自身免疫糖尿病的分子遗传学  

Molecular genetics of autoimmune diabetes

作　　者：查敏[1] 杨涛[1] 陈家伟[1] 

机构地区：[1]南京医科大学第一附属医院内分泌科,210029

出　　处：《中华医学遗传学杂志》2010年第5期521-523,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30671010,30971405）

摘　　要：自身免疫糖尿病是一种T细胞介导的疾病，以B细胞免疫损伤及胰岛素缺乏为特征，与多种基因相关，除了位于人类白细胞抗原（human leukocyte antigen，HLA）基因区的IDDM1和位于人胰岛素的基因区IDDM2被公认为是1A型糖尿病的主效基因外，不断有新的潜在致病基因被发现，如PTPN22、CTLA4、IL2RA、IFIH1等。现针对这些相关性研究结果及其中可能涉及的免疫学机制作一综述。Autoimmune diabetes is a T cell-mediated disease characterized by the autoimmune destruction of pancreatic 13 cells and insulin deficiency. It is related to multiple genes. The IDDM1 locus, which lies within the human leukocyte antigen （HLA） and the IDDM2 locus, which is located to the insulin gene region, are two major genetic contributors of susceptibility. Many other loci conferring susceptibility to autoimmune diabetes are being discovered, including PTPN22, CTLA4, IL2RA and IFIH1. In this article, these loci and their possible immunologic mechanisms involved in the pathogenesis of this disease will be reviewed.

关 键 词：自身免疫糖尿病 主要组织相容性复合体 分子遗传学 

分 类 号：R686[医药卫生—骨科学]