Genetic Polymorphisms in Autophagy‐Associated Genes in Korean Children With Early‐Onset Crohn Disease

Na, So Young; Park, Sung Sup; Seo, Jeong Kee

doi:10.1097/mpg.0000000000000796

Cited by 9 publications

(1 citation statement)

References 48 publications

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“…A total of 843 potentially relevant articles were initially identified. After exclusion of duplicate studies and application of the inclusion criteria, a total of 44 articles 12 – 55 were included in the qualitative synthesis ( Figure 1 ). Büning et al.…”

Section: Resultsmentioning

confidence: 99%

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

Zhang

Yang

et al. 2016

J Int Med Res

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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.

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Section: Resultsmentioning

confidence: 99%

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

Zhang

Yang

et al. 2016

J Int Med Res

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

Simovic,

Hilmi,

et al. 2023

UEG Journal

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BackgroundATG16L1 plays a fundamental role in the degradative intracellular pathway known as autophagy, being a mediator of inflammation and microbial homeostasis. The variant rs2241880 can diminish these capabilities, potentially contributing to inflammatory bowel disease (IBD) pathogenesis.ObjectivesTo perform an updated meta‐analysis on the association between ATG16L1 rs2241880 and IBD susceptibility by exploring the impact of age, ethnicity, and geography. Moreover, to investigate the association between rs2241880 and clinical features.MethodsLiterature searches up until September 2022 across 7 electronic public databases were performed for all case‐control studies on ATG16L1 rs2241880 and IBD. Pooled odds ratios (ORP) and 95% CI were calculated under the random effects model.ResultsOur analyses included a total of 30,606 IBD patients, comprising 21,270 Crohn's disease (CD) and 9336 ulcerative colitis (UC) patients, and 33,329 controls. ATG16L1 rs2241880 was significantly associated with CD susceptibility, where the A allele was protective (ORP: 0.74, 95% CI: 0.72–0.77, p‐value: <0.001), while the G allele was a risk factor (ORP: 1.23, 95% CI: 1.09–1.39, p‐value: 0.001), depending on the minor allele frequencies observed in this multi‐ancestry study sample. rs2241880 was predominantly relevant in Caucasians from North America and Europe, and in Latin American populations. Importantly, CD patients harbouring the G allele were significantly more predisposed to perianal disease (ORP: 1.21, 95% CI: 1.07–1.38, p‐value: 0.003).ConclusionsATG16L1 rs2241880 (G allele) is a consistent risk factor for IBD in Caucasian cohorts and influences clinical outcomes. As its role in non‐Caucasian populations remains ambiguous, further studies in under‐reported populations are necessary.

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Immunity-related GTPase IRGM at the intersection of autophagy, inflammation, and tumorigenesis

2022

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The human immunity-related GTPase M (IRGM) is a GTP-binding protein that regulates selective autophagy including xenophagy and mitophagy. IRGM impacts autophagy by (1) affecting mitochondrial fusion and fission, (2) promoting the co-assembly of ULK1 and Beclin 1, (3) enhancing Beclin 1 interacting partners (AMBRA1, ATG14L1, and UVRAG), (4) interacting with other key proteins (ATG16L1, p62, NOD2, cGAS, TLR3, and RIG-I), and (5) regulating lysosomal biogenesis. IRGM also negatively regulates NLRP3 inflammasome formation and therefore, maturation of the important pro-inflammatory cytokine IL-1β, impacting inflammation and pyroptosis. Ultimately, this affords protection against chronic inflammatory diseases. Importantly, ten IRGM polymorphisms (rs4859843, rs4859846, rs4958842, rs4958847, rs1000113, rs10051924, rs10065172, rs11747270, rs13361189, and rs72553867) have been associated with human inflammatory disorders including cancer, which suggests that these genetic variants are functionally relevant to the autophagic and inflammatory responses. The current review contextualizes IRGM, its modulation of autophagy, and inflammation, and emphasizes the role of IRGM as a cross point of immunity and tumorigenesis.

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Genetic Polymorphisms in Autophagy‐Associated Genes in Korean Children With Early‐Onset Crohn Disease

Abstract: IRGM rs1000113 and IRGM rs72553867 exhibited associations with early-onset CD as risk loci and defense loci, respectively. This suggests that the autophagy pathway plays an important role in early-onset CD.

Cited by 9 publications

References 48 publications

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

Association between ATG16L1 gene polymorphism and the risk of 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

Immunity-related GTPase IRGM at the intersection of autophagy, inflammation, and tumorigenesis

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