MICA基因型在自身免疫性1型糖尿病中的作用.docVIP

  MICA 基因型在自身免疫性 1 型糖尿病中的 作用# 林健，罗说明，谭愈昱，张贻宇，周智广** 5 10 15 20 25 30 35 40 （中南大学湘雅二医院内分泌科，中南大学糖尿病中心，中南大学代谢内 分泌研究所，糖尿病免疫学教育部重点实验室，长沙 410011） 摘要：目的 探讨 MICA 基因型在自身免疫性 1 型糖尿病各种亚型中的分布特点及其 与 HLA-DQ 基因的关系。 方法 用 PCR-直接测序法检测自身免疫性 T1DM 和正常对照者 MICA 和 HLA-DQ 基因型。结果 （1） 中国人群 MICA 基因的分布与高加索人群有明显差 异，而与东亚人相似；（2）MICA4、MICA9 等位基因和 MICA4／9、MICA9／9 基因型的 频率在青少年急性起病 T1DM 患者较正常对照增多，而 MICA5、MICA5.1 等位基因和 MICA5.1／A5.1 基因型的频率减少。（3）MICA 基因的频率在成人急性起病 T1DM 与正 常 对照组无明显差异。（4） MICA 与 HLA-DQ 基因无连锁不平衡。结论 MICA 基因多态 性 与青少年急性起病 T1DM 相关，而与成人急性起病 T1DM 中无关。 关键词：内科学；MICA；HLA-DQ；基因型；1 型糖尿病 中图分类号：R587.1 The Significance of MICA Genotypes in Autoimmune Type 1 Diabetes LIN Jian, LUO Shuoming, TAN Yuyu, ZHANG Yiyu, ZHOU Zhiguang (Diabetes Center, 2nd Xiangya Hospital, and Institute of Metabolism and Endocrinology, Key Laboratory of Diabetes Immunology, Ministry of Education, Central South University, Changsha 410011) Abstract: Objective To investigate the distribution of MICA genotypes in different subgroups of autoimmune type 1 diabetes (T1DM) and its interaction with HLA-DQ genotypes. Methods: A total of 193 cases of T1DM patients and 258 nondiabetic unrelated controls were typed for the polymorphisms of MICA and HLA-DQ gene with PCR sequencing-base typing method. The patients with T1DM were divided into juvenile-onset T1DM (JO) and adult-onset T1DM (AO) according to the age at onset higher than 20 years or not. Results (1) The frequency of MICA5 was higher (37.8%) than other MICA alleles in Hunan Hans, and the frequencies of A5.1, A9, A4, A6 were 25.25%, 16.83%, 10.89%, 8.42% respectively. The MICA genetic background is different from that of Caucasian, but similar to Japanese, Koreans and Chinese of Taiwan. (2) MICA4, MICA9 and MICA4/9, MICA9/9 were more frequent in juvenile-onset T1DM than nondiabetic controls (P0.05), and MICA5, MICA5.1 and MICA5.1/A5.1 were less frequent (P0.05).(3)There were no difference in MICA gene distribution between adult-onset T1DM and nondiabetic controls. (4)There were no l