Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, İstanbul University, İstanbul, Turkey.
Department of Gastroenterology, Ümraniye Training and Research Hospital, İstanbul, Turkey.
Turk J Gastroenterol. 2020 May;31(5):356-361. doi: 10.5152/tjg.2020.19436.
BACKGROUND/AIMS: The analysis of genes thought to be important in inflammatory bowel disease (IBD) has shown that more than half of IBD-related genes are also associated with other autoimmune diseases. The aim of this study was to detect a possible association between the polymorphisms of the (-670 A/G, -1377 G/A) fFas cell surface death receptor (FAS) gene promoter and susceptibility to IBD in the Turkish population.
In total, 125 patients with IBD, including 73 ulcerative colitis and 52 Crohn's disease and also 101 healthy controls without any pathological signs of IBD were considered for the study. Real-time polymerase chain reaction technique was used to detect FAS polymorphisms in this study.
The analysis of FAS -670 A/G polymorphism indicated that the frequency of GG genotype was significantly increased in patients compared with controls (p<0.001). Additionally, AG genotype (p<0.001) and A allele (p<0.001) frequencies were higher in controls than in patients. The analysis of FAS -1377 G/A polymorphism revealed that the frequency of AA genotype was meaningfully increased in patients compared with controls (p<0.001). Additionally, GG genotype (p<0.001) and G allele (p<0.001) frequencies were increased in controls when compared with patients.
FAS -670A/G GG genotype seemed to be a protective allele against IBD; however, AA genotype and A allele were associated with elevated risk of IBD. In the FAS -1377G/A polymorphism, frequencies of the G allele and GG genotype were observed to be protective against IBD, whereas AA, GA genotypes, and A allele frequency increased in the patient group.
背景/目的：对被认为与炎症性肠病（IBD）相关的基因进行分析表明，超过一半的 IBD 相关基因也与其他自身免疫性疾病相关。本研究旨在检测土耳其人群中细胞表面死亡受体（FAS）基因启动子的（-670 A/G、-1377 G/A）多态性与 IBD 易感性之间的可能关联。
共纳入 125 例 IBD 患者，包括 73 例溃疡性结肠炎和 52 例克罗恩病，以及 101 例无任何 IBD 病理迹象的健康对照者。本研究采用实时聚合酶链反应技术检测 FAS 多态性。
FAS-670A/G 多态性分析表明，与对照组相比，患者中 GG 基因型的频率显著增加（p<0.001）。此外，AG 基因型（p<0.001）和 A 等位基因（p<0.001）在对照组中的频率高于患者。FAS-1377G/A 多态性分析显示，与对照组相比，患者中 AA 基因型的频率显著增加（p<0.001）。此外，与患者相比，对照组中 GG 基因型（p<0.001）和 G 等位基因（p<0.001）的频率增加。
FAS-670A/G GG 基因型似乎是 IBD 的保护性等位基因；然而，AA 基因型和 A 等位基因与 IBD 的风险增加相关。在 FAS-1377G/A 多态性中，G 等位基因和 GG 基因型的频率被观察到对 IBD 具有保护作用，而 AA、GA 基因型和 A 等位基因的频率在患者组中增加。
