恩施地区人群葡萄糖激酶调控蛋白基因rs1260326位点多态性与原发性痛风及高尿酸血症的相关性研究

Correlation of polymorphism of rs1260326 loci in glucokinase regulatory protein gene with primary gout and hyperuricemia in Enshi population

目的探讨葡萄糖激酶调控蛋白（GCKR）基因rs1260326位点多态性与恩施市原发性痛风和高尿酸血症的相关性。方法收集原发性痛风患者158例、高尿酸血症患者190例和健康对照者104名。采用Hi-单核苷酸多态性（SNP）结合多重PCR技术和高通量测序技术，对该位点进行基因分析，分析不同等位基因或基因型与原发性痛风和高尿酸血症易感性的关系。符合正态分布的计量资料比较用t检验或方差分析；计数资料比较用χ2检验。用Logistic回归分析评估痛风与高尿酸血症发病的相对风险。结果rs1260326基因型CC、TC、TT在痛风组中频率分别为8.8%（14/158）、60.8%（96/158）、30.4%（48/158），在高尿酸血症组中分别为15.8%（30/190）、54.7%（104/190）、29.5%（56/190），在健康对照组中分别为21.2%（22/104）、45.1%（47/104）、33.7%（35/104），痛风组与健康对照组基因型分布差异有统计学意义（χ2=9.895，P=0.007），高尿酸血症组与健康对照组基因型分布差异无统计学意义（χ2=2.665，P=0.264）。等位基因C和T在痛风组中频率分别为39.2%（124/316）和60.8%（192/316），高尿酸血症组分别为43.2%（164/380）和56.8%（216/380），健康对照组分别为43.8%（91/208）和56.2%（117/208）。等位基因T是痛风的易感基因。基因型TC、TT、TC＋TT使患痛风的危险性分别上升3.848、2.935、2.969倍。Logistic回归分析表明rs1260326位点SNP与高尿酸血症没有易感性。结论GCKR基因rs1260326位点SNP可能与恩施地区原发性痛风的发病相关，而与高尿酸血症没有相关性。

ObjectiveTo investigate the relationship between rs1260326 polymorphism of glucokinase regulatory protein gene and hyperuricemia and primary gout in Enshi area populations.MethodsOne hun-dred and fifty-eight primary gout, 190 hyperuricemia and 104 healthy controls （normal group） in total were collected. Hi-single nucleotide polymorphism （SNP） combined with multiplex polymerase chain reaction （PCR） with next generation sequencing techniques were used for gene polymorphism analysis, and the relationship between different alleles or genotypes and susceptibility to primary gout and hyperuricemia were analyzed. The measurement data and numeration data were statistically analyzed with t test and χ2 test respectively. Logistic regression analysis was used to assess the relative risk of gout and hyperuricemia. ResultsThe frequency of rs1260326 genotype CC, TC, TT was 8.8% （14/158） , 60.8%（96/158）, 30.4%（48/158） respectively in gout patients, 15.8%（30/190）, 54.7%（104/190）, 29.5%（56/190） in hyperuricemia patients, 21.2%（22/104）, 45.1% （47/104）, 33.7%（35/104） in the normal group, the genotype distribution was significantly different in gout group and normal group （χ2=9.895, P=0.007）, and there was no difference between hyperuricemia group and normal group （χ2=2.665, P=0.264）. Allele C and T frequency was 39.2%（124/316） and 60.8%（192/316） in gout patients, 43.2%（164/380） and 56.8%（216/380） in hyperuricemia patients, 43.8%（91/208） and 56.2%（117/208） in the normal group. Allele T was the susceptible gene for gout. Logistic regression analysis showed that genotypes TC, TT, TC＋TT increased the risk of gout. And Logistic regression analysis showed that rs1260326 single nucleotide polymorphism and hyperuricemia were no susceptibile. ConclusionGlucokinase regulatory protein （GCKR） rs1260326 sin-gle nucleotide polymorphism may be associated with primary gout risk in En Shi area, but has no significant correlation with hyperuricemia.