Polymorphism of rs7688672 and rs10033237 in cGKII/PRKG2 and gout susceptibility of Han population in northern China

摘要

Gout is a genetic or acquired metabolic disease caused by increase of uric acid synthesis resulted from purine metabolic abnormalities. Whether cGMP-dependent protein kinase 2 (cGKII/PRKG2) is correlated with gout remains controversial. The objective of the present study was to investigate whether there is a correlation between polymorphism of cGKII/PRKG2 and gout susceptibility of Han population in northern China. Four hundred and five male patients with gout in the case group and 429 controls in the control group were collected from the Department of Endocrinology and Metabolic Disease, the Fourth Affiliated Hospital of Harbin Medical University. A case-control study method was used to study the correlation between cGKII/PRICG2 polymorphism rs7688672 and rsl 0033237 and gout susceptibility. The genotype frequencies of rs7688672 and rs10033237 polymorphisms of cGKII/PRKG2 in the case group and the control group both were in accordance with Hardy-Weinberg equilibrium. There were significant differences of rsl 0033237 in the allele frequencies and genotype distributions (P <0.05) between the two groups, while no association was found between rs7688672 and gout. Combined mutation sites AA* from rs7688672 and rs10033237 were negatively correlated with gout susceptibility, whereas haplotype GG* was positively correlated with gout susceptibility. In conclusion, patients with rs10033237 polymorphism of cGKII/PRKG2 gene are more likely to suffer from gout With regard to haplotypes of rsl 0033237 and rs7688672, both AA* and GG* are related to gout. AA* is a gout susceptible gene, whereas GG* is a protective gene. (C) 2015 Elsevier B.V. All rights reserved.