·糖尿病分子生物学与遗传学·

　　吕超 韩学尧 张晓梅 孙秀芹 张秀英 周翔海 任倩 纪立农

　　基金项目：国家重点基础研究发展计划(973计划)资助项目(T2006CB503900);国家高技术研究发展计划(863计划)资助项目(2006AA02A409);国家自然科学基金资助项目(30570873，30771031)

　　作者单位：100044北京大学人民医院内分泌科，北京大学糖尿病中心

　　通讯作者：纪立农，E-mail: jiln@bjmu.edu.cn

　　【摘要】 目的 评估甲状腺腺瘤相关基因(THADA)与中国北方汉族人群2型糖尿病(T2DM)的相关性。 方法 以1 050例T2DM患者和1 030名糖耐量正常者(NGT)为研究对象，采用病例-对照研究设计，对THADA基因区的5个单核苷酸多态性(SNPs)位点：rs13026309、rs13029250、rs13022691、rs4952986、rs6739828进行基因分型，通过Logistic回归、线性回归分析等位基因变异与T2DM及其相关性状的关联。 结果 女性NGT人群在相加遗传模式下调整年龄、性别和BMI后，rs4952986位点与FIns(P=0.0095)、HOMA-IR(P=0.0123)、HOMA-β(P=0.0089)相关。 结论 THADA基因的rs4952986位点在中国北方汉族女性人群中，与胰岛素抵抗、胰岛素分泌功能相关，所选的5个位点未发现与T2DM相关。

　　【关键词】糖尿病，2型;甲状腺腺瘤相关基因;胰岛素抵抗;胰岛细胞功能

　　doi:10.3969/j.issn.1006-6187.2011.10.001

　　The relation of SNPs at THADA locus with type 2 diabetes in northern Chinese Han population

　　L? Chao, HAN Xue-yao, ZHANG Xiao-mei, et al. Department of Endocrinology, Peking University People′s Hospital, Beijing 100044, China

　　Corresponding author: JI Li-nong, E-mail：jiln@bjmu.edu.cn

　　【Abstract】 Objective To assess relationship of the single nucleotide polymorphisms (SNPs) at THADA locus with type 2 diabetes (T2DM) in northern Chinese Han population. Methods We genotyped 1050 patients with T2DM and 1030 control subjects for rs13026309, rs4952986, rs6739828, rs13029250, rs13022691 at THADA genetic locus. The associations between these SNPs and T2DM were examined by logistic regression on additive, dominant, and recessive genetic models after adjusting for age, gender, and body mass index (BMI).Linear regression was used to analyze the associations between SNPs and quantitative diabetes-related traits. Results No significant association was found between any one of rs13026309, rs4952986, rs6739828, rs13029250, rs13022691 with T2DM. Rs4952986 was associated with fasting insulin concentration, insulin resistance (HOMA-IR) and beta cell function (HOMA-β) assessed by homeostasis model in women under additive model (Empirical P values=0.0095, 0.0123, 0.0089, respectively). Conclusion A common genetic variation of THADA loci is associated with higher level of fasting insulin, insulin resistance and beta-cell function in Chinese female population. We do not replicate the association of THADA gene with type 2 diabetes .

　　【Key words】Diabetes mellitus, type 2;Thyroid adenoma associated gene; Insulin resistance;β-cell function