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HLA-DRB1是自身免疫拼图中那个声名狼藉的基因。

HLA-DRB1 the notorious gene in the mosaic of autoimmunity.

作者信息

Arango María-Teresa, Perricone Carlo, Kivity Shaye, Cipriano Enrica, Ceccarelli Fulvia, Valesini Guido, Shoenfeld Yehuda

机构信息

Zabludowicz Center for Autoimmune Diseases, The Sheba Medical Center, Tel-Hashomer, 52621, Ramat Gan, Israel.

Department of Biomedical Sciences, Universidad del Rosario, Bogota, Colombia.

出版信息

Immunol Res. 2017 Feb;65(1):82-98. doi: 10.1007/s12026-016-8817-7.

Abstract

The major histocompatibility complex system is the most polymorphic gene cluster of the mammal genome. In humans, this is a genomic locus known as the human leukocyte antigen (HLA) system. The HLA encodes mostly immune-associated proteins whose main effect is the presentation of antigens to the immune cells. Thus, it is clear that it is essential for to the proper function of the immune response against pathogens and strongly implicated in the development of autoimmune diseases. Nonetheless, there are hundreds of polymorphisms of HLA-DRB1 which have been associated with different autoimmune disorders as well as with immune response to infection and vaccines. It is possible that the interaction of specific HLA with pathogenic antigens is one of the keys favoring (or protecting) toward the development of an autoimmune disease. In the era of personalized medicine, it would be of great help to build a map of the genomic risk of each individual to evaluate the risk of developing an autoimmune condition.

摘要

主要组织相容性复合体系统是哺乳动物基因组中最具多态性的基因簇。在人类中,这是一个被称为人类白细胞抗原(HLA)系统的基因组位点。HLA主要编码与免疫相关的蛋白质,其主要作用是将抗原呈递给免疫细胞。因此,很明显,它对于针对病原体的免疫反应的正常功能至关重要,并且与自身免疫性疾病的发展密切相关。尽管如此,HLA - DRB1有数百种多态性,它们与不同的自身免疫性疾病以及对感染和疫苗的免疫反应有关。特定HLA与致病性抗原的相互作用可能是有利于(或保护)自身免疫性疾病发展的关键因素之一。在个性化医疗时代,绘制每个人的基因组风险图谱以评估患自身免疫性疾病的风险将非常有帮助。

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