Kobak Ş, Berdeli A
Department of Rheumatology, S˛ ifa University, Izmir, Turkey.
Reumatismo. 2012 Dec 20;64(6):374-9. doi: 10.4081/reumatismo.2012.374.
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.
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.
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.
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).
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.
Fas/FasL 显著参与类风湿关节炎（RA）的发病机制。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。
研究 RA 患者中 Fas 670 G/A 和 FasL 843 C/T 基因型及等位基因频率，并确定其与疾病易感性及临床参数的潜在关联。
本研究纳入 101 例 RA 患者和 105 例健康对照者。采用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）法检测 Fas 670 A/G 和 FasL 843C/T 基因型多态性。采用卡方检验确定基因型分布及等位基因发生率。
RA 患者与健康受试者在 Fas - 670 A/G 和 FasL - 843C/T 基因型分布及等位基因频率方面无统计学显著差异（P>0.05）。虽然在疾病严重程度及各项临床参数方面无统计学显著差异，但检测到 Fas - 670 多态性与抗环瓜氨酸肽（CCP）抗体及贫血之间存在相关性（分别为 P<0.01 和 P<0.03）。
Fas - 670A/G 和 FasL - 843C/T 启动子基因多态性不被认为是 RA 易感性及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类风湿关节炎患者抗 CCP 抗体的合成及反应。
