【摘要】 目的  探讨乙酰辅酶A羧化酶B（ACACB）基因（rs2268388 及rs2268393）多态性与中国昆明地区汉族人群T2DM的相关性。 方法  分别运用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术及Taqman探针技术，在昆明地区汉族人群中对184例T2DM患者和70名健康对照者（NC）的ACACB基因（rs2268388 及rs2268393）多态性进行检测，并比较分析各组间基因型、等位基因频率、相关临床和生化指标。 结果  T2DM组和NC组ACACB基因rs2268393各基因型和等位基因频率比较,差异无统计学意义（c²=4.810,P=0.09, c²=1.29, P =0.24）； T2DM组ACACB基因rs2268388 AA基因型和A等位基因频率高于NC组（c²=10.469，P =0.005, c²=4.71，P =0.007）；T2DM组ACACB基因rs2268388及rs2268393位点AABB基因型分布频率高于NC组（c² =10.526, P =0.001）；AABB基因型是T2DM发生的危险因素（OR: 1.44，95%CI：1.32~1.57）；二分类Logistic回归分析表明，ACACB基因rs2268388 AA基因型、高BMI及高WHR是T2DM发生的危险因素，HDL-C是T2DM发生的保护因素。  结论  在昆明地区汉族人群中，ACACB基因rs2268388 AA基因型可能与T2DM发生相关

    【关键词】 糖尿病，2型；乙酰辅酶A羧化酶B基因；多态性

    Association analysis between the Polymorphisms of ACACB gene and Type 2 diabetes mellitus

      【Abstract】 Objective   To investigate the relationship between polymorphisms (rs2268388 and rs2268393) of ACACB gene and type 2 diabetes mellitus (T2DM) in Kunming Han Chinese population.  Methods   A total of 254 Kunming Han subjects were enrolled in this study and divided into two groups: type 2 diabetes group (T2DM, n=184) and control group (NC, n=70).Rs2268388 and rs2268393 polymorphisms of ACACB gene were detected by Taqman probe and PCR-RFLP. The genotype，allele frequency, related clinical and biochemical data were compared between the two groups.   Results  T here were no significant differences in rs2268393 genotype and allele frequency between T2DM group and NC group (c²=4.810, P =0.09, c²=1.29, P =0.24). AA genotype frequency and A allele frequency of rs2268388 was significantly higher in T2DM group than in NC group(c²=10.469，P=0.005, c²=4.71，P =0.007 respectively). AABB genotype frequency of rs2268388 and rs2268393 was significantly higher in T2DM group than in NC group( c² =10.526,  P =0.001). AABB genotype was a risk factor for T2DM (OR: 1.44，95%CI：1.32~1.57 ). Logistic regression analysis showed that rs2268388 AA genotype, high BMI and high WHR were risk factors for T2DM. HDL-C was a protective factor for T2DM.   Conclusion   Rs2268388 AA genotype of ACACB gene may be associated with T2DM in Kunming Han Chinese population.