Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: A metaanalysis

American Journal of Gastroenterology

Volumn 99, Issue 12, 2004, Pages 2393-2404

  Economou, Michael ^b   Trikalinos, Thomas A ^b   Loizou, Konstantinos T ^b   Tsianos, Epameinondas V ^b   Ioannidis, John P A ^a  

^a UNIVERSITY OF IOANNINA   (Greece)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15;

ARTICLE; ASIAN; CAUCASIAN; CLINICAL TRIAL; CONFIDENCE INTERVAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CROHN DISEASE; DISEASE ASSOCIATION; EMBASE; FAMILIAL DISEASE; GENETIC RISK; GENETIC VARIABILITY; HEREDITY; HIGH RISK POPULATION; HUMAN; JEW; MAJOR CLINICAL STUDY; MEDLINE; META ANALYSIS; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM 12; SINGLE NUCLEOTIDE POLYMORPHISM 13; SINGLE NUCLEOTIDE POLYMORPHISM 8; SMALL INTESTINE DISEASE; STATISTICAL ANALYSIS; STENOSIS; SYSTEMATIC REVIEW; ULCERATIVE COLITIS;

CHI-SQUARE DISTRIBUTION; CROHN DISEASE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; NOD2 SIGNALING ADAPTOR PROTEIN; PHENOTYPE; RISK ASSESSMENT;

EID: 11144279151     PISSN: 00029270     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1572-0241.2004.40304.x     Document Type: Article

References (65)

