NOD2/CARD15 mutation analysis and genotype-phenotype correlation in Jewish pediatric patients compared with adults with Crohn's disease

Journal of Pediatrics

Volumn 145, Issue 2, 2004, Pages 208-212

  Weiss, Batia ^a   Shamir, Raanan ^a   Bujanover, Yoram ^a   Waterman, Mati ^a   Hartman, Corina ^a   Fradkin, Akiva ^a   Berkowitz, Drora ^a   Weintraub, Ilana ^a   Eliakim, Ram ^a   Karban, Amir ^a  

^a SHEBA MEDICAL CENTER   (Israel)

Author keywords

CD; Crohn's disease; IBD; Inflammatory bowel disease

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15;

ADOLESCENT; ADULT; ADULTHOOD; AGE DISTRIBUTION; ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; CORRELATION ANALYSIS; CROHN DISEASE; DEMOGRAPHY; DIGESTION; ENTERITIS; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; INFANT; JEW; MAJOR CLINICAL STUDY; MALE; NEWBORN; PEDIATRICS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RESTRICTION MAPPING;

ADOLESCENT; ADULT; AGE FACTORS; AGED; ALLELES; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CROHN DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; JEWS; MALE; MIDDLE AGED; NOD2 SIGNALING ADAPTOR PROTEIN; PHENOTYPE;

EID: 3342986671     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2004.05.024     Document Type: Article

References (19)

1. Bonen D.K., Cho J.H. The genetics of inflammatory bowel disease. Gastroenterology. 124:2003;521-536
2. Ogura Y., Bonen D.K., Inohara N., Nicolae D.L., Chen F.F., Ramos R., et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 411:2001;603-606
3. Hugot J.P., Chamaillard M., Zouali H., Lesage S., Cezard J.P., Belaich J., et al. Association of NOD2 leucine-rich repeats variants with susceptibility to Crohn's disease. Nature. 411:2001;599-603
4. Hamper J., Cuthbert A., Croucher P.J.P., Mirza M.M., Mascheretti S., Fisher S., et al. Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. Lancet. 357:2001;1925-1928
5. Sugimura K., Taylor K.D., Lin Y., Hang T., Wang D., Tang Y.M., et al. A novel NOD2/CARD15 haplotype conferring risk of Crohn's disease in Ashkenazi Jews. Am J Hum Genet. 72:2003;509-518
6. Karban A.S., Waterman M., Panhuysen C., Nesher S., Datta L., Weiss B., et al. Differences of NOD2/CARD15 genotype and phenotype among Ashkenazi and Sephardic Jews with Crohn's disease: preliminary evidence indicating higher carrier rate in the Ashkenazi patients. [abstract] Gastroenterology. 124:(Suppl 1):2003;. A-373, M1563
7. Gasch C., Schomerich J., Brynskov J., D'Haens G., Hanauer S.B., Irvine E.J., et al. A simple classification of Crohn's disease: report of the Working Party for the World Congress of Gastroentrology, Vienna 1998. Inflamm Bowel Dis. 6:2000;8-15
8. Abreu M.T., Taylor K.D., Lin Y.C., Hang T., Gaiennie J., Landers C.J., et al. Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease. Gastroenterology. 123:2002;679-688
9. Lesage S., Zouhali H., Cezard J.P., Colombel J.F., Belaiche J., Almer S., et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet. 70:2002;845-857
10. Ahmad T., Armuzzi A., Bunce M., Mulcahy-Hawes K., Marshall S.E., Orchard T.R., et al. The molecular classification of the clinical manifestations of Crohn's disease. Gastroenterology. 122:2002;854-866
11. Polito J.M., Childs B., Mellits E.D., Tokayer A.Z., Harris M.L., Bayless T.M. Crohn's disease: influence of age at diagnosis on site and clinical type of disease. Gastroenterology. 111:1996;580-586
12. Brant S.R., Panhuysen C.I.M., Bailey-Wilson J.E., Rohal P.M., Lee S., Mann J., et al. Linkage heterogeneity for the IBD1 locus in Crohn's disease pedigrees by disease onset and severity. Gastroenterology. 119:2000;1483-1490
13. Podolski D.K. Inflammatory bowel disease (1). N Engl J Med. 325:1991;928-937
14. Podolski D.K. Inflammatory bowel disease (2). N Engl J Med. 325:1991;1008-1016
15. Lesage S., Zouhali H., Cezard J.P., Colombel J.F., Belaiche J., Almer S., et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet. 70:2002;845-857
16. BMDP Statistics Software. Dixon W.J. 1993;University of California Press, Los Angeles (CA)
17. Yang H., McElree C., Roth M.P., Shanahan F., Targan S.R., Rotter J.I., et al. Familial empiric risks for inflammatory bowel disease: difference between Jews and non-Jews. Gut. 34:1993;517-524
18. Zhou Z., Lin X., Akolkar P.N., Gulwani-Akolkar B., Levine J., Katz S., et al. Variation at NOD2/CARD15 in familial and sporadic cases of Crohn's disease in the Ashkenazi Jewish population. Am J Gastroenterol. 97:2002;3095-3101
19. Inoue N., Tamura K., Kinouchi Y., Fukuda Y., Takahashi S., Ogura Y., et al. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology. 123:2002;86-91