Vitart V, Boutin TS, Hayward C, Riches PL, Ralston SH, Campbell A, MacDonald TM, Nakayama A, Takada T, Nakatochi M, Shimizu S, Kawamura Y, Toyoda Y, Nakaoka H, Yamamoto K, Matsuo K, Shinomiya N, Ichida K, Lee C, Bradbury LA, Brown MA, Robinson PC, Buchanan RRC, Hill CL, Lester S, Smith MD, Rischmueller M, Choi HK, Stahl EA, Miner JN, Solomon DH, Cui J, Giacomini KM, Brackman DJ, Jorgenson EM, Liu H, Susztak K, Shringarpure S, So A, Okada Y, Li C, Shi Y, Merriman TR · PubMed 39406924

    Gout is a chronic disease that is caused by an innate immune response to deposited monosodium urate crystals in the setting of hyperuricemia. Here, we provide insights into the molecular mechanism of the poorly understood inflammatory component of gout from a genome-wide association study (GWAS) of 2.6 million people, including 120,295 people with prevalent gout. We detected 377 loci and 410 genetically independent signals (149 previously unreported loci in urate and gout). An additional 65 loci with signals in urate (from a GWAS of 630,117 individuals) but not gout were identified. A prioritization scheme identified candidate genes in the inflammatory process of gout, including genes involved in epigenetic remodeling, cell osmolarity and regulation of NOD-like receptor protein 3 (NLRP3) i

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

  • alcohol, especially beer Moderate

    Alcohol impairs renal uric acid excretion; beer adds purine load

    eliminate or limit to 1-2 drinks per week

  • high-fructose beverages and sweetened foods Moderate

    Fructose increases hepatic uric acid production and impairs renal urate excretion

    eliminate sugary sodas, juices, and sweetened beverages

  • high-purine foods (red meat, organ meats, anchovies) Moderate

    High-purine foods increase uric acid production, which triggers gout in genetically predisposed individuals

    limit to 1-2 servings per week or eliminate

Discuss with your doctor

  • gout prevention strategy and medication options Moderate

    Genetic predisposition to gout may warrant prophylactic uric acid lowering therapy

Lifestyle

  • adequate hydration Moderate

    Increased water intake dilutes uric acid and promotes renal excretion

    2-3 liters per day

  • weight management to healthy BMI Moderate

    Obesity increases uric acid production and reduces renal excretion

    target BMI 18.5-24.9 kg/m2

Screening

  • serum uric acid levels Moderate

    Uric acid >6 mg/dL directly predicts gout occurrence in genetically predisposed individuals

    baseline screening, then annually or as symptoms develop