Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease

Inflammatory Bowel Diseases

Volumn 16, Issue 7, 2010, Pages 1108-1117

  Latiano, Anna ^a   Palmieri, Orazio ^a   Corritore, Giuseppe ^a   Valvano, Maria Rosa ^a   Bossa, Fabrizio ^a   Cucchiara, Salvatore ^b   Castro, Massimo ^c   Riegler, Gabriele ^d   De Venuto, Domenica ^e   D'Incà, Renata ^f   Andriulli, Angelo ^a   Annese, Vito ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

^e UNIVERSITY OF BARI   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

Author keywords

BSN; Crohn's disease; Genotype phenotype; MST1; Ulcerative colitis

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; CROHN DISEASE; DNA POLYMORPHISM; ENTERITIS; FEMALE; GENE INTERACTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 3; COLITIS, ULCERATIVE; CROHN DISEASE; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GTP-BINDING PROTEINS; HAPLOTYPES; HUMANS; INFANT; MALE; MIDDLE AGED; NOD2 SIGNALING ADAPTOR PROTEIN; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, INTERLEUKIN; YOUNG ADULT;

EID: 77953693552     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1002/ibd.21176     Document Type: Article

References (45)

1. Lashner BA. Epidemiology of inflammatory bowel disease. Gastroenterol Clin North Am. 1995;24:467-474.
2. Kugathasan S, Judd RH, Hoffmann RG, et al. Epidemiologic and clinical characteristics of children with newly diagnosed inflammatory bowel disease in Wisconsin: a statewide population-based study. J Pediatr. 2003;143:525-531.
3. Schreiber S, Rosenstiel P, Albrecht M, et al. Genetics of Crohn disease, an archetypal inflammatory barrier disease. Nat Rev Genet. 2005;6:376-388. (Pubitemid 40577181)
4. Mathew CG. New links to the pathogenesis of Crohn disease provided by genomewide association scans. Nat Rev Genet. 2008;9:9-14.
5. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447:661-678.
6. Parkes M, Barrett JC, Prescott NJ, et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet. 2007;39:830-832.
7. Franke A, Balschun T, Karlsen TH, et al. Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet. 2008;40:713-715.
8. Raelson JV, Little RD, Ruether A, et al. Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. Proc Natl Acad Sci U S A. 2007;104:14747-14752.
9. Barrett JC, Hansoul S, Nicolae DL, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet. 2008;40:955-962.
10. Satsangi J, Parkes M, Louis E, et al. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet. 1996;14:199-202.
11. Hampe J, Schreiber S, Shaw SH, et al. A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. Am J Hum Genet. 1999;64:808-816.
12. Rioux JD, Silverberg MS, Daly MJ, et al. Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet. 2000;66:1863-1870.
13. Paavola P, Heliö T, Kiuru M, et al. Genetic analysis in Finnish families with inflammatory bowel disease supports linkage to chromosome 3p21. Eur J Hum Genet. 2001;9:328-334.
14. Hampe J, Lynch NJ, Daniels S, et al. Fine mapping of the chromosome 3p susceptibility locus in inflammatory bowel disease. Gut. 2001;48:191-197. (Pubitemid 32141842)
15. Duerr RH, Barmada MM, Zhang L, et al. Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage, transmission/disequilibrium and partitioning of linkage. Hum Mol Genet. 2002;11:2599-2606. (Pubitemid 35189520)
16. van Heel DA, Dechairo BM, Dawson G, et al. The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants. Hum Mol Genet. 2003;12:2569-2575.
17. Leonard EJ. Biological aspects of macrophage-stimulating protein (MSP) and its receptor. Ciba Found Symp. 1997;212:183-191.
18. Goyette P, Lefebvre C, Ng A, et al. Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis. Mucosal Immunol. 2008;1:131-138.
19. Danilkovitch A, Miller M, Leonard EJ. Interaction of macrophage stimulating protein with its receptor. Residues critical for beta chain binding and evidence for independent alpha chain binding. J Biol Chem. 1999;274:29937-29943. (Pubitemid 129637925)
20. Podolski DK. Inflammatory bowel disease. N Engl J Med. 2002;347:417-429.
21. IBD Working Group of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. Inflammatory bowel disease in children and adolescents: recommendations for diagnosis - the Porto criteria. J Pediatr Gastroenterol Nutr. 2005;41:1-7.
