Common UCP2 variants contribute to serum urate concentrations and the risk of hyperuricemia

Sci Rep. 2016 Jun 8:6:27279. doi: 10.1038/srep27279.

Abstract

Elevated serum urate, which is regulated at multiple levels including genetic variants, is a risk factor for gout and other metabolic diseases. This study aimed to investigate the association between UCP2 variants and serum urate as well as hyperuricemia in a Chinese population. In total, 4332 individuals were genotyped for two common UCP2 variants, -866G/A and Ala55Val. These loci were not associated either serum urate level or with a risk of hyperuricemia in the total group of subjects. However, in females, -866G/A and Ala55Val were associated with a lower serum urate (P = 0.006 and 0.014, seperately) and played a protective role against hyperuricemia (OR = 0.80, P = 0.018; OR = 0.79, P = 0.016). These associations were not observed in the males. After further stratification, the two loci were associated with serum urate in overweight, but not underweight females. The haplotype A-T (-866G/A-Ala55Val) was a protective factor for hyperuricemia in the female subgroup (OR = 0.80, P = 0.017). This present study identified a novel gene, UCP2, that influences the serum urate concentration and the risk of hyperuricemia, and the degree of association varies with gender and BMI levels.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Asian People / genetics
  • Female
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • Hyperuricemia / blood
  • Hyperuricemia / genetics*
  • Male
  • Overweight / blood
  • Overweight / genetics*
  • Point Mutation
  • Sex Characteristics
  • Uncoupling Protein 2 / genetics*
  • Uric Acid / blood*

Substances

  • UCP2 protein, human
  • Uncoupling Protein 2
  • Uric Acid