突尼斯人群中HLA-DRB1*0405的特定氨基酸序列（QRRAA）与类风湿关节炎的关联。

Association of specific amino acid sequence (QRRAA) of HLA-DRB1*0405 with rheumatoid arthritis in a Tunisian population.

作者信息

Dhaouadi T, Sfar I, Abdelmoula L, Bardi R, Jendoubi-Ayed S, Makhlouf M, Aouadi H, Ben Abdallah T, Zouari R, Ayed K, Lakhoua-Gorgi Y

机构信息

Laboratoire de Recherche en transplantation rénale et en immunopathologie, Department of Rheumatology, EPS Charles Nicolle, Tunis, Tunisia (LROISP03).

出版信息

Arch Inst Pasteur Tunis. 2010;87(1-2):53-9.

PMID:21598828

Abstract

This study aimed to investigate HLA-DRB1 alleles in rheumatoid arthritis (RA) patients from Tunisia and to examine the effect of these alleles on disease severity. HLA-DRBI alleles and sub-typing of DRBI04 and 01 were determined in 90 patients and 100 healthy controls, by PCR-SSP. HLA-DRB104 was significantly higher in patients (51.1%) than in controls (27%) [OR=2.83, p=0.00066]. DRBJ0405 was found to be the unique DR4 allele associated with RA (28.88% vs 6%) [OR=6.36, p=0.000059]. A significant decrease in the frequency of HLA-DRB10701 was observed in RA patients (16.66%) compared to controls (36%) [p=0.0026]. However, the frequency of patients carrying the shared epitope (SE) QRRAA, was slightly increased compared with controls (37.8% vs 23%) [OR=2.03, p=0.039]. We found that the presence of rheumatoid factor, HLA-DR4 and HLA-DRBI0405 were not significantly associated with bone erosions or the presence of extra-joint involvement. In our population, the SE (QRRAA) expressed in DRBI04 alleles is related to the susceptibility to RA but it is not involved in RA severity in Tunisia, while DRBI0701 might protect against this disease.

摘要

本研究旨在调查突尼斯类风湿关节炎（RA）患者的HLA - DRB1等位基因，并研究这些等位基因对疾病严重程度的影响。通过聚合酶链反应 - 序列特异性引物（PCR - SSP）方法，对90例患者和100例健康对照者进行HLA - DRBI等位基因及DRBI04和01亚型的检测。患者中HLA - DRB104的比例（51.1%）显著高于对照组（27%）[比值比（OR）=2.83，p = 0.00066]。发现DRBJ0405是与RA相关的唯一DR4等位基因（28.88%对6%）[OR = 6.36，p = 0.000059]。与对照组（36%）相比，RA患者中HLA - DRB10701的频率显著降低（16.66%）[p = 0.0026]。然而，携带共同表位（SE）QRRAA的患者频率与对照组相比略有增加（37.8%对23%）[OR = 2.03，p = 0.039]。我们发现类风湿因子、HLA - DR4和HLA - DRBI0405的存在与骨侵蚀或关节外受累的存在无显著相关性。在我们的研究人群中，DRBI04等位基因中表达的SE（QRRAA）与RA易感性相关，但在突尼斯它与RA严重程度无关，而DRBI0701可能对该病具有保护作用。