Expressive

rs117897057 - MAP3K11

Magnitude 2.2 · 3 studies 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

  • A genome-wide study on gene-nutrient interactions for hyperuricemia in a large Korean cohort (KoGES) - Unknown journal (n.d.) · Unknown authors · PubMed 40835619

    ABSTRACT: This study aimed to identify novel genetic variants associated with hyperuricemia risk across multiple nutrients by assessing significant gene-nutrient interactions using large-scale genome-wide association study (GWAS) data in the Korean population. A total of 48,007 individuals from the Korean Genome and Epidemiology Study dataset were included in the GWAS. Dietary intake was evaluated using a food frequency questionnaire. To identify genomic loci that interact with specific nutrients influencing hyperuricemia risk, we conducted a GWAS followed by gene-nutrient interaction analyses of genome-wide significant single-nucleotide polymorphisms (SNPs). Two SNPs with significant gene-nutrient interactions for specific nutrients were identified: rs113206751 in the Membrane-Assoc

  • Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals - Unknown journal (n.d.) · Unknown authors · PubMed 32514006

    ABSTRACT: Increased serum uric acid (SUA) levels cause gout and are associated with multiple diseases, including chronic kidney disease. Previous genome-wide association studies (GWAS) have identified more than 180 loci that contribute to SUA levels. Here, we investigated genetic determinants of SUA level in the Korean population. We conducted a GWAS for SUA in 6,881 Korean individuals, calculated polygenic risk scores (PRSs) for common variants, and validated the association of low-frequency variants and PRS with SUA levels in 3,194 individuals. We identified two low-frequency and six common independent variants associated with SUA. Despite the overall similar effect sizes of variants in Korean and European populations, the proportion of variance for SUA levels explained by the variants w

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