Baradaran Ghavami Shaghayegh, Kabiri Fateme, Nourian Mahyar, Balaii Hedieh, Shahrokh Shabnam, Chaleshi Vahid, Sherkat Ghazal, Shalileh Farzaneh, Asadzadeh Aghdaei Hamid
Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Gastroenterol Hepatol Bed Bench. 2019;12(Suppl1):S94-S100.
In the present study, two main variants of ATG16L1 gene, rs2241880 T300A and rs2241879 C/T, were evaluated in IBD patients as well as in remission and flareup phase across an Iranian population for the first time.
Inflammatory bowel disease (IBD) has found increasing global incidence and prevalence in recent years especially among pediatrics. ATG16L1 is the major gene that regulates autophagy pathway. The autophagy pathway also affects dysbiosis.
Genomic DNA was isolated from peripheral blood samples following salting out extraction method. The genotypes of ATG16L1 polymorphisms rs2241880 T300A and rs2241879 C/T were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.
In this case control study, a total of 101 IBD patients (75 ulcerative colitis (UC) and 26 Crohn's disease (CD)) and 99 healthy controls were evaluated. In the present study, a significant association was found between rs2241879 single nucleotide polymorphism on ATG16L1 gene and increased risk of IBD among an Iranian population (P=0.01). There was no statistically significant relationship between rs2241880 and IBD risk (P= 0.42). The effect on these two variants was investigated in relapse and flareup phase which was not significant either, but in CD, rs2241879 and rs2241880 were difference in the relapse phase.
The results showed that ATG16L1 gene rs2241879 has a significant relationship with increased risk of IBD among an Iranian population. Individuals with C allele showed a significant relationship with 1.68-fold increased risk of IBD (P=0.01; adjusted OR=1.68; 95% CI=1.13-2.50).
在本研究中，首次在伊朗人群的炎症性肠病（IBD）患者以及缓解期和发作期患者中评估自噬相关基因16样蛋白1（ATG16L1）基因的两个主要变体，即rs2241880 T300A和rs2241879 C/T。
近年来，炎症性肠病（IBD）在全球的发病率和患病率不断上升，尤其是在儿科患者中。ATG16L1是调节自噬途径的主要基因。自噬途径也会影响肠道菌群失调。
采用盐析提取法从外周血样本中分离基因组DNA。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法测定ATG16L1基因多态性rs2241880 T300A和rs2241879 C/T的基因型。
在这项病例对照研究中，共评估了101例IBD患者（75例溃疡性结肠炎（UC）和26例克罗恩病（CD））和99例健康对照。在本研究中，发现ATG16L1基因上的rs2241879单核苷酸多态性与伊朗人群中IBD风险增加之间存在显著关联（P=0.01）。rs2241880与IBD风险之间无统计学显著关系（P=0.42）。在复发期和发作期对这两个变体的影响进行了研究，结果也不显著，但在CD中，rs2241879和rs2241880在复发期存在差异。
结果表明，ATG16L1基因rs2241879与伊朗人群中IBD风险增加存在显著关系。携带C等位基因的个体与IBD风险增加1.68倍存在显著关系（P=0.01；校正OR=1.68；95%CI=1.13-2.50）。
