Confirmation of three inflammatory bowel disease susceptibility loci in a Chinese cohort

International Journal of Colorectal Disease

Volumn 27, Issue 11, 2012, Pages 1465-1472

  Lv, Chaolan ^a   Yang, Xiaoming ^a   Zhang, Yiyang ^a   Zhao, Xinmei ^a   Chen, Zhengyan ^a   Long, Jinghua ^a   Zhang, Yingchun ^a   Zhong, Changqing ^a   Zhi, Jia ^a   Yao, Guopeng ^a   Jiang, Bo ^a   Zhi, Fachao ^a  

^a FIRST MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Inflammatory bowel diseases; Interleukin 23 receptor; Nucleotide binding oligomerization domain containing 2; Protein tyrosine phosphatase N2

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; INTERLEUKIN 23 RECEPTOR; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 2;

ARTICLE; CHINESE; CONTROLLED STUDY; CROHN DISEASE; ENTERITIS; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ILEUM DISEASE; INTERLEUKIN 23 RECEPTOR GENE; INTESTINE STENOSIS; MAJOR CLINICAL STUDY; NUCLEOTIDE BINDING OLIGOMERIZATION DOMAIN CONTAINING 2 GENE; ONSET AGE; PRIORITY JOURNAL; PROTEIN TYROSINE PHOSPHATASE N2 GENE; ULCERATIVE COLITIS;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CHINA; COHORT STUDIES; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFLAMMATORY BOWEL DISEASES; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NOD2 SIGNALING ADAPTOR PROTEIN; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 2; RECEPTORS, INTERLEUKIN; REPRODUCIBILITY OF RESULTS; YOUNG ADULT;

EID: 84867928884     PISSN: 01791958     EISSN: 14321262     Source Type: Journal    
DOI: 10.1007/s00384-012-1450-6     Document Type: Article

References (29)

1. Xavier RJ, Podolsky DK (2007) Unravelling the pathogenesis of inflammatory bowel disease. Nature 448:427-434
2. Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6:95-108
3. Naderi N, Farnood A, HabibiMet al (2011) NOD2 exonic variations in Iranian Crohn's disease patients. Int J Colorectal Dis 26:775-781
4. Duerr RH, Taylor KD, Brant SR et al (2006) A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314:1461-1463
5. Ogura Y, Bonen DK, Inohara N et al (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411:603-606
6. Lamhonwah AM, Ackerley C, Onizuka R et al (2005) Epitope shared by functional variant of organic cation/carnitine transporter, OCTN1, Campylobacter jejuni and Mycobacterium paratuberculosis may underlie susceptibility to Crohn's disease at 5q31. Biochem Biophys Res Commun 337:1165-1175
7. Lesage S, Zouali H, Cezard JP et al (2002) CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 70:845-857
8. Okazaki T, Wang MH, Rawsthorne P et al (2008) Contributions of IBD5, IL23R, ATG16L1, NOD2 to Crohn's disease risk in a population-based case-control study: Evidence of gene-gene interactions. Inflamm Bowel Dis 14:1528-1541
9. Arnott ID, Nimmo ER, Drummond HE et al (2004) NOD2/ CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: Evidence for genetic heterogeneity within Europe? Genes Immune 5:417-425
10. Chua KH, Hilmi I, Ng CC et al (2009) Identification of NOD2/ CARD15 mutations in Malaysian patients with Crohn's disease. J Dig Dis 10:124-130
11. Sugimura K, Taylor KD, Lin YC et al (2003) A novel NOD2/ CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. Am J Hum Genet 72:509-518
12. Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661-678
13. Yang SK, Loftus EV, Sandborn WJ (2001) Epidemiology of inflammatory bowel disease in Asia. Inflamm Bowel Dis 7:260-270
14. Thia KT, Loftus EV, Sandborn WJ, Yang SK (2008) An update on the epidemiology of inflammatory bowel disease in Asia. Am J Gastroenterol 103:3167-3182
15. Leong RW, Armuzzi A, Ahmad T et al (2003) NOD2/CARD15 gene polymorphisms and Crohn's disease in the Chinese population. Aliment Pharmacol Ther 17:1465-1470
16. Gasche C, Nemeth M, Grundtner P, Willheim-Polli C, Ferenci P, Schwarzenbacher R (2008) Evolution of Crohn's disease-associated Nod2 mutations. Immunogenetics 60:115-120
17. Juyal G, Amre D, Midha V, Sood A, Seidman E, Thelma BK (2007) Evidence of allelic heterogeneity for associations between the NOD2/CARD15 gene and ulcerative colitis among North Indians. Aliment Pharmacol Ther 26:1325-1332
18. Leshinsky-Silver E, Karban A, Buzhakor E et al (2005) Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort. Pediatr Res 58:499-504
19. Abreu MT, Taylor KD, Lin YC et al (2002) Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease. Gastroenterology 123:679-688
20. Bonen DK, Ogura Y, Nicolae DL et al (2003) Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. Gastroenterology 124:140-146
21. Sans M, Castells A (2008) Ulcerative colitis and Crohn's disease genetics:more similar than we thought? Gastroenterology 135:1796-1798
22. Umeno J, Asano K, Matsushita T et al (2011) Meta-analysis of published studies identified eight additional common susceptibility loci for Crohn's disease and ulcerative colitis. Inflamm Bowel Dis 17:2407-2415
23. Franke A, Balschun T, Karlsen TH et al (2008) Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet 40:713-715
24. Morgan AR, Han DY, Huebner C, LamWJ, Fraser AG, Ferguson LR (2010) PTPN2 but not PTPN22 is associated with Crohn's disease in a New Zealand population. Tissue Antigens 76:119-125
25. Yamazaki K, Takahashi A, Takazoe M et al (2009) Positive association of genetic variants in the upstream region of NKX2-3 with Crohn's disease in Japanese patients. Gut 58:228-232
26. Yamazaki K, Onouchi Y, Takazoe M, Kubo M, Nakamura Y, Hata A (2007) Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. J Hum Genet 52:575-583
27. Yang SK, Jung Y, Hong M et al (2011) No association between TNFSF15 and IL23Rwith ulcerative colitis in Koreans. J HumGenet 56:200-204
28. Heide F, Nolte IM, Kleibeuker JH, Wijmenga C, Dijkstra G, Weersma RK (2010) Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's disease. Am J Gastroenterol 105:1165-1172
29. Mankertz J, Schulzke D (2007) Altered permeability in inflammatory bowel disease: Pathophysiology and clinical implications. Curr Opin Gastroenterol 23:379-383