NOD2 gene mutations associate weakly with ulcerative colitis but not with Crohn's disease in Indian patients with inflammatory bowel disease

Gene

Volumn 512, Issue 2, 2013, Pages 309-313

  Pugazhendhi, Srinivasan ^a   Santhanam, Srikanth ^a   Venkataraman, Jayanthi ^b   Creveaux, Isabelle ^c   Ramakrishna, Balakrishnan S ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b STANLEY MEDICAL COLLEGE   (India)

^c UNIVERSITÉ CLERMONT AUVERGNE   (France)

Author keywords

Crohn's disease; Genetic association study; Single nucleotide polymorphism; Ulcerative colitis

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; HETERODUPLEX;

ADULT; ARTICLE; CONTROLLED STUDY; CROHN DISEASE; DISEASE ASSOCIATION; ENTERITIS; EXON; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETERODUPLEX ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INDIAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS;

ADULT; COLITIS, ULCERATIVE; CROHN DISEASE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INDIA; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MUTATION; NOD2 SIGNALING ADAPTOR PROTEIN; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84870363385     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.10.015     Document Type: Article

References (27)

1. Adeyanju O., et al. Common NOD2 risk variants in African Americans with Crohn's disease are due exclusively to recent Caucasian admixture. Inflamm. Bowel Dis. Mar 22 2012, 10.1002/ibd.22944.
2. Adler J., Rangwalla S.C., Dwamena B.A., Higgins P.D. The prognostic power of the NOD2 genotype for complicated Crohn's disease: a meta-analysis. Am. J. Gastroenterol. 2011, 106:699-712.
3. André M.F., et al. Analysis of the NOD2/CARD15 gene in patients affected with the aseptic abscesses syndrome with or without inflammatory bowel disease. Dig. Dis. Sci. 2008, 53:490-499.
4. Annese V., et al. Variants of CARD15 are associated with an aggressive clinical course of Crohn's disease - an IG-IBD study. Am. J. Gastroenterol. 2005, 100:84-92.
5. Cavanaugh J.A., et al. CARD15/NOD2 risk alleles in the development of Crohn's disease in the Australian population. Ann. Hum. Genet. 2003, 67:35-41.
6. Economou M., Trikalinos T.A., Loizou K.T., Tsianos E.V., Ioannidis J.P. Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. Am. J. Gastroenterol. 2004, 99:2393-2404.
7. Gasche C., Nemeth M., Grundtner P., Willheim-Polli C., Ferenci P., Schwarzenbacher R. Evolution of Crohn's disease-associated Nod2 mutations. Immunogenetics 2008, 60:115-120.
8. Glas J., et al. The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn's disease susceptibility gene variants. PLoS One 2010, 5:e14466.
9. Hama I., et al. Non-association of Crohn's disease with NOD2 gene variants in Moroccan patients. Gene 2012, 499:121-123.
10. Hampe J., et al. Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. Lancet 2001, 357:1925-1928.
11. Hedegaard C.J., Enevold C., Sellebjerg F., Bendtzen K., Nielsen C.H. Variation in NOD2 augments Th2- and Th17 responses to myelin basic protein in multiple sclerosis. PLoS One 2011, 6(5):e20253.
12. Hugot J.P., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001, 411:599-603.
13. Jang J.Y., Song S.M., Kim K.M., Oh S.H., Lee Y.J., Rhee K.W. Lack of common NOD2 mutations in Korean pediatric patients with inflammatory bowel disease. Pediatr. Int. 2010, 52:888-889. 10.1111/j.1442-200X.2010.03269.x.
14. Juyal G., Amre D., Midha V., Sood A., Seidman E., Thelma B.K. Evidence of allelic heterogeneity for associations between the NOD2/CARD15 gene and ulcerative colitis among North Indians. Aliment. Pharmacol. Ther. 2007, 26:1325-1332.
15. Lee Y.H., Song G.G. Pathway analysis of a genome-wide association study of ileal Crohn's disease. DNA Cell Biol. 2012, 31:1549-1554.
16. Mahurkar S., et al. Common variants in NOD2 and IL23R are not associated with inflammatory bowel disease in Indians. J. Gastroenterol. Hepatol. 2011, 26:694-699.
17. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988, 16:1215.
18. Ng S.C., et al. Genetics of inflammatory bowel disease in Asia: systematic review and meta-analysis. Inflamm. Bowel Dis. 2012, 18:1164-1176. 10.1002/ibd.21845.
19. Ogura Y., et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001, 411:603-606.
20. Ouyang Q., et al. Management consensus of inflammatory bowel disease for the Asia-Pacific region. J. Gastroenterol. Hepatol. 2006, 21:1772-1782.
21. Packey C.D., Sartor R.B. Interplay of commensal and pathogenic bacteria, genetic mutations, and immunoregulatory defects in the pathogenesis of inflammatory bowel diseases. J. Intern. Med. 2008, 263:597-606.
22. Pugazhendhi S., Amte A., Balamurugan R., Venkataraman S., Ramakrishna B.S. Common NOD2 mutations are absent in Crohn's disease patients in India. Indian J. Gastroenterol. 2008, 27:201-203.
23. Riis L., et al. The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients. Inflamm. Bowel Dis. 2007, 13:24-32.
24. Satsangi J., Silverberg M.S., Vermeire S., Colombel J.F. The Montreal classification of inflammatory bowel disease: controversies, consensus, and implications. Gut 2006, 55:749-753.
25. Strober W., Kitani A., Fuss I., Asano N., Watanabe T. The molecular basis of NOD2 susceptibility mutations in Crohn's disease. Mucosal Immunol. 2008, 1(Suppl. 1):S5-S9.
26. Waterman M., et al. Distinct and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlations with pathogenesis. Inflamm. Bowel Dis. 2011, 17:1936-1942. 10.1002/ibd.21579.
27. Weidinger S., et al. Association of CARD15 polymorphisms with atopy-related traits in a population-based cohort of Caucasian adults. Clin. Exp. Allergy 2005, 35:866-872.