Relationship between the single nucleotide polymorphism of rs16890979(C>T) and primary gout in Northern Sichuan

Abstract

Objective To explore the single nucleotide polymorphism of SLC2A9 (rs16890979) (C>T) among a Chinese Han population in Sichuan in order to investigate the relationship between polymorphism of rs16890979(C>T) and primary gout and serum uric acid levels. Methods A total of 297 primary gout arthritis patients (GA) and 211 normal controls (NC) were enrolled. The genotype and allele frequencies were calculated using TaqMan ® SNP Genotyping Assays and the possible association of gene polymorphism of SLC2A9 (rs16890979) with primary gout and serum uric acid levels were investigated. The Chisquare test was use to analyze the difference in distribution of genotypes and alleles. The odds ratios (OR) and 95% confidence intervals (95% CI) obtained were used to measure the strength of relationships in the genotype and allele distribution frequencies of SNPs between the cases and controls. The quantitative data were described using means± standard deviations and Student's t-test, and the variance analysis was used to analyze the significant difference in demographic and clinical characteristics between cases and controls. Results Genotype distributions were in Hardy-Weinberg equilibrium in controls (P>0.05). The frequencies of CC genotype and CT genotype among all subjects were 97.8% and 2.2% respectively, while the occurrence of the homozygous type (TT) was completely absent among the studies. The frequencies of CC and CT genotype were 98.7% and 1.3% respectively among gout patients, while the frequencies of CC and CT genotype were 96.7% and 3.3% respectively among controls. There was no statistical difference in genotype frequencies between the two groups [(P=0.214; OR=0.398, 95%CI(0.115,1.377)]. Likewise, the allele frequencies of C and T in gout cases were not different from controls [99.3%, 0.7%; 99.8%, 0.2%; P=0.217; OR=0.402, 95%CI(0.117, 1.382)]. Moreover, we also did not find the difference of the serum uric levels, fast blood glucose(FBG) and other clinical data between CC genotype carriers and CT genotype carriers(P>0.05). Conclusion Results of the present study suggest that the single nucleotide polymorphism of SLC2A9 (rs16890979) presumably is not associated with serum uric acid levels and gout and further study is needed. Key words: Polymorphism, single nucleotide; Gout; Han nationality; SLC2A9