SLC2A9rs1014290位点基因多态性与北方汉族地区男性痛风发病的相关性研究

目的:探讨可溶性载体2家族成员9基因(SLC2A9)rs1014290位点的单核苷酸多态性与北方汉族地区男性原发性痛风的发病的相关性。方法:选取404例原发性痛风男性患者和412名健康体检者,分别检测其血清尿酸、血脂、肾功等生化指标,同时提取外周血DNA,应用连接酶检测反应(LDR)法分析其SLC2A9基因rs1014290位点基因型和等位基因频率。结果:痛风组空腹血糖、尿酸(UA)、甘油三酯(TG)、胆固醇(TC)、收缩压、BMI、肌酐(Cr)水平均显著高于对照组,差异有统计学意义(P0.05)。痛风组SLC2A9基因rs1014290位点各基因型频率(CC:12.8%;CT:53.5%;TT:38.7%)与对照组(CC:16.2%;CT:50.9%;TT:32.9%)相比差异有统计学意义(X2=3.978,P=0.041);两组的等位基因频率相比差异无统计学意义(X2=0.314,P=0.496)。结论:SLC2A9基因rs1014290位点多态性可能与我国北方汉族男性原发性痛风的易感性相关,携带TT基因型的个体更易患痛风。

Research on the Correlation of SLC2A9 rs1014290 Polymorphismwith Gout in Northern Chinese Han Male Population

Objective:To investigate the correlation of single nucleotide polymorphism (SNP) rs1014290 of SLC2A9 gene with gout in Northern Chinese Han male population.Methods:404 cases of male patients with primary gout and 412 cases of age-matched healthy subjects were randomly selected. The serum uric acid (UA), lipid, and renal function were detected. Meanwhile, the DNA in the peripheral blood was extract, and the genotype and allele frequency of rs1014290site in SLC2A9 gene was analyzed by polymerase chain reaction-ligase detection reaction (LDR) sequencing method.Results:The fast blood glucose, serum UA, triacylglycerol, cholesterol, systolic pressure, BMI, and creatinin were all significantly higher than those of control group(P<0.05). Significant differences were found in the rs1014290 genotype frequencies between gout group (CC: 12.8%; CT: 53.5%; TT: 38.7%) and control group (CC: 16.2%; CT: 50.9%; TT: 32.9%) (X2=3.972, P=0.041). No significant differences were found in rs1014290 allelic frequencies between gout group and control group (X2=0.314, P=0.496).Conclusion:rs1014290 polymorphism of SLC2A9 gene may be associated with the susceptibility to gout and play a role in the development of gout in the northern Chinese Han male population, and TT genotype individuals were more susceptible to gout.