共享表位纯合性与土耳其类风湿关节炎密切相关。伊斯坦布尔风湿病研究组。

G Saruhan-Direskeneli
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引用次数: 15

摘要

目的:HLA-DRB等位基因与类风湿关节炎(RA)的发病机制相关,在不同民族中存在差异。本研究旨在调查土耳其RA患者的DRB1等位基因。方法:采用聚合酶链反应/序列特异性寡核苷酸(PCR/SSO)杂交技术筛选101例血清阳性RA患者MHC DRB区,并与101例健康对照进行比较。结果:RA患者与对照组DRB1*0404 (12 vs 1, P = 0.003, OR = 13.5)、*0401 (19 vs 4, P = 0.001, OR = 5.6)、*0408 (5 vs 0, P = 0.06, OR = 11.6)的频率差异有统计学意义。共有表位(SE)存在于70.2%的RA患者中,而对照组为31.6% (P < 0.0001, OR = 5.1)。双剂量SE在RA组中更为常见(21 vs 1, P < 0.0001, OR = 26.5)。结论:这些结果支持了土耳其血清阳性患者中RA与SE正相关的报道,并强调“SE纯合性”是RA最强烈相关的遗传易感性标志物。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Shared epitope homozygosity' is strongly associated with rheumatoid arthritis in Turkey. Istanbul Rheumatology Study Group.

Objective: Associations with HLA-DRB alleles, implicated in the aetiopathogenesis of rheumatoid arthritis (RA), are found to be different in various ethnic groups. This study aimed to investigate DRB1 alleles in RA patients in Turkey.

Methods: The DRB region of the MHC was screened by polymerase chain reaction/sequence-specific oligonucleotide (PCR/SSO) hybridizations in 101 seropositive RA patients and compared with 101 healthy controls.

Results: Significant differences were in the frequencies of DRB1*0404 (12 vs 1, P = 0.003, OR = 13.5), *0401 (19 vs 4, P = 0.001, OR = 5.6) and *0408 (5 vs 0, P = 0.06, OR = 11.6) between RA patients and controls. The shared epitope (SE) was present in 70.2% of RA patients compared to 31.6% of controls (P < 0.0001, OR = 5.1). A double dose of SE was considerably more frequent in the RA group (21 vs 1, P < 0.0001, OR = 26.5).

Conclusion: These results support the reported positive association of RA with SE in seropositive patients in Turkey, and emphasize 'SE homozygosity' as the most strongly associated genetic susceptibility marker for RA.

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