Pediatric onset crohn's colitis is characterized by genotype-dependent age-related susceptibility

Inflammatory Bowel Diseases

Volumn 13, Issue 12, 2007, Pages 1509-1515

  Levine, Arie ^a,d   Kugathasan, Subra ^b   Annese, Vito ^c   Biank, Vincent ^b   Leshinsky Silver, Esther ^d   Davidovich, Ofir ^a   Kimmel, Gad ^a   Shamir, Ron ^a   Orazio, Palmieri ^c   Karban, Amir ^e   Broeckel, Ulrich ^b   Cucchiara, Salvatore ^f  

^a TEL AVIV UNIVERSITY   (Israel)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d WOLFSON MEDICAL CENTER   (Israel)

^e RAMBAM MEDICAL CENTER   (Israel)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Child; Colitis; Crohn's disease; Genes; Inflammatory bowel disease; NOD2; Phenotype

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15;

ADULT; AGING; ARTICLE; COHORT ANALYSIS; COLITIS; CONFIDENCE INTERVAL; CONTROLLED STUDY; CROHN DISEASE; DISEASE PREDISPOSITION; FEMALE; GENE FREQUENCY; GENE MUTATION; HUMAN; ILEITIS; ILEOCOLITIS; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RISK;

ADOLESCENT; CHILD; CROHN DISEASE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; NOD2 SIGNALING ADAPTOR PROTEIN; POLYMORPHISM, GENETIC; TIME FACTORS;

EID: 38049058330     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1002/ibd.20244     Document Type: Article

References (31)

1. Hanauer S. Epidemiology, pathogenesis and treatment of IBD. Inflamm Bowel Dis. 2006;(12 suppl 1):S3-9.
2. Kim SC, Ferry GD. Inflammatory bowel disease in pediatric and adolescent patient: clinical, therapeutic and psychological considerations. Gastroenterology. 2004;126:1550-1560.
3. Mamula P, Telega GW, Markowitz JE, et al. Inflammatory bowel disease in children 5 years of age and younger. Am J Gastroenterol. 2002;97:2005-2010.
4. Heyman MB, Kirschner BS, Gold BD, et al. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. J Pediatr. 2005;146:35-40.
5. Levine A, Karban A, Eliakim R, et al. A polymorphism in the TNF-alpha promoter gene is associated with pediatric onset and colonic location of Crohn's disease. Am J Gastroenterol. 2005;100:407-413.
6. Sawczenko A, Sandhu BK. Presenting features of inflammatory bowel disease in Great Britain and Ireland. Arch Dis Child. 2003;88:995-1000.
7. Meinzer U, Idestrom M, Alberti C, et al. Ileal involvement is age dependent in pediatric Crohn's disease. Inflamm Bowel Dis. 2005;11:639-644.
8. Babuskumar U, Wang T, McGuire E, et al. Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease. Am J Gastroenterol. 2006;101:1354-1361.
9. 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.
10. 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.
11. Hampe J, Cuthbert A, Croucher PJ, et al. Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. Lancet. 2001;357:1925-1928.
12. Inohara N, Ogura Y, Fontalba A, et al. Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease. J Biol Chem. 2003;278:5509-5512.
13. Bonen DK, Ogura Y, Nicolae DL, et al. Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. Gastroenterology. 2003;124:140-146.
14. Lesage S, Zouali H, Cezard JP, et al., EPWG-IBD Group, EPIMAD Group, GETAID Group. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet. 2002;70:845-857.
15. Ahmad T, Armuzzi A, Bunce M, et al. The molecular classification of the clinical manifestations of Crohn's disease. Gastroenterology. 2002;122:854-866.
16. 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.
17. Bonen D, Cho J. The genetics of inflammatory bowel disease. Gastroenterology. 2003;124:521-536.
18. Brant SR, Picco MF, Achkar JP, et al. Defining complex contributions of NOD2/CARD15 gene mutations, age at onset, and tobacco use on Crohn's disease phenotypes. Inflamm Bowel Dis. 2003;9:281-289.
19. Vermeiere S, Pierik M, Hlavaty T, et al. Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD. Gastroenterology. 2005;129:1845-1853.
20. Weiss B, Shamir R, Bujanover Y, et al. NOD2/CARD15 mutation analysis and genotype-phenotype correlation in Jewish pediatric patients compared with adults with Crohn's disease. J Pediatr. 2004;145:208-212.
21. Russell RK, Drummond HE, Nimmo EE, et al. Genotype-phenotype analysis in childhood-onset Crohn's disease: NOD2/CARD15 variants consistently predict phenotypic characteristics of severe disease. Inflamm Bowel Dis. 2005;11:955-964.
22. Ferraris A, Torres B, Knafelz D, et al. Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study. Inflamm Bowel Dis. 2006;12:355-361.
23. Leshinsky-Silver E, Karban A, Buzhakor E, et al. Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort. Pediatr Res. 2005;58:499-504.
24. Idestrom M, Rubio C, Granath F, et al. CARD15 mutations are rare in Swedish pediatric Crohn disease. J Pediatr Gastroenterol Nutr. 2005;40:456-460.
25. Annese V, Palmieri O, Latiano A, et al. Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease Study. Dig Liver Dis. 2004;36:121-124.
26. Kugathasan S, Loizides A, Babusukumar U, et al. Comparative phenotypic and CARD15 mutational analysis among African-American, Hispanic and Caucasian children with Crohn's disease. Inflamm Bowel Dis. 2005;11:631-638.
27. Gasche C, Scholmerich J, Brynskov J, et al. A simple classification of Crohn's disease: report of the Working Party for the World Congresses of Gastroenterology, Vienna, 1998. Inflamm Bowel Dis. 2000;6:8-15.
28. Kimmel G, Shamir R. GERBIL: genotype resolution and block identification using likelihood. Proc Natl Acad Sci U S A. 2005;102:158-162.
29. Zhang K, Deng M, Chen T, et al. A dynamic programming algorithm for haplotype block partitioning. Proc Natl Acad Sci U S A. 2002;99:7335-7339.
30. Arnott ID, Nimmo ER, Drummond HE, et al. NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe? Genes Immun. 2004;5:417-425.
31. Russell RK, Drummond HE, Nimmo EE, et al. Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease. Gut. 2006;55:1114-1123.