评价 Fas（CD95）和 FasL（CD178）凋亡相关基因多态性在伊朗类风湿关节炎患者中的作用。
Evaluation of apoptosis-related gene Fas (CD95) and FasL (CD178) polymorphisms in Iranian rheumatoid arthritis patients.
机构信息
Immunology Department, Faculty of Medical Sciences, Tarbiat Modares University, PO Box: 14155-111 Tehran, Iran.
出版信息
Rheumatol Int. 2012 Sep;32(9):2833-6. doi: 10.1007/s00296-011-2065-x. Epub 2011 Aug 31.
Apoptosis signals are essential for establishing homeostasis and adequate immune response. Dysregulation of apoptosis-related genes in the immune system, which could be due to gene polymorphisms, conduct to autoimmune diseases including rheumatoid arthritis. In the current study, the apoptosis-related gene Fas_-670A>G, FasL_844C>T, and FasLIVS2nt_124A>G polymorphisms were genotyped in 120 Iranian patients with rheumatoid arthritis (RA) and 112 unrelated healthy controls using PCR-RFLP method. Among the 120 RA patients being heterozygous in the promoter region of Fas_-670A/G (OR 1.42,CI 0.92-1.52, P = 0.18) and FasL_-844C/T (OR 1.42, CI 0.92-1.52, P = 0.18) and homozygous in the minor allele for FasLIVS2nt_124G/G (OR 1.43, CI 0.76-1.81, P = 0.7), the frequency of these polymorphisms is higher in the cases than in controls and the elevated risk of RA were observed when the patient compared with controls, although this is not statistically significant.
凋亡信号对于维持体内平衡和适当的免疫反应至关重要。免疫系统中与凋亡相关的基因发生失调，这可能是由于基因多态性引起的，导致包括类风湿关节炎在内的自身免疫性疾病。在本研究中，采用 PCR-RFLP 方法对 120 例伊朗类风湿关节炎（RA）患者和 112 名无关健康对照者的凋亡相关基因 Fas_-670A>G、FasL_844C>T 和 FasLIVS2nt_124A>G 多态性进行了基因分型。在 Fas_-670A/G（OR 1.42，CI 0.92-1.52，P = 0.18）和 FasL_-844C/T（OR 1.42，CI 0.92-1.52，P = 0.18）启动子区域杂合子和 FasLIVS2nt_124G/G 纯合子（OR 1.43，CI 0.76-1.81，P = 0.7）的 120 例 RA 患者中，这些多态性在病例中的频率高于对照组，与对照组相比，RA 患者的患病风险升高，但这并不具有统计学意义。
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