The NOD2-Smoking Interaction in Crohn's Disease is likely Specific to the 1007 fs Mutation and may be Explained by Age at Diagnosis: A Meta-Analysis and Case-Only Study

EBioMedicine

Volumn 21, Issue , 2017, Pages 188-196

  Kuenzig, M Ellen ^a,b,d   Yim, Jeff ^b,e   Coward, Stephanie ^a,b,d   Eksteen, Bertus ^a,b   Seow, Cynthia H ^a,b   Barnabe, Cheryl ^a,b,d   Barkema, Herman W ^b,d   Silverberg, Mark S ^b,f   Lakatos, Peter L ^b,c   Beck, Paul L ^a,b   Fedorak, Richard ^b,g   Dieleman, Levinus A ^b,g   Madsen, Karen ^b,g   Panaccione, Remo ^a,b   Ghosh, Subrata ^a,b   Kaplan, Gilaad G ^a,b,d  

^a UNIVERSITY OF CALGARY   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

^c MONTREAL GENERAL HOSPITAL   (Canada)

^d UNIVERSITY OF CALGARY   (Canada)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^f MOUNT SINAI HOSPITAL   (Canada)

^g UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Age; Cigarette smoking; Crohn's disease; Gene environment interactions; NOD2

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; NOD2 PROTEIN, HUMAN;

1007 FS GENE; ARTICLE; CROHN DISEASE; ENVIRONMENTAL FACTOR; GENE; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; META ANALYSIS; PRIORITY JOURNAL; PUBLISHING; SAMPLE SIZE; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; SYSTEMATIC REVIEW; AGE; ALLELE; CASE CONTROL STUDY; DISEASE PREDISPOSITION; FEMALE; GENETICS; GENOTYPE; MALE; METABOLISM; MUTATION; ODDS RATIO;

AGE FACTORS; ALLELES; CASE-CONTROL STUDIES; CROHN DISEASE; DISEASE SUSCEPTIBILITY; FEMALE; GENE-ENVIRONMENT INTERACTION; GENOTYPE; HUMANS; MALE; MUTATION; NOD2 SIGNALING ADAPTOR PROTEIN; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; PUBLICATION BIAS; SMOKING;

EID: 85021292150     PISSN: None     EISSN: 23523964     Source Type: Journal    
DOI: 10.1016/j.ebiom.2017.06.012     Document Type: Article

References (45)

