Effects of multiple genetic loci on the pathogenesis from serum urate to gout

Sci Rep. 2017 Mar 2:7:43614. doi: 10.1038/srep43614.


Gout is a common arthritis resulting from increased serum urate, and many loci have been identified that are associated with serum urate and gout. However, their influence on the progression from elevated serum urate levels to gout is unclear. This study aims to explore systematically the effects of genetic variants on the pathogenesis in approximately 5,000 Chinese individuals. Six genes (PDZK1, GCKR, TRIM46, HNF4G, SLC17A1, LRRC16A) were determined to be associated with serum urate (PFDR < 0.05) in the Chinese population for the first time. ABCG2 and a novel gene, SLC17A4, contributed to the development of gout from hyperuricemia (OR = 1.56, PFDR = 3.68E-09; OR = 1.27, PFDR = 0.013, respectively). Also, HNF4G is a novel gene associated with susceptibility to gout (OR = 1.28, PFDR = 1.08E-03). In addition, A1CF and TRIM46 were identified as associated with gout in the Chinese population for the first time (PFDR < 0.05). The present study systematically determined genetic effects on the progression from elevated serum urate to gout and suggests that urate-associated genes functioning as urate transporters may play a specific role in the pathogenesis of gout. Furthermore, two novel gout-associated genes (HNF4G and SLC17A4) were identified.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Case-Control Studies
  • Disease Progression
  • Female
  • Gene Expression
  • Genetic Association Studies*
  • Genetic Loci*
  • Genetic Predisposition to Disease*
  • Genotype
  • Gout / blood*
  • Gout / genetics*
  • Humans
  • Hyperuricemia / blood
  • Hyperuricemia / genetics
  • Male
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Sex Factors
  • Uric Acid / blood*


  • Uric Acid