rs16890979（C〉T）多态性与四川省川北地区汉族人群原发性痛风的相关性研究

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

目的探讨SLC2A9基因rs16890979（c〉T）的多态性与四川省川北地区汉族人群原发性痛风及血尿酸水平的相关性。方法采用TaqMan 探针法检测痛风组（原发性痛风性关节炎患者297例）和对照组（健康体检者211名）rs16890979（C〉T）位点的基因型。采用，检验比较两组基因型及等位基因分布频率，计算优势比值（OR）及95％可信区间（95％CI）；计量资料采用t检验或方差分析比较。结果候选SNP位点基因型在研究人群中的分布符合Hardy-Weiberg遗传平衡定律（P〉0．05）.在508例研究对象中，497例（97．8％）为CC基因型，11例（2．2％）为CT基因型，人群中未检测到TT基因型。其中CC、CT基因型在痛风组的的分布频率为98．7％和1．3％，健康对照组中的分布频率为96．7％和3．3％，二者差异无统计学意义[P=0．214；OR=0．398，95％CI（0．115，1．377）]；等位基因C和T在2组的分布频率差异亦无统计学：意义[99．3％，0．7％；99．8％，0．2％；p=0．217；OR=0．402，95％（7／（0．117，1．382）.携带CC和CT基因型研究对象的尿酸、空腹血糖及其他实验室指标差异无统计学意义（P〉0．05o结论尚不能认为SLC2A9基因rs16890979（C〉T）位点的多态性与四川省川北地区汉族人群原发性痛风及血尿酸水平相关，需扩大样本量进一步探究。

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 Chi-square test was use to analyze the difference in distribution of genotypes and alleles. The odds ratios （OR） and 95% confidence intervals （95% C/） 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%C1（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 presem 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.