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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(P<0.05)。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。
Objective: To investigate the association between single nucleotide polymorphisms at rs1014290 of SLC2A9 gene and the incidence of primary gout in Han population in northern China. Methods: Forty-four patients with primary gout and 412 healthy subjects were enrolled in this study. Serum uric acid, lipids, renal function and other biochemical parameters were detected. Meanwhile, peripheral blood DNA was extracted and ligated with SLC2A9 Gene rs1014290 locus genotype and allele frequency. Results: The levels of fasting blood glucose, uric acid (UA), triglyceride (TG), cholesterol (TC), systolic blood pressure, BMI and creatinine in gout group were significantly higher than those in control group ). The genotype frequencies of rs1014290 of SLC2A9 gene in gout group (CC: 12.8%; CT: 53.5%; TT: 38.7%) were significantly different from those in control group (CC: 16.2%; CT: 50.9%; TT: 32.9% Statistical significance (X2 = 3.978, P = 0.041). There was no significant difference in allele frequencies between two groups (X2 = 0.314, P = 0.496). Conclusion: Polymorphism of rs1014290 in SLC2A9 gene may be associated with susceptibility to primary gout in Han men in northern China. Individuals with TT genotype are more susceptible to gout.