HLA-DMA等位基因可能是类风湿关节炎的新标志物:科西嘉人的研究。

P Cucchi-Mouillot, S Lai, C Carcassi, P Silicani-Amoros, L Floris, J P Amoros, B Genetet, D Haras, L Contu
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引用次数: 7

摘要

HLA-DMA基因与HLA-DMB基因一起编码非经典的II类分子。该分子在经典的II类分子肽结合槽中催化II类相关不变链肽(CLIP)-抗原肽交换。因此,DM异二聚体是一种抗原呈递调节剂,可能与免疫系统缺陷有关,例如在自身免疫性疾病中观察到的那些缺陷。DMA基因多态性的研究似乎是一个合理的途径来提供这个问题的答案。通过pcr衍生的方法,本研究证实了DMA基因多态性与类风湿关节炎(RA)之间的关系。研究发现,DMA*0101等位基因具有显著的RA易感性,而DMA*0102等位基因具有显著的RA保护作用。HLA-DRB1基因多态性实验显示,DMA多态性与RA之间的关系并不是与该病理相关的HLA-DRB1等位基因连锁不平衡的结果。因此,对DMA基因的研究可能在RA的早期诊断中非常有用。
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HLA-DMA alleles are possible new markers of rheumatoid arthritis: study of a Corsican group.

The HLA-DMA gene, along with the HLA-DMB gene, encodes the not classical class II molecule. This molecule catalyzes the class-II-associated invariant-chain peptide (CLIP)-antigen peptide exchange in classical class II molecule peptide-binding groove. As such, the DM heterodimer is an antigen presentation regulator and may be linked to immune system deficiencies such as those observed in autoimmune diseases. The study of DMA gene polymorphism seems be a reasonable approach to provide an answer to this question. Thanks to PCR-derived methods, the relationship between DMA gene polymorphism and rheumatoid arthritis (RA) was demonstrated in the present study. The DMA*0101 allele was observed to confer a significant predisposition to RA while the DMA*0102 allele significantly protected from this disease. Polymorphism experiments with the HLA-DRB1 gene revealed that this relationship between DMA polymorphism and RA is not a consequence of a linkage disequilibrium with the HLA-DRB1 alleles implicated in this pathology. The study of the DMA gene could therefore prove to be very useful in the early diagnosis of RA.

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