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乳糜泻中MICA基因跨膜区域的三联体重复多态性

Triplet repeat polymorphism in the transmembrane region of the MICA gene in celiac disease.

作者信息

Fernandez L, Fernandez-Arquero M, Gual L, Lazaro F, Maluenda C, Polanco I, Figueredo M A, Gomez de la Concha Emilio

机构信息

Deparment of immunology, San Carlos University Hospital, Madrid, Spain.

出版信息

Tissue Antigens. 2002 Mar;59(3):219-22. doi: 10.1034/j.1399-0039.2002.590307.x.

Abstract

Celiac disease (CD) is characterized by a striking expansion of gamma delta T cells in the intestine. These cells interact with MICA, a cell surface protein encoded by a major histocompatibility complex gene. We investigated whether MICA gene polymorphism could contribute to susceptibility to CD. DNA typing for HLA-DR, DQA1, DQB1, TNF-308, TNFa, TNFb and a triplet repeat polymorphism in the transmembrane region of the MICA gene were carried out. We performed case-control stratified association studies and transmission disequilibrium tests. Our results indicate that although there is no primary association between MICA polymorphism and CD, there is, in addition to HLA-DQ, a second susceptibility locus on the 8.1 ancestral haplotype in strong linkage disequilibrium with MICA A5.1 allele.

摘要

乳糜泻(CD)的特征是肠道中γδT细胞显著扩增。这些细胞与MICA相互作用,MICA是一种由主要组织相容性复合体基因编码的细胞表面蛋白。我们研究了MICA基因多态性是否会导致CD易感性。对HLA-DR、DQA1、DQB1、TNF-308、TNFα、TNFβ以及MICA基因跨膜区域的三联体重复多态性进行了DNA分型。我们进行了病例对照分层关联研究和传递不平衡检验。我们的结果表明,虽然MICA多态性与CD之间没有主要关联,但除了HLA-DQ之外,在与MICA A5.1等位基因处于强连锁不平衡状态的8.1祖先单倍型上存在第二个易感位点。

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