Association between ATG16L1 gene polymorphism and the risk of Crohn’s disease

Abstract

ObjectiveTo perform a meta-analysis to evaluate studies investigating the association between ATG16L1 gene polymorphism and Crohn’s disease.MethodsPubMed, Embase and Web of Science databases were searched for all studies focusing on the association of ATG16L1 and Crohn’s disease. Combined odds ratios with 95% confidence intervals were calculated for four genetic models (allelic model: G allele versus A allele; additive model: GG versus AA; dominant model: GA + GG versus AA; recessive model: GG versus GA + AA) using either a random effects or fixed effects model.ResultsA total of 47 case–control studies involving 18 638 cases and 30 181 controls were included in the final meta-analysis. There was a significant association between ATG16L1 and Crohn’s disease for all four genetic models. Significant associations were also shown in subgroup analyses when stratified by study design (population- or hospital-based).ConclusionIn this meta-analysis, the ATG16L1 genotype was significantly associated with the risk of developing Crohn’s disease.

ATG16L1 rs2241880/T300A increases susceptibility to perianal Crohn's disease: An updated meta‐analysis on inflammatory bowel disease risk and clinical outcomes

“…As one of the first identified susceptibility loci from GWAS studies, ATG16L1 rs2241880 has since provided conflicting evidence over its inclusion and applicability in the molecular profile of IBD susceptibility. To the best of the authors' knowledge, the last meta‐analysis conducted on this topic was in 2017, 17 and since then several more studies have been reported including those in understudied or minority populations, contributing to the growing literature on the impact of rs2241880 in the pathogenesis of IBD. Thus, we sought to provide an updated, comprehensive meta‐analysis of the available literature on ATG16L1 rs2241880 on IBD susceptibility.…”

“…[12][13][14] Consequently, autophagy, one of the principal mechanisms by which the host can maintain intestinal homeostasis, both immunologically and microbially, is defective and potentially contributes to IBD pathogenesis. 15 Previous meta-analyses 16,17 have been published on the matter; however, these have generally only focussed on an association with CD susceptibility. What we present here, thus, is the most comprehensive meta-analysis to date on the association of ATG16L1 rs2241880 and IBD, including both CD and UC, determining any relevant demographic susceptibility patterns based on age (paediatric vs. adult), ethnicity (Caucasian, East Asian, South Asian, Middle Eastern, Latin American), and geographical origin (Northern Europe, presence of perianal disease and presence of extraintestinal manifestations (EIM).…”

“…Previous meta‐analyses 16 , 17 have been published on the matter; however, these have generally only focussed on an association with CD susceptibility. What we present here, thus, is the most comprehensive meta‐analysis to date on the association of ATG16L1 rs2241880 and IBD, including both CD and UC, determining any relevant demographic susceptibility patterns based on age (paediatric vs. adult), ethnicity (Caucasian, East Asian, South Asian, Middle Eastern, Latin American), and geographical origin (Northern Europe, Eastern Europe, Southern Europe, Western Europe, North America, South America, Oceania, Middle East, East Asia, South Asia).…”

Effects of Herb-Partitioned Moxibustion on Autophagy and Immune Activity in the Colon Tissue of Rats with Crohn’s Disease

“…e ATG16L1 gene is mainly expressed in the colon, small intestine, intestinal epithelial cells, and lymphocytes, and its encoded protein can participate in the metabolism of intracellular autophagosomes and the immune response induced by intracellular pathogens [24]. e single-nucleotide polymorphisms site in the ATG16L1 gene is highly correlated with CD and is an important risk factor for the pathogenesis of CD [25,26] that can affect intestinal microbes and aggravate the local intestinal inflammatory response in CD [27]. ATG16L1 can also regulate the Nod-dependent cytokine immune response.…”

Multi-omics in Crohn's disease: New insights from inside

“…The polymorphisms of substantial genes such as ATG16L1 , IL-23R gene and fucosyltransferase 2 gene are identified to be relevant to the susceptibility to CD, attributing the success to the massive meta-analyses of CD genome-wide association studies [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] , [31] . Several GWAS studies have demonstrated that SNPs in the immunity-related GTPase family M ( IRGM ) and the deletion polymorphism of the IRGM promoter region are closely related to CD.…”