Genome-wide Association Analyses Identify 18 New Loci Associated With Serum Urate

Online material

Abstract: Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 European-ancestry individuals within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate (18 novel regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B/ACVRL1, and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry. Detailed characterization of the loci revealed associations with gout, with transcript expression and the fractional excretion of urate. Network analyses implicate the inhibins-activins signaling pathways and glucose metabolism in systemic urate control. Novel candidates identified in this screen highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout.

Link to the original publication

On this webpage, we provide further functional evidence of protein interactions and metabolic reactions around the 37 urate seed genes identified in our study.

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Summary statistics from meta-analyses of serum urate and gout
  • README file with descriptions for the summary statistics files (download)
  • Meta-analysis results for serum urate (download)
  • Meta-analysis results for gout (download)


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