1. Ananthakrishnan, A.N., et al. Differential effect of genetic burden on disease phenotypes in Crohn's disease and ulcerative colitis: analysis of a North American cohort. Am. J. Gastroenterol. 109:3 (2014), 395–400.
2. Butler, M., et al. NOD2 activity modulates the phenotype of LPS-stimulated dendritic cells to promote the development of T-helper type 2-like lymphocytes — possible implications for NOD2-associated Crohn's disease. J. Crohn's Colitis 1:2 (2007), 106–115.
3. Cleynen, I., et al. Genetic factors conferring an increased susceptibility to develop Crohn's disease also influence disease phenotype: results from the IBDchip European Project. Gut 62:11 (2013), 1556–1565.
4. Cleynen, I., et al. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study. Lancet 387:10014 (2016), 156–167.
5. Cucchiara, S., et al. Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases. World J. Gastroenterol. 13:8 (2007), 1221–1229.
6. de Diego, C., et al. Influence of smoking habits and CARD15 mutations on the onset of Crohn's disease. Scand. J. Gastroenterol. 41:10 (2006), 1209–1211.
7. de Ridder, L., et al. Genetic susceptibility has a more important role in pediatric-onset Crohnʼs disease than in adult-onset Crohnʼs disease. Inflamm. Bowel Dis. 13:9 (2007), 1083–1092.
8. Doecke, J.D., et al. Smoking behaviour modifies IL23r-associated disease risk in patients with Crohn's disease. J. Gastroenterol. Hepatol. 30:2 (2015), 299–307.
9. Economou, M., et al. Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. Am. J. Gastroenterol. 99:12 (2004), 2393–2404.
10. Egger, M., et al. Bias in meta-analysis detected by a simple, graphical test. BMJ 315:7109 (1997), 629–634.
11. Fowler, S.A., et al. SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease. J. Crohn's Colitis 8:8 (2014), 845–851.
12. Furberg, H., et al. Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nat. Genet. 42:5 (2010), 441–447.
13. Giachino, D., et al. Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients. Eur. J. Hum. Genet. 12:3 (2004), 206–212.
14. Helbig, K.L., et al. A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology. BMC Med. Genet., 13(1), 2012, 14.
15. Henckaerts, L., et al. Genetic risk profiling and prediction of disease course in Crohn's disease patients. Clin. Gastroenterol. Hepatol. 7:9 (2009), 972–980.e2.
16. Karban, A., et al. Non-Jewish Israeli IBD patients have significantly higher Glutathione S-Transferase GSTT1-null frequency. Dig. Dis. Sci. 56:7 (2011), 2081–2087.
17. Knights, D., Lassen, K.G., Xavier, R.J., Advances in inflammatory bowel disease pathogenesis: linking host genetics and the microbiome. Gut 62:10 (2013), 1505–1510.
18. Kramer, M., et al. Impaired dendritic cell function in Crohn's disease patients with NOD2 3020insC mutation. J. Leukoc. Biol. 79:4 (2006), 860–866.
19. Laghi, L., et al. Carriage of CARD15 variants and smoking as risk factors for resective surgery in patients with Crohn's ileal disease. Aliment. Pharmacol. Ther. 22:6 (2005), 557–564.
20. Lakatos, P.L., et al. Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn's disease: phenotype-genotype correlations. World J. Gastroenterol. 11:10 (2005), 1489–1495.
21. Latiano, A., Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy. World J. Gastroenterol. 14:29 (2008), 4643–4649.
22. Lauriola, M., et al. IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes. Int. J. Mol. Med. 27:3 (2011), 469–477.
23. Lennard-Jones, J.E., Classification of inflammatory bowel disease. Scand. J. Gastroenterol. 24:s170 (1989), 2–6.
24. Liu, C.-Y., et al. Design and analysis issues in gene and environment studies. Environ. Health, 11(1), 2012, 93.
25. Maconi, G., et al. CARD15 gene variants and risk of reoperation in Crohn's disease patients. Am. J. Gastroenterol. 104:10 (2009), 2483–2491.
26. Mahid, S.S., et al. Smoking and inflammatory bowel disease: a meta-analysis. Mayo Clin. Proc. 81:11 (2006), 1462–1471.
27. Mardini, H.E., et al. Gastroduodenal Crohn's disease is associated with NOD2/CARD15 gene polymorphisms, particularly L1007P homozygosity. Dig. Dis. Sci. 50:12 (2005), 2316–2322.
28. Mendoza, J.L., et al. Prevalence of mutations of the NOD2/CARD15 gene and relation to phenotype in Spanish patients with Crohn disease. Scand. J. Gastroenterol. 38:12 (2003), 1235–1240.
29. Moher, D., et al. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med., 6(7), 2009 e1000097-6.
30. Nagy, Z., et al. Crohn's disease is associated with polymorphism of CARD15/NOD2 gene in a Hungarian population. Ann. N. Y. Acad. Sci. 1051:1 (2005), 45–51.
31. Pierce, B.L., Ahsan, H., Case-only genome-wide interaction study of disease risk, prognosis and treatment. Genet. Epidemiol. 34:1 (2010), 7–15.
32. Protic, M.B., et al. CARD15 gene polymorphisms in Serbian patients with Crohnʼs disease: genotype–phenotype analysis. Eur. J. Gastroenterol. Hepatol. 20:10 (2008), 978–984.
33. R. Core Team, R: A Language and Environment for Statistical Computing. 2016 Available at: http://www.R-project.org.
34. Renda, M.C., et al. The role of CARD15 mutations and smoking in the course of Crohn's disease in a Mediterranean area. Am. J. Gastroenterol. 103:3 (2008), 649–655.
35. Sabate, J.M., et al. The V249I polymorphism of the CX3CR1 gene is associated with fibrostenotic disease behavior in patients with Crohn's disease. Eur. J. Gastroenterol. Hepatol. 20:8 (2008), 748–755.
36. Satsangi, J., The Montreal classification of inflammatory bowel disease: controversies, consensus, and implications. Gut 55:6 (2006), 749–753.
37. Schwarzer, G., meta: General Package for Meta-Analysis. R package version 4.1–0. Available at: http://CRAN.R-project.org/package=meta, 2017.
38. Silverberg, M.S., 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. 19:Suppl A (2005), 5A–36A.
39. Thomas, D., Methods for investigating gene-environment interactions in candidate pathway and genome-wide association studies. Annu. Rev. Public Health 31:1 (2010), 21–36.
40. Ueno, A., et al. Opposing effects of smoking in ulcerative Colitis and Crohnʼs disease may be explained by differential effects on dendritic cells. Inflamm. Bowel Dis. 20:5 (2014), 800–810.
41. van Heel, D.A., et al. Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease. Lancet 365:9473 (2005), 1794–1796.
42. Walker, L.J., et al. Anti-Saccharomyces cerevisiae antibodies (ASCA) in Crohn's disease are associated with disease severity but not NOD2/CARD15 mutations. Clin. Exp. Immunol. 135:3 (2004), 490–496.
43. Wang, L.Y., Lee, W.C., Population stratification bias in the case-only study for gene-environment interactions. Am. J. Epidemiol. 168:2 (2008), 197–201.
44. Wells, G.A., et al. The Newcastle-Ottawa Scale (NOS) for assessing the quality of nonrandomised studies in meta-analyses. ohri.ca. Available at: http://www.ohri.ca/programs/clinical_epidemiology/oxford.asp, 2017 (Accessed January 30, 2017).
45. Wong, S.L., et al. Assessment of validity of self-reported smoking status. Health Rep. 23:1 (2012), 47–53.