22. Cucchiara S, Latiano A, Palmieri O, et al. Polymorphisms of tumour necrosis factor-alpha but not MDR1 influence response to medical therapy in pediatric-onset inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2007;44:171-179.
23. Silverberg MS, Satsangi J, Ahmad T, 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. 2005;19(suppl A):5-36.
24. Latiano A, Palmieri O, Valvano MR, et al. Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease: a meta-analysis. Inflamm Bowel Dis. 2007;13:1212-1219.
25. Latiano A, Palmieri O, Cucchiara S, et al. Polymorphism of the IRGM gene might predispose to fistulizing behavior in Crohn's disease. Am J Gastroenterol. 2009;104:110-116.
26. Latiano A, Palmieri O, Valvano MR, et al. 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. 2008;7;14:4643-4651.
27. Fisher SA, Tremelling M, Anderson CA, et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet. 2008;40:710-712.
28. Duerr RH, Taylor KD, Brant SR, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science. 2006;314:1461-1463.
29. Franke A, Balschun T, Karlsen TH, et al. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet. 2008;40:1319-1323.
30. Hampe J, Franke A, Rosenstiel P, et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet. 2007;39:207-211. (Pubitemid 46184351)
31. Wang MH, Skeel A, Leonard EJ. Proteolytic cleavage and activation of pro-macrophage-stimulating protein by resident peritoneal macrophage membrane proteases. J Clin Invest. 1996;97:720-727. (Pubitemid 26057091)
32. Wang MH, Yoshimura T, Skeel A, et al. Proteolytic conversion of single chain precursor macrophage-stimulating protein to a biologically active heterodimer by contact enzymes of the coagulation cascade. J Biol Chem. 1994;269:3436-3440. (Pubitemid 24237662)
33. Wang MH, Julian FM, Breathnach R, et al. Macrophage stimulating protein (MSP) binds to its receptor via the MSP beta chain. J Biol Chem. 1997;272:16999-17004.
34. Ronsin C, Muscatelli F, Mattei MG, et al. A novel putative receptor protein tyrosine kinase of the met family. Oncogene. 1993;8:1195-1202. (Pubitemid 23129841)
35. Rubin JS, Bottaro DP, Aaronson SA. Hepatocyte growth factor/scatter factor and its receptor, the c-met proto oncogene product. Biochim Biophys Acta. 1993;1155:357-371.
36. Iwama A, Wang MH, Yamaguchi N, et al. Terminal differentiation of murine resident peritoneal macrophages is characterized by expression of the STK protein tyrosine kinase, a receptor for macrophage-stimulating protein. Blood. 1995;86:3394-3403.
37. Kurihara N, Iwama A, Tatsumi J, et al. Macrophage-stimulating protein activates STK receptor tyrosine kinase on osteoclasts and facilitates bone resorption by osteoclast-like cells. Blood. 1996;87:3704-3710. (Pubitemid 26129598)
38. Nanney LB, Skeel A, Luan J, et al. Proteolytic cleavage and activation of pro-macrophage-stimulating protein and upregulation of its receptor in tissue injury. J Invest Dermatol. 1998;111:573-581.
39. Liu QP, Fruit K, Ward J, et al. Negative regulation of macrophage activation in response to IFN-gamma and lipopolysaccharide by the STK/RON receptor tyrosine kinase. J Immunol. 1999;163:6606-6613.
40. Correll PH, Iwama A, Tondat S, et al. Deregulated inflammatory response in mice lacking the STK/RON receptor tyrosine kinase. Genes Funct. 1997;1:69-83.
41. Muraoka RS, Sun WY, Colbert MC, et al. The Ron/STK receptor tyrosine kinase is essential for peri-implantation development in the mouse. J Clin Invest. 1999;103:1277-1285. (Pubitemid 29218298)
42. Waltz SE, Eaton L, Toney-Earley K, et al. Ron-mediated cytoplasmic signaling is dispensable for viability but is required to limit inflammatory responses. J Clin Invest. 2001;108:567-576.
43. Leonard EJ. Biological aspects of macrophage-stimulating protein (MSP) and its receptor. Ciba Found Symp. 1997;212:183-191.
44. Wang MH, Cox GW, Yoshimura T, et al. Macrophage-stimulating protein inhibits induction of nitric oxide production by endotoxin- or cytokine-stimulated mouse macrophages. J Biol Chem. 1994;269:14027-140231.
45. Chen YQ, Fisher JH, Wang MH. Activation of the RON receptor tyrosine kinase inhibits inducible nitric oxide synthase (iNOS) expression by murine peritoneal exudate macrophages: phosphatidylinositol-3 kinase is required for RON-mediated inhibition of iNOS expression. J Immunol. 1998;161:4950-4959.