IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes

International Journal of Molecular Medicine

Volumn 27, Issue 3, 2011, Pages 469-477

  Lauriola, Mattia ^a   Ugolini, Giampaolo ^a   Rivetti, Stefano ^a   Nanì, Sara ^a   Rosati, Giancarlo ^a   Zanotti, Simone ^a   Montroni, Isacco ^a   Manaresi, Alessio ^a   Zattoni, Davide ^a   Belluzzi, Andrea ^a   Castellani, Lucia ^a   D'Uva, Gabriele ^a   Mattei, Gabriella ^a   Taffurelli, Mario ^a   Strippoli, Pierluigi ^a   Solmi, Rossella ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Crohn's disease; Genetic susceptibility; Genotype; Single nucleotide polymorphism

Indexed keywords

AUTOPHAGY PROTEIN 5; AUTOPHAGY RELATED 16 LIKE 1 PROTEIN; CASPASE RECRUITMENT DOMAIN PROTEIN 15; HOMEODOMAIN PROTEIN; INTERLEUKIN 23 RECEPTOR; PAIRED LIKE HOMEOBOX 2B; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CROHN DISEASE; DISEASE SEVERITY; GENETIC POLYMORPHISM; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING HABIT;

ADOLESCENT; ADULT; ALLELES; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CROHN DISEASE; FEMALE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MODELS, BIOLOGICAL; NOD2 SIGNALING ADAPTOR PROTEIN; POLYMORPHISM, GENETIC; RECEPTORS, INTERLEUKIN; RISK FACTORS; SMOKING; TRANSCRIPTION FACTORS;

EID: 79551587914     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2010.591     Document Type: Article

References (32)

