Abstract
The aim of the study is to investigate the association between the human hepatocyte nuclear factor 4 gamma (HNF4G) gene and hyperuricemia in Chinese Han population. A total of 414 hyperuricemia patients and 406 gender and age-matched normouricemic controls were enrolled. Four single nucleotide polymorphisms were genotyped as genetic markers for the human HNF4G gene (rs2977939, rs1805098, rs2941484, rs4735692). Data were analyzed for two separate groups: men and women. For rs2941484, the genotype distribution frequency in hyperuricemic subjects and was significantly different from that in normouricemic controls in men (P = 0.038). Meanwhile, in recessive model of rs2941484, the distribution frequency of TT genotype and CC+CT genotypes also differed significantly between the hyperuricemia men and normouricemic men (P = 0.011). For the other 3 SNPs in both men and women, there was no difference in the genotype and allele and distribution frequency between the hyperuricemia patients and normouricemic controls. In men, after adjustments for BMI, SBP, DBP, fasting glucose, total cholesterol, triglycerides, low density lipoprotein cholesterol and creatinine, the men with the TT genotype of rs2941484 were found to have significantly higher probability of suffering from hyperuricemia than the ones with CT and CC genotypes (OR = 2.170, P < 0.001). Therefore, TT genotype of rs2941484 in the human HNF4G gene might be a gender-specific genetic marker for hyperuricemia in Chinese Han men.
Highlights
IntroductionElevated concentrations of serum uric acid, which is named as hyperuricemia, can cause gout [1,2]
Uric acid is a final breakdown product of purine oxidation in humans
An recent genome-wide association study (GWAS) combined data from > 140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC) [13], they reported that single nucleotide polymorphisms (SNPs) near hepatocyte nuclear factor 4 gamma (HNF4G) was found to be associated with uric acid concentrations (P = 4.4 × 10–17)
Summary
Elevated concentrations of serum uric acid, which is named as hyperuricemia, can cause gout [1,2]. Via reviewing the epidemiological surveys conducted in China, the pooled prevalence of hyperuricemia and gout was 13.3% and 1.1%, respectively [4]. It is especially common in the elderly population, one quarter of Chinese population had hyperuricemia according to a recent cross-sectional study of 3978 men aged 40–74 yrs living in Shanghai, China [5]. The heritability of serum uric acid concentrations is estimated at 40–70% [10,11,12], which justifies the search for its genetic determinants.
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