Distinct and overlapping genetic loci in crohn's disease and ulcerative colitis: Correlations with pathogenesis

Inflammatory Bowel Diseases

Volumn 17, Issue 9, 2011, Pages 1936-1942

  Waterman, Matti ^a   Xu, Wei ^b   Stempak, Joanne M ^a   Milgrom, Raquel ^a   Bernstein, Charles N ^c   Griffiths, Anne M ^d,e   Greenberg, Gordon R ^a,d   Steinhart, A Hillary ^a,d   Silverberg, Mark S ^a,d  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF MANITOBA   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

colon only CD; Crohn's disease; genotypic overlap; IBD immunopathogenesis; ulcerative colitis

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; CHEMOKINE RECEPTOR CCR6; INTERLEUKIN 12P40; INTERLEUKIN 22; INTERLEUKIN 23; INTERLEUKIN 23 RECEPTOR; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 2; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; PROTEIN CCNY; PROTEIN IRGM; PROTEIN MST1; PROTEIN PSMG1; PROTEIN ZNF365; STAT3 PROTEIN; UNCLASSIFIED DRUG;

ADAPTIVE IMMUNITY; ADOLESCENT; ADULT; AGED; ARTICLE; AUTOPHAGY; CHILD; CHROMOSOME 10P; CHROMOSOME 10Q; CHROMOSOME 12Q; CHROMOSOME 16Q; CHROMOSOME 17Q; CHROMOSOME 18P; CHROMOSOME 1P; CHROMOSOME 20Q; CHROMOSOME 21Q; CHROMOSOME 2Q; CHROMOSOME 3P; CHROMOSOME 5Q; CHROMOSOME 6P; CHROMOSOME 6Q; CHROMOSOME 9Q; COHORT ANALYSIS; COLON CROHN DISEASE; CONTROLLED STUDY; CROHN DISEASE; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; ILEAL CROHN DISEASE; IMMUNOPATHOGENESIS; MAJOR CLINICAL STUDY; MALE; OPEN READING FRAME; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TH17 CELL; ULCERATIVE COLITIS;

ADOLESCENT; ADULT; AGED; BIOLOGICAL MARKERS; CANADA; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; COHORT STUDIES; COLITIS, ULCERATIVE; CROHN DISEASE; DNA; FEMALE; GENE FREQUENCY; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; YOUNG ADULT;

EID: 80051483002     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1002/ibd.21579     Document Type: Article

References (43)

