突尼斯类风湿性关节炎患者PTPN22和FcgR基因的功能多态性

I Sfar, T Dhaouadi, I Habibi, L Abdelmoula, M Makhlouf, T Ben Romdhane, S Jendoubi-Ayed, H Aouadi, T Ben Abdallah, K Ayed, R Zouari, Y Lakhoua-Gorgi
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引用次数: 0

摘要

为了研究蛋白酪氨酸磷酸酶非受体22型(PTPN22-R620W)和IgG Fc片段受体(FcgRIIa-H131R、fcgriia - f158v、FcgRIIIb-NA1/NA2)的功能多态性与类风湿关节炎(RA)之间的可能关联,对133名突尼斯RA患者和100名对照组进行了基因分型。我们发现了PTPN22 620W等位基因与RA相关的有力证据。然而,分析没有检测到自身抗体血清阳性、结节或糜烂的存在与该等位基因之间的关联。在RA组中没有发现任何三种FcgR多态性的显著偏斜。尽管如此,我们确定FcgRIIIa-V/V158是严重疾病伴关节侵蚀的最重要的FcgR基因型,并观察到FcgRIIIb-NA2/NA2基因型患者的临床症状发生率较早。综上所述,我们确认PTPN22 620W等位基因与突尼斯RA相关,但不构成影响临床表现的因素。相反,本研究支持FcgRIIa/IIIa和IIIb多态性可能影响该疾病的病程和严重程度。需要大量的样本来独立证实这些发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Functional polymorphisms of PTPN22 and FcgR genes in Tunisian patients with rheumatoid arthritis.

To investigate a possible association between functional polymorphisms of the protein tyrosine phosphatase nonreceptor type 22 (PTPN22-R620W) and receptors for the Fc fragment of IgG (FcgRIIa-H131R, FcgRIIIa-F158V FcgRIIIb-NA1/NA2), and rheumatoid arthritis (RA), 133 Tunisian patients with RA and 100 controls were genotyped. We found strong evidence of an association of PTPN22 620W allele and RA. However, analysis does not detect an association between auto-antibodies seropositivity, presence of nodules or erosions and this allele. No significant skewing of any of the three FcgR polymorphisms was seen in this RA group. Nevertheless, we identified FcgRIIIa-V/V158 as the most important FcgR genotype for severe disease subset with joint erosions and observed that patients with FcgRIIIb-NA2/NA2 genotype had an earlier incidence of clinical symptoms. In conclusion, we have confirmed that PTPN22 620W allele is associated with Tunisian RA but does not constitute a factor influencing clinical manifestations. Conversely, this study supports that the FcgRIIa/IIIa and IIIb polymorphisms could influence the course and the severity of this disease. A large number of samples are required to provide independent confirmation of these findings.

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