Role of ATG16L1 Thr300Ala polymorphism in inflammatory bowel disease: A study in the spanish population and a meta-analysis

Inflammatory Bowel Diseases

Volumn 15, Issue 11, 2009, Pages 1697-1704

  Márquez, Ana ^a   Núñez, Concepción ^a   Martínez, Alfonso ^a   Mendoza, Juan Luis ^a   Taxonera, Carlos ^a   Fernández Arquero, Miguel ^a   Díaz Rubio, Manuel ^a   De La Concha, Emilio G ^a   Urcelay, Elena ^a  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

Author keywords

ATG16L1; Genetic susceptibility; Inflammatory bowel disease; Polymorphisms

Indexed keywords

ALANINE; AUTOPHAGY RELATED 16 LIKE 1 PROTEIN; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CELL PROTEIN; INTERLEUKIN 23 RECEPTOR; THREONINE; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CROHN DISEASE; ENTERITIS; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; ULCERATIVE COLITIS;

CARRIER PROTEINS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFLAMMATORY BOWEL DISEASES; POLYMORPHISM, GENETIC; SPAIN;

EID: 72549117022     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1002/ibd.21001     Document Type: Article

References (38)

1. Halme L, Paavola-Sakki P, Turunen U, et al. Family and twin studies in inflammatory bowel disease. World J Gastroenterol. 2006;12:3668-3672.
2. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411:599-603.
3. Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 2001;411:603-606. (Pubitemid 32531409)
4. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447:661-678.
5. Duerr RH, Taylor KD, Brant SR, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science. 2006;314:1461-1463.
6. Fisher SA, Tremelling M, Anderson CA, et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet. 2008;40:710-712. (Pubitemid 351748865)
7. Franke A, Balschun T, Karlsen TH, et al. Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet. 2008;40:713-715. (Pubitemid 351748866)
8. Hampe J, Franke A, Rosenstiel P, et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet. 2007;39:207-211. (Pubitemid 46184351)
9. Libioulle C, Louis E, Hansoul S, et al. Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet. 2007;3:e58.
10. Parkes M, Barrett JC, Prescott NJ, et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet. 2007;39:830-832. (Pubitemid 47014496)
11. Raelson JV, Little RD, Ruether A, et al. Genome-wide association study for Crohn's disease in the Quebec founder population identifies multiple validated disease loci. Proc Natl Acad Sci U S A. 2007;104:14747-14752. (Pubitemid 350003214)
12. Rioux JD, Xavier RJ, Taylor KD, et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet. 2007;39:596-604.
13. Xavier RJ, Huett A, Rioux JD. Autophagy as an important process in gut homeostasis and Crohn's disease pathogenesis. Gut. 2008;57:717-720. (Pubitemid 351716957)
14. Deretic V. Autophagy in innate and adaptive immunity. Trends Immunol. 2005;26:523-528.
15. Kuballa P, Huett A, Rioux JD, et al. Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant. PLoS ONE. 2008;3:e3391.
16. Baptista ML, Amarante H, Picheth G, et al. CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population. Inflamm Bowel Dis. 2008;14:674-679. (Pubitemid 351742985)
17. Cummings JR, Cooney R, Pathan S, et al. Confirmation of the role of ATG16L1 as a Crohn's disease susceptibility gene. Inflamm Bowel Dis. 2007;13:941-946.
18. Fowler EV, Doecke J, Simms LA, et al. ATG16L1 T300A shows strong associations with disease subgroups in a large Australian IBD population: further support for significant disease heterogeneity. Am J Gastroenterol. 2008;103:2519-2526.
19. Glas J, Konrad A, Schmechel S, et al. The ATG16L1 gene variants rs2241879 and rs2241880 (T300A) are strongly associated with susceptibility to Crohn's disease in the German population. Am J Gastroenterol. 2008;103:682-691.
20. Lakatos PL, Szamosi T, Szilvasi A, et al. ATG16L1 and IL23 receptor (IL23R) genes are associated with disease susceptibility in Hungarian CD patients. Dig Liver Dis. 2008;40:867-873.
21. Lappalainen M, Halme L, Turunen U, et al. Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population. Inflamm Bowel Dis. 2008;14:1118-1124.
22. Latiano A, Palmieri O, Valvano MR, et al. Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy. World J Gastroenterol. 2008;14:4643-4651.
23. Okazaki T, Wang MH, Rawsthorne P, et al. Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohn's disease risk in a population-based case-control study: evidence of gene-gene interactions. Inflamm Bowel Dis. 2008;14:1528-1541.
24. Perricone C, Borgiani P, Romano S, et al. ATG16L1 Ala197Thr is not associated with susceptibility to Crohn's disease or with phenotype in an Italian population. Gastroenterology. 2008;134:368-370. (Pubitemid 350309338)
25. Prescott NJ, Fisher SA, Franke A, et al. A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5. Gastroenterology. 2007;132:1665-1671. (Pubitemid 46677945)
26. Roberts RL, Gearry RB, Hollis-Moffatt JE, et al. IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease. Am J Gastroenterol. 2007;102:2754-2761.
27. Van Limbergen J, Russell RK, Nimmo ER, et al. Autophagy gene ATG16L1 influences susceptibility and disease location but not childhood-onset in Crohn's disease in northern Europe. Inflamm Bowel Dis. 2008;14:338-346.
28. Weersma RK, Zhernakova A, Nolte IM, et al. ATG16L1 and IL23R are associated with inflammatory bowel diseases but not with celiac disease in the Netherlands. Am J Gastroenterol. 2008;103:621-627.
29. Newman WG, Zhang Q, Liu X, et al. Genetic variants in IL-23R and ATG16L1 independently predispose to increased susceptibility to Crohn's disease in a Canadian population. J Clin Gastroenterol. 2009 (in press).
30. Weersma RK, Stokkers PC, van Bodegraven AA, et al. Molecular prediction of disease risk and severity in a large Dutch Crohn's disease cohort. Gut. 2009;58:388-395.
31. Weersma RK, Stokkers PC, Cleynen I, et al. Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. Am J Gastroenterol. 2009;104:630-638.
32. Cadwell K, Liu JY, Brown SL, et al. A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells. Nature. 2008;456:259-263.
33. Saitoh T, Fujita N, Jang MH, et al. Loss of the autophagy protein Atg16L1 enhances endotoxin-induced IL-1beta production. Nature. 2008;456:264-268.
34. Lennard-Jones JE. Classification of inflammatory bowel disease. Scand J Gastroenterol Suppl. 1989;170:2-6; discussion 16-19.
35. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
36. Yamazaki K, Onouchi Y, Takazoe M, et al. Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. J Hum Genet. 2007;52:575-583. (Pubitemid 47012531)
37. McCarroll SA, Huett A, Kuballa P, et al. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet. 2008;40:1107-1112.
38. Massey DC, Bredin F, Parkes M. Use of sirolimus (rapamycin) to treat refractory Crohn's disease. Gut. 2008;57:1294-1296.