title: Investigation into the association between P2RX7 gene polymorphisms and susceptibility to primary gout and hyperuricemia in a Chinese Han male population.
abstract: The purpose of this study was to investigate the relationship between P2RX7 gene single nucleotide polymorphisms and primary gout and hyperuricemia in a Chinese Han male population. The genetic distributions of the single nucleotide polymorphisms (SNPs) rs2230911, rs208294, rs435309, rs28360447, rs1718119, rs28360457, and rs3751143 in P2RX7 were detected in 293 primary gout patients, 187 hyperuricemia patients and 269 controls using SNaPshot technology. Statistical analyses were implemented using SPSS version 20.0. The genetic distributions of each group were tested for Hardy-Weinberg equilibrium (HWE). T test, analysis of variance, rank sum test and Chi-square test were measured to assess differences in clinical data and polymorphisms among groups. Logistic regression was used to assess susceptibility to disease with odds ratios (ORs) and 95% confidence intervals (95% CIs). SHEsis software was used to calculate linkage disequilibrium blocks and haplotype association risk. P < .05 was regarded as statistically significant. Three SNPs (rs2230911, rs208294 and rs435309) did not deviate significantly from HWE (P > .05). In the comparison between primary gout and control, the frequencies of rs2230911 genotypes were significantly different (P = .002), and allele G was associated with a higher risk of primary gout than allele C [OR (95% CI) = 1.755 (1.278, 2.410), P < .001]. There was also a higher risk of primary gout in genotype (CG + GG) compared with genotype CC [OR (95% CI) = 1.876 (1.303, 2.701), P = .001]. However, no significant difference in allelic or genotypic frequency was observed between primary gout patients and hyperuricemia patients (P > .0167). Similarly, there were no obvious differences in the other two polymorphisms among the three groups (P > .05). Our results reveal that P2RX7 rs2230911 may be associated with primary gout risk in a Chinese Han male population and allele G may be a susceptibility factor for primary gout.
authors.affiliation: Department of Rheumatology, Ningbo No. 2 Hospital, Ningbo University School of Medicine, Zhejiang, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Ying
authors.affiliation: Department of Rheumatology, Ningbo No. 2 Hospital, Ningbo University School of Medicine, Zhejiang, China. nbdeyycy@163.com.
authors.forename: Yong
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Rheumatology, Ningbo No. 2 Hospital, Ningbo University School of Medicine, Zhejiang, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Li
authors.affiliation: Department of Rheumatology, Ningbo No. 2 Hospital, Ningbo University School of Medicine, Zhejiang, China.
authors.forename: Haiyan
authors.initials: H
authors.lastname: Huang
authors.affiliation: Department of Rheumatology, Ningbo No. 2 Hospital, Ningbo University School of Medicine, Zhejiang, China.
authors.forename: Qiongyao
authors.initials: Q
authors.lastname: Gong
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006073:Gout / Q000235:genetics*; D006801:Humans; D033461:Hyperuricemia / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D058486:Receptors, Purinergic P2X7 / Q000235:genetics*
chemical_list: C546468:P2RX7 protein, human; D058486:Receptors, Purinergic P2X7
keywords: Hyperuricemia; P2RX7; Polymorphism; Primary gout; SNP