1. Podolsky DK,. Inflammatory bowel disease. N Engl J Med. 2002; 347: 417-429. (Pubitemid 34851835)
2. Peyrin-Biroulet L, Loftus EV Jr, Colombel JF, et al. The natural history of adult Crohn's disease in population-based cohorts. Am J Gastroenterol. 2010; 105: 289-297.
3. Gumaste V, Sachar DB, Greenstein AJ,. Benign and malignant colorectal strictures in ulcerative colitis. Gut. 1992; 33: 938-941.
4. Froines EJ, Palmer DL,. Surgical therapy for rectovaginal fistulas in ulcerative colitis. Dis Colon Rectum. 1991; 34: 925-930.
5. Shih DQ, Targan SR,. Immunopathogenesis of inflammatory bowel disease. World J Gastroenterol. 2008; 14: 390-400. (Pubitemid 351320847)
6. Cho JH,. The genetics and immunopathogenesis of inflammatory bowel disease. Nat Rev Immunol. 2008; 8: 458-466. (Pubitemid 351733422)
7. 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. (Pubitemid 32531408)
8. 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)
9. Abraham C, Cho JH,. Functional consequences of NOD2 (CARD15) mutations. Inflamm Bowel Dis. 2006; 12: 641-650. (Pubitemid 43977746)
10. 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. (Pubitemid 47309964)
11. 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)
12. 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)
13. Silverberg MS, Cho JH, Rioux JD, et al. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. Nat Genet. 2009; 41: 216-220.
14. Goyette P, Lefebvre C, Ng A, et al. Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis. Mucosal Immunol. 2008; 1: 131-138.
15. Silverberg MS, Satsangi J, Ahmad T, et al. Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol. 2005; 19 (suppl A): 5-36.
16. Orholm M, Munkholm P, Langholz E, et al. Familial occurrence of inflammatory bowel disease. N Engl J Med. 1991; 324: 84-88.
17. Holtmann MH, Krummenauer F, Claas C, et al. Long-term effectiveness of azathioprine in IBD beyond 4 years: a European multicenter study in 1176 patients. Dig Dis Sci. 2006; 51: 1516-1524. (Pubitemid 44379292)
18. Behm BW, Bickston SJ,. Efficacy of infliximab for luminal and fistulizing Crohn's disease and in ulcerative colitis. Curr Treat Options Gastroenterol. 2007; 10: 171-177. (Pubitemid 46938926)
19. Bridger S, Lee JC, Bjarnason I, et al. In siblings with similar genetic susceptibility for inflammatory bowel disease, smokers tend to develop Crohn's disease and non-smokers develop ulcerative colitis. Gut. 2002; 51: 21-25. (Pubitemid 34717738)
20. Imielinski M, Baldassano RN, Griffiths A, et al. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet. 2009; 41: 1335-1340.
21. Kugathasan S, Baldassano RN, Bradfield JP, et al. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet. 2008; 40: 1211-1215.
22. Barrett JC, Hansoul S, Nicolae DL, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet. 2008; 40: 955-962.
23. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007; 81: 559-575. (Pubitemid 47330214)
24. Freidlin B, Zheng G, Li Z, et al. Trend tests for case-control studies of genetic markers: power, sample size and robustness. Hum Hered. 2002; 53: 146-152.
25. Sarra M, Pallone F, Macdonald TT, et al. IL-23/IL-17 axis in IBD. Inflamm Bowel Dis. 2010; 16: 1808-1813.
26. 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; 43: 444-447.
27. Márquez A, Mendoza JL, Taxonera C, et al. IL23R and IL12B polymorphisms in Spanish IBD patients: no evidence of interaction. Inflamm Bowel Dis. 2008; 14: 1192-1196.
28. Anderson CA, Massey DC, Barrett JC, et al. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. Gastroenterology. 2009; 136: 523-529.
29. Franke A, Balschun T, Sina C, et al. Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nat Genet. 2010; 42: 292-294.
30. Liu ZJ, Yadav PK, Su JL, et al. Potential role of Th17 cells in the pathogenesis of inflammatory bowel disease. World J Gastroenterol. 2009; 15: 5784-5788.
31. Shih DQ, Targan SR,. Insights into IBD pathogenesis. Curr Gastroenterol Rep. 2009; 11: 473-480.
32. Brand S,. Crohn's disease: Th1, Th17 or both? The change of a paradigm: new immunological and genetic insights implicate Th17 cells in the pathogenesis of Crohn's disease. Gut. 2009; 58: 1152-1167.
33. Lees CW, Satsangi J,. Genetics of inflammatory bowel disease: implications for disease pathogenesis and natural history. Expert Rev Gastroenterol Hepatol. 2009; 3: 513-534.
34. 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)
35. 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.
36. Palomino-Morales RJ, Oliver J, Gómez-García M, et al. Association of ATG16L1 and IRGM genes polymorphisms with inflammatory bowel disease: a meta-analysis approach. Genes Immun. 2009; 10: 356-364.
37. Hancock L, Beckly J, Geremia A, et al. Clinical and molecular characteristics of isolated colonic Crohn's disease. Inflamm Bowel Dis. 2008; 14: 1667-1677.
38. Cuthbert AP, Fisher SA, Mirza MM, et al. The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology. 2002; 122: 867-874. (Pubitemid 34267268)
39. Lesage S, Zouali H, Cézard JP, et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet. 2002; 70: 845-857. (Pubitemid 34259301)
40. Meinzer U, Ideström M, Alberti C, et al. Ileal involvement is age dependent in pediatric Crohn's disease. Inflamm Bowel Dis. 2005; 11: 639-644. (Pubitemid 40961077)
41. Radford-Smith G, Pandeya N,. Associations between NOD2/CARD15 genotype and phenotype in Crohn's disease - are we there yet? World J Gastroenterol. 2006; 12: 7097-7103. (Pubitemid 44890637)
42. Silverberg MS, Mirea L, Bull SB, et al. A population- and family-based study of Canadian families reveals association of HLA DRB1*0103 with colonic involvement in inflammatory bowel disease. Inflamm Bowel Dis. 2003; 9: 1-9. (Pubitemid 36124242)
43. Ahmad T, Armuzzi A, Bunce M, et al. The molecular classification of the clinical manifestations of Crohn's disease. Gastroenterology. 2002; 122: 854-866. (Pubitemid 34267267)