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目的探讨甘肃地区汉族人中白细胞介素6受体基因(interleukin6receptorgene,IL6R)启动子-183(G→A)和第9外显子D358A的变异与2型糖尿病(type2diabetesmellitus,T2DM)的关联。方法随机选取无亲缘关系甘肃地区汉族人183名,其中T2DM患者87例、正常对照96名,应用聚合酶链反应-限制性片段长度多态性(polymerasechainreaction-restrictionfragmentlengthpolymorphism,PCR-RFLP)方法进行-183(G→A)和D358A变异的检测。结果正常对照组D358A的3种基因型频率和等位基因频率分别为AA31.2%、AC41.7%、CC27.1%、A52.1%、C47.9%,2型糖尿病组相应为AA44.8%、AC41.4%、CC13.8%、A65.5%、C34.5%,正常对照组CC基因型频率和C等位基因频率高于2型糖尿病组(χ2=4.900,P<0.05;χ2=6.784,P<0·01)。-183(G→A)3种基因型频率和等位基因频率差异无统计学意义。结论提示该基因D358A多态可能与中国人2型糖尿病关联。
Objective To investigate the association between the mutation of IL-18 (G → A) and exon 9 D358A in type 2 diabetes mellitus (T2DM) in Chinese Han population in Gansu province. Methods A total of 183 Chinese Han unrelated individuals were enrolled in this study. Among them, 87 patients with T2DM and 96 normal controls were enrolled in this study. PCR-RFLP method was used to detect -183 (G → A) and D358A mutation detection. Results The frequencies of three genotypes and alleles of D358A in normal control group were AA31.2%, AC41.7%, CC27.1%, A52.1% and C47.9%, respectively, and those in type 2 diabetes were AA44 .8%, AC41.4%, CC13.8%, A65.5%, C34.5%. The frequency of CC genotype and C allele in control group were higher than those in type 2 diabetes group (χ2 = 4.900, P < 0.05; χ2 = 6.784, P <0.01). There was no significant difference in the frequencies of -183 (G → A) genotypes and alleles among the three genotypes. The results suggest that this gene D358A polymorphism may be associated with type 2 diabetes in Chinese.