T300A variant of AT16L1 gene in a cohort of Algerian Crohn disease patients

Aida, Izumi; Meddour, Yanis; Kadiri, Habiba; Smara, M.; Bousseloub, A.; Kécili, L.; Gamar, L.; Belhocine, K.; Boussafsaf, M.-A.; Debzi, N.; Aouichat-Bouguerra, S.; Chaib, Samia

doi:10.1016/j.retram.2018.01.002

Cited by 3 publications

(3 citation statements)

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“…When other clinical data (age at onset, CD location, CD behavior, UC extent, UC severity, need of therapeutic operation, anti-TNF-α therapy) were analyzed for any possible linkage with the aforementioned mutations, no significant associations were found, although such associations have been reported in the literature [7,16,17,36,37].…”

Section: Discussionmentioning

confidence: 99%

“…It has been long known that autophagy-related 16-like 1 gene ( ATG16L1 ), and especially its T300A (rs2241880) allele, is associated with susceptibility to CD but not to UC [10-12]. Nevertheless, over the years, various studies on T300A have shown a divergence from this universal susceptibility pattern and variations among different population groups have been widely reported [13-17]. Apart from the correlation between the occurrence of CD and the presence of ATG16L1 polymorphisms, strong evidence of a predisposition to certain phenotypes of T300A carriers also exists, such as ileal CD in T300A carriers [7].…”

Section: Introductionmentioning

confidence: 99%

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ATG16L1 T300A polymorphism is associated with Crohn’s disease in a Northwest Greek cohort, but ECM1 T130M and G290S polymorphisms are not associated with ulcerative colitis

Tsianos

Kostoulas

Gazouli

et al. 2019

aog

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Background:Crohn’s disease (CD) and ulcerative colitis (UC) are well-described disease entities with unknown etiopathogenesis. Environmental, genetic, gut microbiota, and host immune response correlations have been implicated. The role of susceptibility gene polymorphisms, such as ATG16L1 T300A and ECM1 T130M and G290S, is well-described, although controversial findings have been reported.Methods:Two hundred five patients with inflammatory bowel disease (108 CD and 97 UC), and 223 healthy blood donors (control group) from the Northwest Greece region were genotyped for rs2241880 (T300A), rs3737240 (T130M) and rs13294 (G290S) single nucleotide polymorphisms. Genotyping was performed using the real-time polymerase chain reaction method.Results:The frequency of G allele was significantly higher in CD patients compared to the control group (P=0.029; odds ratio [OR] 1.45, 95% confidence interval [CI] 1.04-2.03). Carriers of two G alleles (T300A), compared to those carrying only one, were 1.3 times more susceptible to CD (P=0.022; OR 2.45, 95%CI 1.14-5.27). In CD patients, the presence of the T300A polymorphism indicates a possible protective effect against developing a penetrating (B3) phenotype, while in UC patients, presence of the T300A polymorphism, indicates a possible protective effect against developing joint-involving extraintestinal manifestations.Conclusion:Our study found a significant association of the T300A polymorphism with CD susceptibility, suggesting that CD occurrence in our population has a strong genetic background, with the T300A G allele having an additive effect.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

ATG16L1 T300A polymorphism is associated with Crohn’s disease in a Northwest Greek cohort, but ECM1 T130M and G290S polymorphisms are not associated with ulcerative colitis

Tsianos

Kostoulas

Gazouli

et al. 2019

aog

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“…Autophagy-related 16 like 1 (ATG-16L1) is a protein encoded by the ATG-16L1 gene located on chromosome 2q37.1 [16]. ATG-16L1 protein is expressed in the colon, small bowel, intestinal epithelial cells, leukocytes, and spleen and constitutes an essential component of the autophagic pathway involved in autophagosome formation [18,19]. Single nucleotide polymorphisms (SNPs) in the gene encoding the ATG1 6L1 protein have been associated with an increased risk of developing CD (especially CD of the ileum) in many populations.…”

Section: Atg16l-1mentioning

confidence: 99%

Genetic polymorphisms in the pathogenesis and course of Crohn’s disease

Gocel,

Pendrasik,

Frąk

et al. 2023

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Crohn's disease is a chronic inflammatory disease that affects the full length of the digestive tract. The precise aetiology is still unknown, but genetic, environmental, and immunologic factors are involved. The aim of this article is to summarize the current susceptibility genes and gene polymorphisms involved in the disease pathogenesis and clinical course. In recent studies an association was found between FUT2, ATG16L-1, IL-10, TLR, and NOD2 gene mutations and Crohn's disease. Each of them may affect the disease at a different stage of immune response, are involved in bacterial identification, or are related to bacterial dysbiosis. We present their effect of disease susceptibility, age of onset, severity, risk of surgery, and concomitant infections. Further research in this area may prove useful in early diagnosis, prognosis, and treatment of Crohn's disease. StreszczenieChoroba Leśniowskiego-Crohna jest przewlekłą chorobą zapalną obejmującą całą długość przewodu pokarmowego. Dokładna etiologia wciąż pozostaje nieznana. W jej patogenezie bierze się pod uwagę czynniki genetyczne, środowiskowe i immunologiczne. Celem artykułu jest podsumowanie aktualnych genów podatności i polimorfizmów genetycznych biorących udział w patogenezie i przebiegu klinicznym choroby. W ostatnich badaniach stwierdzono związek między mutacjami genów FUT2, ATG16L-1, IL-10, TLR, NOD2 i chorobą Leśniowskiego-Crohna. Każda z nich może wpływać na chorobę na innym etapie odpowiedzi immunologicznej, geny te są również zaangażowane w identyfikację bakterii lub są związane z dysbiozą bakteryjną. W artykule przedstawiono ich wpływ na podatność na zachorowanie, wiek zachorowania, ciężkość, ryzyko operacji i współistniejących infekcji. Dalsze działania w tym zakresie mogą okazać się przydatne we wczesnej diagnostyce, rokowaniu i leczeniu choroby Leśniowskiego-Crohna.

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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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T300A variant of AT16L1 gene in a cohort of Algerian Crohn disease patients

Cited by 3 publications

References 40 publications

ATG16L1 T300A polymorphism is associated with Crohn’s disease in a Northwest Greek cohort, but ECM1 T130M and G290S polymorphisms are not associated with ulcerative colitis

ATG16L1 T300A polymorphism is associated with Crohn’s disease in a Northwest Greek cohort, but ECM1 T130M and G290S polymorphisms are not associated with ulcerative colitis

Genetic polymorphisms in the pathogenesis and course 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

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