Fas/FasL promoter gene polymorphism in patients with rheumatoid arthritis
Fas/FasL promoter gene polymorphism in patients with rheumatoid arthritis
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DOI：
10.4081/reumatismo.2012.374
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发表时间：
2012-01-01
期刊：
影响因子：
1.4
通讯作者：
Berdeli, A.
中科院分区：
文献类型：
--
作者：
Kobak, S.;Berdeli, A.
目标. Fas/FasL在类风湿关节炎（RA）的发病机制中起重要作用。Fas/FasL基因多态性可能与类风湿关节炎的易感性及疾病严重程度相关。目的探讨类风湿关节炎（RA）患者Fas 670 G/A和FasL 843 C/T基因型及等位基因频率，并探讨其与RA易感性及临床参数的关系。101例RA患者和105例健康对照受试者入组研究。采用PCR-RFLP方法检测Fas 670 A/G和FasL 843 C/T基因型多态性。采用卡方检验分析基因型分布和等位基因发生率。RA组与健康对照组Fas-670 A/G和FasL-843 C/T基因型分布及等位基因频率比较差异无统计学意义（P> 0.05）。Fas-670基因多态性与抗CCP抗体和贫血之间存在相关性（P< 0.01和P< 0.03），但与疾病严重程度和各项临床指标之间差异无统计学意义。Fas-670 A/G和FasL-843 C/T启动子基因多态性不被认为是RA易感性和疾病严重程度的主要遗传危险因素。然而，基于这些结果，Fas-670启动子多态性可能调节抗CCP抗体的合成和类风湿关节炎患者的反应。
Objectives. Fas/FasL is significantly involved in the pathogenesis of rheumatoid arthritis (RA). Fas/FasL gene polymorphism may be associated with susceptibility to rheumatoid arthritis and disease severity.Aim. To investigate the Fas 670 G/A and FasL 843 C/T genotype and allele frequency in patients with RA, and determine its potential association with susceptibility to the disease and the clinical parameters.Methods. One hundred and one patients with RA and 105 healthy control subjects were enrolled in the study. Fas 670 A/G and FasL 843C/T genotype polymorphism was investigated by PCR-RFLP. Chi-square test was used for determining the genotype distribution and the allele incidence.Results. There was no statistically significant difference between the patients with RA and the healthy subjects with respect to Fas-670 A/G and FasL-843C/T genotype distribution and allele frequency (P> 0.05). While there was no statistically significant difference in disease severity and various clinical parameters, a correlation was detected between Fas-670 polymorphism and anti-CCP antibody and anemia (P< 0.01 and P< 0.03, respectively).Conclusions. Fas-670A/G and FasL-843C/T promoter gene polymorphisms are not considered to represent a major genetic risk factor for RA susceptibility and disease severity. However, based on these results, Fas-670 promoter polymorphism may modulate anti-CCP antibody synthesis and response in patients with rheumatoid arthritis.