最近描述的位于2号染色体2q33上的CD28基因多态性与1型糖尿病易感性无关。

A recently described polymorphism in the CD28 gene on chromosome 2q33 is not associated with susceptibility to type 1 diabetes.

作者信息

Wood J P, Pani M A, Bieda K, Meyer G, Usadel K-H, Badenhoop K

机构信息

Department of Internal Medicine I, Division of Endocrinology, University Hospital Frankfurt, Frankfurt am Main, Germany.

出版信息

Eur J Immunogenet. 2002 Aug;29(4):347-9. doi: 10.1046/j.1365-2370.2002.00328.x.

DOI:10.1046/j.1365-2370.2002.00328.x

PMID:12121283

Abstract

Type 1 diabetes mellitus is an autoimmune disease with a strong genetic background. The CTLA4 gene region (IDDM12) has been implicated in genetic susceptibility to type 1 diabetes by genome scanning and both family- and population-based analyses. As the genes encoding the costimulatory molecules CTLA4 and CD28, which compete for the receptor B7, reside close together on chromosome 2q33 and have high sequence homology, we investigated a recently described polymorphism in intron 3 of the CD28 gene and the CLTA4 codon 17 polymorphism in 176 patients with type 1 diabetes and 220 healthy controls. Whereas CTLA4 was found to be associated with type 1 diabetes, the frequency of the CD28 polymorphism did not differ between patients and controls, either in the entire sample or after stratification for CTLA4 genotype. Thus, the CD28 intron 3 polymorphism does not appear to be associated with susceptibility to type 1 diabetes.

摘要

1型糖尿病是一种具有强大遗传背景的自身免疫性疾病。通过基因组扫描以及基于家系和人群的分析，细胞毒性T淋巴细胞相关抗原4（CTLA4）基因区域（IDDM12）已被证实与1型糖尿病的遗传易感性有关。由于编码共刺激分子CTLA4和CD28（二者竞争受体B7）的基因在2号染色体q33区域紧密相邻且具有高度序列同源性，我们对176例1型糖尿病患者和220名健康对照者进行研究，分析了CD28基因内含子3中一个最近描述的多态性以及CTLA4第17密码子多态性。虽然发现CTLA4与1型糖尿病相关，但无论是在整个样本中还是按CTLA4基因型分层后，患者与对照者之间CD28多态性的频率并无差异。因此，CD28基因内含子3多态性似乎与1型糖尿病易感性无关。