CARD 15 mutations are rare in Swedish pediatric Crohn disease

Journal of Pediatric Gastroenterology and Nutrition

Volumn 40, Issue 4, 2005, Pages 456-460

  Ideström, Maja ^a   Rubio, Carlos ^a   Granath, Fredrik ^a   Finkel, Yigael ^a   Hugot, J P ^b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

CARD15 NOD2; Crohn disease; Genotype; Granuloma; Pediatric; Phenotype

Indexed keywords

CASPASE; DNA; CARD15 PROTEIN, HUMAN; CASPASE RECRUITMENT DOMAIN PROTEIN 15; SIGNAL PEPTIDE;

ADOLESCENT; ADULT; ARTICLE; CARD15 GENE; CHILD; CHILDHOOD DISEASE; CROHN DISEASE; DISEASE ASSOCIATION; ENZYME ACTIVATION; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SWEDEN; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HETEROZYGOTE; HOSPITALIZATION; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; RETROSPECTIVE STUDY;

BACTERIA (MICROORGANISMS);

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CROHN DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; NOD2 SIGNALING ADAPTOR PROTEIN; PHENOTYPE; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; SWEDEN;

EID: 16844365534     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.MPG.0000150423.38210.2E     Document Type: Article

References (24)

1. Hugot J-P, Laurent-Puig P, Gower-Rousseau C, et al. Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature 1996;379:821-3.
2. Hugot J-P, 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;411:603-6.
4. 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;357:1925-8.
5. Girardin S, Boneca I, Viala J, et al. Nod2 is a general sensor of peptidoglycan through muramyl dipeptid (MDP) detection. J Biol Chem 2003;278:8869-72.
6. Lesage S, Zouali H, Cézard J-P, et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002;70:845-57.
7. Hampe J, Grebe J, Nikolaus S, et al. Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study. Lancet 2002;359:1661-5.
8. Vermeire S, Wild G, Kocher K, et al. CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. Am J Hum Genet 2002;71:74-83.
9. Brant S, Picco M, Achkar J-P, 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;9:281-9.
10. Heliö T, Halme L, Lappalainen M, et al. CARD15/NOD2 gene variants are associated with familially occurring and complicated forms of Crohn's disease. Gut 2003;52:558-62
11. Cuthbert AP, Fischer SA, Mirza MM, et al. The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology 2002;122:867-74.
12. Abreau MT, Taylor KD, Lin YC, et al. Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease. Gastroenterology 2002;123:679-88.
13. Ahmad T, Armuzzi A, Bunce M, et al. The molecular classification of the clinical manifestations of Crohn's disease. Gastroenterology 2002;122:854-66.
14. Tomer G, Ceballos C, Concepcion E, et al. NOD2/CARD15 variants are associated with lower weight at diagnosis in children with Crohn's disease. Am J Gastroenterol 2003;98:2479-84
15. Sun L, Roesler J, Rösen-Wolf A, et al. CARD15 Genotype and phenotype analysis in 55 pediatric patients with Crohn's disease from Saxony, Germany. J Pediatr Gastroenteol Nutr 2003;37:492-7
16. Lennard-Jones JE. Classification of inflammatory bowel disease. Scan J Gastroenterol Suppl 1989;170:2-6.
17. Fantone J C, Ward P A. Inflammation. In: Rubin E, Farber J L, eds. Pathology, 2nd ed. Philadelphia: JB Lippincott; 1994:32-66.
18. Sugimura K, Taylor KD, Lin YC, et al. A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. Am J Hum Genet 2003;72:509-18.
19. Croucher P, Mascheretti S, Hampe J, et al. Haplotype structure and association to Crohn's disease of CARD 15 mutations in two ethnically divergent populations. Eur J Hum Genet 2003;11:6-16.
20. Yamazaki K, Takazoe M, Tanaka T, et al. Absence of mutation in the NOD2/Card15 gene among 483 Japanese patients with Crohn's disease. J Hum Genet 2002;47:469-72.
21. Inoue N, Tamura K, Kinouchi Y, et al. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 2002;123:86-91.
22. Leong R, Armuzzi A, Ahmad T, et al. NOD2/CARD15 gene polymorphisms and Crohn's disease in the Chinese population. Aliment Pharmacol Ther 2003;17:1465-70.
23. Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;29:19-20
24. Wang X, Kuivaniemi H, Bonavita G, et al. CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. Arthritis Rheum 2002;46:3041-5