Association between variants of the autophagy related gene ATG16L1 in inflammatory bowel diseases and clinical statues

In the present study, two main variants of ATG16L1 gene, rs2241880 T300A and rs2241879 C/T were evaluated in IBD patients and in remission and flare up phase between Iranian population for the first time.

Inflammatory bowel disease (IBD) has increased a global incidence and prevalence in recently years the world and especially in pediatric. ATG16L1 is the major gene that regulates autophagy pathway. Autophagy pathway also effects on dybiosis.

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 between Iranian population (P=0.01). There was no statistically significant relationship between rs2241880 and IBD risk (P= 0.42). Also,the effect on these two variants was investigated in relapse and flare up phase and it was not significant, but in CD, rs2241879 and rs2241880 were a trend for a difference in relapse phase.

The results showed that ATG16L1 gene rs2241879 has significant relationship with increased risk of IBD between 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).*Corresponding Author: Hamid Asadzadeh Aghdaei, Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Tel: +98-2122432525, Fax: +98-2122432514, E-mail: hamid.assadzadeh@gmail.com     Abstract

Inflammatory bowel disease (IBD) is on the increase in the world and the number of pediatric cases is increasing.  ATG16L1 is the major gene that regulates autophagy pathway. Autophagy pathway also effects on gut microbiota. In the present study, two main variants of ATG16L1 gene, rs2241880 T300A and rs2241879 C/T were evaluated in IBD patients and in remission and flare up phase between Iranian population for the first time.

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 (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 risk of IBD in Iranian population (P=0.01). There was no statistically significant relationship between rs2241880 and IBD risk (P= 0.42). The effect of these two variants was investigated in relapse and flare up phase and it was not significant, but in CD, rs2241879 and rs2241880 were a trend for a difference in relapse phase.

The results showed that ATG16L1 gene rs2241879 has significant relationship with increased risk of IBD in Iranian diseases status. 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). Key words: Autophagy, ATG16L1, inflammatory bowel disease (IBD), diseases status.