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[自身免疫性糖尿病的分子遗传学]

[Molecular genetics of autoimmune diabetes].

作者信息

Zha Min, Yang Tao, Chen Jia-wei

机构信息

Department of Endocrinology, the First Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu, P.R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Oct;27(5):521-3. doi: 10.3760/cma.j.issn.1003-9406.2010.05.010.

Abstract

Autoimmune diabetes is a T cell-mediated disease characterized by the autoimmune destruction of pancreatic β-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.

摘要

自身免疫性糖尿病是一种由T细胞介导的疾病,其特征是胰腺β细胞的自身免疫性破坏和胰岛素缺乏。它与多个基因相关。位于人类白细胞抗原(HLA)内的IDDM1位点和位于胰岛素基因区域的IDDM2位点是易感性的两个主要遗传因素。目前正在发现许多其他导致自身免疫性糖尿病易感性的位点,包括PTPN22、CTLA4、IL2RA和IFI1H。在本文中,将对这些位点及其在该疾病发病机制中可能涉及的免疫机制进行综述。

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