1. Fiocchi C. Inflammatory bowel disease: Etiology and pathogenesis. Gastroenterology 1998;115:182-205.
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;411:603-6.
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. 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.
6. 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.
7. Annese V, Latiano A, Andriulli A. Genetics of inflammatory bowel disease: The beginning of the end or the end of the beginning? Dig Liver Dis 2003;35:442-9.
8. Girardin SE, Hugot JP, Sansonetti PJ. Lessons from NOD2 studies: Towards a link between Crohn's disease and bacterial sensing. Trends Immunol 2003;24:652-8.
9. Hugot JP, Zouali H, Lesage S. Lessons to be learned from the NOD2 gene in Crohn's disease. Eur J Gastroenterol Hepatol 2003;15:593-7.
10. Louis E, Michel V, Hugot JP, et al. Early development of stricturing or penetrating pattern in Crohn's disease is influenced by disease location, number of flares, and smoking but not by NOD2/CARD15 genotype. Gut 2003;52:552-7.
11. Helio 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.
12. Zhou Z, Lin XY, Akolkar PN, et al. Variation at NOD2/CARD15 in familial and sporadic cases of Crohn's disease in the Ashkenazi Jewish population. Am J Gastroenterol 2002;97:3095-101.
13. 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.
14. Ahmad T, Armuzzi A, Bunce M, et al. The molecular classification of the clinical manifestations of Crohn's disease. Gastroenterology 2002;122:854-66.
15. Abreu 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.
16. Lesage S, Zouali H, Cezard JP, et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002;70:845-57.
17. 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.
18. Sugimura M, Kinouchi Y, Takahashi S, et al. CARD15/NOD2 mutational analysis in Japanese patients with Crohn's disease. Clin Genet 2003;63:160-2.
19. 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.
20. Croucher PJ, Mascheretti S, Hampe J, et al. Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations. Eur J Hum Genet 2003;11:6-16.
21. Bonen DK, Cho JH. The genetics of inflammatory bowel disease. Gastroenterology 2003;124:521-36.
22. Khoury MJ, Little J. Human genome epidemiologic reviews: The beginning of something HuGE. Am J Epidemiol 2000;151:2-3.
23. Lau J, Ioannidis JP, Schmid CH. Quantitative synthesis in systematic reviews. Ann Intern Med 1997;127:820-6.
24. Fleiss JL. The statistical basis of meta-analysis. Stat Methods Med Res 1993;2:121-45.
25. Higgins JP, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med 2002;21:1539-58.
26. Mantel N, Haenszel W. Statistical aspects of the analysis of data from retrospective studies of disease. J Nat Cancer Inst 1959;22:719-48.
27. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials 1986;7:177-88.
28. Feinstein AR. Clinical epidemiology: The architecture of clinical research. Philadelphia PA: Saunders, 1985.
29. Egger M, Davey Smith G, Schneider M, et al. Bias in meta-analysis detected by a simple, graphical test. BMJ 1997;315:629-34.
30. Ioannidis JP, Trikalinos TA, Ntzani EE, et al. Genetic associations in large versus small studies: An empirical assessment. Lancet 2003;361:567-71.
31. Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics 1994;50:1088-101.
32. Ioannidis JP, Ntzani EE, Trikalinos TA, et al. Replication validity of genetic association studies. Nat Genet 2001;29:306-9.
33. Vermeire S, Louis E, Rutgeerts P, et al. NOD2/CARD15 does not influence response to infliximab in Crohn's disease. Gastroenterology 2002;123:106-11.
34. Palmieri O, Toth S, Ferraris A, et al. CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing. Clin Chem 2003;49:1675-9.
35. 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.
36. Sun L, Roesler J, Rosen-Wolff A, et al. CARD15 genotype and phenotype analysis in 55 pediatric patients with Crohn disease from Saxony, Germany. J Pediatr Gastroenterol Nutr 2003;37:492-7.
37. Klein W, Tromm A, Griga T, et al. Interaction of polymorphisms in the CARD15 and CD14 genes in patients with Crohn disease. Scand J Gastroenterol 2003;38:834-6.
38. Cavanaugh JA, Adams KE, Quak EJ, et al. CARD15/NOD2 risk alleles in the development of Crohn's disease in the Australian population. Ann Hum Genet 2003;67:35-41.
39. 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;122:867-74.
40. Leong RW, 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.
41. Mascheretti S, Hampe J, Croucher PJ, et al. Response to infliximab treatment in Crohn's disease is not associated with mutations in the CARD15 (NOD2) gene: An analysis in 534 patients from two multicenter, prospective GCP-level trials. Pharmacogenetics 2002;12:509-15.
42. Mirza MM, Fisher SA, King K, et al. Genetic evidence for interaction of the 5q31 cytokine locus and the CARD 15 gene in Crohn disease. Am J Hum Genet 2003;72:1018-22.
43. Murillo L, Crusius JB, van Bodegraven AA, et al. CARD15 gene and the classification of Crohn's disease. Immunogenetics 2002;54:59-61.
44. Radlmayr M, Torok HP, Martin K, et al. The c-insertion mutation of the NOD2 gene is associated with fistulizing and fibrostenotic phenotypes in Crohn's disease. Gastroenterology 2002;122:2091-2.
45. Roussomoustakaki M, Koutroubakis I, Vardas EM, et al. NOD2 insertion mutation in a Cretan Crohn's disease population. Gastroenterology 2003;124:272-3; author reply 273-4.
46. van der Linde K, Boor PP, Houwing-Duistermaat JJ, et al. CARD15 and Crohn's disease: Healthy homozygous carriers of the 3020insC frameshift mutation. Am J Gastroenterol 2003;98:613-7.
47. van Heel DA, McGovern DP, Cardon LR, et al. Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: Implications for complex disease genetics. Am J Med Genet 2002;111:253-9.
48. Vavassori P, Borgiani P, D'Apice MR, et al. 3020insC mutation within the NOD2 gene in Crohn's disease: Frequency and association with clinical pattern in an Italian population. Dig Liver Dis 2002;34:153.
49. 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;9:281-9.
50. Fidder HH, Olschwang S, Avidan B, et al. Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients. Am J Med Genet 2003;121A:240-4.
51. Giachino D, van Duist MM, Regazzoni S, et al. Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients. Eur J Hum Genet 2004;12:206-12.
52. Mendoza JL, Murillo LS, Fernandez L, et al. Prevalence of mutations of the NOD2/CARD15 gene and relation to phenotype in Spanish patients with Crohn disease. Scand J Gastroenteroly 2003;38:1235-40.
53. Newman B, Silverberg MS, Gu X, et al. CARD15 and HLA DRB1 alleles influence susceptibility and disease localization in Crohn's disease. Am J Gastroenterol 2004;99:306-15.
54. Nunez C, Barreiro M, Dominguez-Munoz JE, et al. CARD15 mutations in patients with Crohn's disease in a homogeneous Spanish population. Am J Gastroenterol 2004;99:450-6.
55. Buning C, Genschel J, Buhner S, et al. Mutations in the NOD2/CARD15 gene in Crohn's disease are associated with ileocecal resection and are a risk factor for reoperation. Aliment Pharmacol Ther 2004;19:1073-8.
56. Tukel T, Shalata A, Present D, et al. Crohn Disease: Frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. Am J Hum Genet 2004;74:623-360.
57. 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;36:121-4.
58. Karban A, Eliakim R. Failure to replicate the association of the novel NOD2/CARD15 haplotype (S268P-JW1) to Crohn's disease in the Jewish Israeli population. Gastroenterology 2004;126:624-5.
59. Guo QS, Xia B, Jiang Y, et al. NOD2 3020insC frameshift mutation is not associated with inflammatory bowel disease in Chinese patients of Han nationality. World J Gastroenterol 2004;10:1069-71.
60. Chamaillard M, Philpott D, Girardin SE, et al. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci U S A 2003;100:3455-60.
61. 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;124:140-6.
62. Hirschhorn JN, Lohmueller K, Byrne E, et al. A comprehensive review of genetic association studies. Genet Med 2002;4:45-61.
63. Ioannidis JP. Genetic associations: False or true? Trends Mol Med 2003;9:135-8.
64. Louis E, Collard A, Oger AF, et al. Behaviour of Crohn's disease according to the Vienna classification: Changing pattern over the course of the disease. Gut 2001;49:777-82.
65. Lala S, Ogura Y, Osborne C, et al. Crohn's disease and the NOD2 gene: A role for Paneth cells. Gastroenterology 2003;125:47-57.