1. Limbergen JV, Wilson DC and Satsangi J: The genetics of Crohn's disease. Annu Rev Genomics Hum Genet 10: 89-116, 2009.
2. Limbergen JV, Russell RK, Nimmo ER, Ho GT, ArnottI D, Wilson DC and Satsangi J: Genetics of the innate immune response in inflammatory bowel disease. Inflamm Bowel Dis 13: 338-355, 2007
3. Trinh TT and Rioux JD: Understanding association and causality in the genetic studies of inflammatory bowel disease. Gastroenterology 129: 2106-2110, 2005.
4. Mathew CG: New links to the pathogenesis of Crohn disease provided by genome-wide association scans. Nat Rev Genet 9: 9-14, 2008.
5. Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL and Cho JH: A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314: 1461-1473, 2006.
6. Lakatos PL, Szamosi T, Szilvasi A, Molnar E, Lakatos L, Kovacs A, Molnar T, Altorjay I, Papp M, Tulassay Z, Miheller P Papp J, Tordai A and Andrikovics H: Hungarian IBD study group ATG16L1 and IL23 receptor (IL23R) genes are associated with disease susceptibility in Hungarian CD patients. Dig Liver Dis 40: 867-873, 2008.
7. Latiano A, Palmieri O, Valvano MR, D'Incà R, Cucchiara S, Riegler G, Staiano AM, Ardizzone S, Accomando S, de Angelis GL, Corritore G, Bossa F and Annese V: 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: 4643-4651, 2008.
8. Einarsdottir E, Koskinen LL, Dukes E, Kainu K, Suomela S, Lappalainen M, Ziberna F, Korponay-Szabo IR, Kurppa K, Kaukinen K, Adány R, Pocsai Z, Széles G, Färkkilä M, Turunen U, Halme L, Paavola-Sakki P, Not T, Vatta S, Ventura A, Löfberg R, Torkvist L, Bresso F, Halfvarson J, Mäki M, Kontula K, Saarialho-Kere U, Kere J, D'Amato M and Saavalainen P: IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease. BMC Med Genet 28: 10-18, 2009.
9. Bettelli E, Korn T, Oukka M and Kuchroo VK: Induction and effector functions of TH17 cells. Nature 453: 1051-1057, 2008.
10. Amre DK, Mack D, Israel D, Morgan K, Lambrette P, Law L, Grimard G, Deslandres C, Krupoves A, Bucionis V, Costea I, Bissonauth V, Feguery H, D'Souza S, Levy E and Seidman EG: Association between genetic variants in the IL-23R gene and early-onset Crohn's disease: results from a case-control and family-based study among Canadian children. Am J Gastroenterol 103: 615-620, 2008.
11. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cézard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M and Thomas G: Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411: 599-603, 2001.
12. Wehkamp J, Salzman NH, Porter E, Nuding S, Weichenthal M, Petras RE, Shen B, Schaeffeler E, Schwab M, Linzmeier R, Feathers RW, Chu H, Lima H Jr, Fellermann K, Ganz T, Stange EF and Bevins CL: Reduced Paneth cell alpha-defensins in ileal Crohn's disease. Proc Natl Acad Sci USA 102: 18129-18134, 2005.
13. Economou M, Trikalinos TA, Loizou KT, Tsianos EV and Ioannidis JP: Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a meta-analysis. Am J Gastroenterol 99: 2393-2404, 2004.
14. Van Heel DA, Ghosh S, Butler M, Hunt KA, Lundberg AM, Ahmad T, McGovern DP, Onnie C, Negoro K, Goldthorpe S, Foxwell BM, Mathew CG, Forbes A, Jewell DP and Playford RJ: Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease. Lancet 365: 1794-1796, 2005.
15. Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K, Albrecht M, Mayr G, De La Vega FM, Briggs J, Günther S, Prescott NJ, Onnie CM, Häsler R, Sipos B, Fölsch UR, Lengauer T, Platzer M, Mathew CG, Krawczak M and Schreiber S: A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet 39: 207-211, 2007
16. Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A, Green T, Kuballa P, Barmada MM, Datta LW, Shugart YY, Griffiths AM, Targan SR, Ippoliti AF, Bernard EJ, Mei L, Nicolae DL, Regueiro M, Schumm LP, Steinhart AH, Rotter JI, Duerr RH, Cho JH, Daly MJ and Brant SR: Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 39: 596-604, 2007
17. Cummings JR, Cooney R, Pathan S, Anderson CA, Barrett JC, Beckly J, Geremia A, Hancock L, Guo C, Ahmad T, Cardon LR and Jewell DP: Confirmation of the role of ATG16L1 as a Crohn's disease susceptibility gene. Inflamm Bowel Dis 13: 941-946, 2007
18. Prescott NJ, Fisher SA, Franke A, Hampe J, Onnie CM, Soars D, Bagnall R, Mirza MM, Sanderson J, Forbes A, Mansfield JC, Lewis CM, Schreiber S and Mathew CG: A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5. Gastroenterology 32: 1665-1671, 2007
19. Glas J, Konrad A, Schmechel S, Dambacher J, Seiderer J, Schroff F, Wetzke M, Roeske D, Török HP, Tonenchi L, Pfennig S, Haller D, Griga T, Klein W, Epplen JT, Folwaczny C, Lohse P, Göke B, Ochsenkuhn T, Mussack T, Folwaczny M, Müller-Myhsok B and Brand S: The ATG16L1 gene variants rs2241879 and rs2241880 (T300A) are strongly associated with susceptibility to Crohn's disease in the German population. Am J Gastroenterol 103: 682-691, 2008.
20. Glas J, Seiderer J, Pasciuto G, Tillack C, Diegelmann J, Pfennig S, Konrad A, Schmechel S, Wetzke M, Török HP, Stallhofer J, Jürgens M, Griga T, Klein W, Epplen JT, Schiemann U, Mussack T, Lohse P, Göke B, Ochsenkuhn T, Folwaczny M, Müller-Myhsok B and Brand S: rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population. Am J Gastroenterol 104: 665-672, 2009.
21. Silverberg MS, Satsangi J, Ahmad T, Arnott ID, Bernstein CN, Brant SR, Caprilli R, Colombel JF, Gasche C, Geboes K, Jewell DP, Karban A, Loftus Jr EV, Peña AS, Riddell RH, Sachar DB, Schreiber S, Steinhart AH, Targan SR, Vermeire S and Warren BF: 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): S5-S36, 2005.
22. Solmi R, De Sanctis P, Zucchini C, Ugolini G, Rosati G, Del Governatore M, Coppola D, Yeatman TJ, Lenzi L, Caira A, Zanotti S, Taffurelli M, Carinci P, Valvassori L and Strippoli P: Search for epithelial-specific mRNAs in peripheral blood of patients with colon cancer by RT-PCR. Int J Oncol 25: 1049-1056, 2004.
23. Davis LG, Kuehl WM and Battey JF (eds): Basic Methods in Molecular Biology. 2nd edition, Appleton and Lange, Norwalk, 1994.
24. Noue N, Tamura K, Kinouchi Y, Fukuda Y, Takahashi S, Ogura Y, InoharaN, Núñez G, Kishi Y, Koike Y, Shimosegawa T, Shimoyama T and Hibi T: Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 123: 86-91, 2002.
25. Sugimura M, Kinouchi Y, Takahashi S, Aihara H, Takagi S, Negoro K, Obana N, Kojima Y, Matsumoto K, Kikuchi T, Hiroki M, Oomori S and Shimosegawa T: CARD15/NOD2 mutational analysis in Japanese patients with Crohn's disease. Clin Genet 63: 160-162, 2003.
26. Yamazaki K, Takazoe M, Tanaka T, Kazumori T and Nakamura Y: Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease. J Hum Genet 47: 469-472, 2002.
27. Ozen SC, Dagli U, Kilic MY, Toruner M, Celik Y, Ozkan M, Soykan I, Cetinkaya H, Ulker A, Ozden A and Bozdayi AM: NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene polymorphisms in Turkish patients with inflammatory bowel disease. J Gastroenterol 41: 304-310, 2006.
28. Perricone C, Borgiani P, Romano S, Ciccacci C, Fusco G, Novelli G, Biancone L, Calabrese E and Pallone F: ATG16L1 Ala197Thr is not associated with susceptibility to Crohn's disease or with phenotype in an Italian population. Gastroenterology 134: 368-370, 2008.
29. Lewis CM, Whitwell SC, Forbes A, Sanderson J, Mathew CG and Marteau TM: Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease. J Med Genet 44: 689-694, 2007
30. Nedjic J, Aichinger M, Emmerich J, Mizushima N and Klein L: Autophagy in thymic epithelium shapes the T-cell repertoire and is essential for tolerance. Nature 455: 396-400, 2008.
31. Tremelling M, Cummings F, Fisher SA, Mansfield J, Gwilliam R, Keniry A, Nimmo ER, Drummond H, Onnie CM, Prescott NJ, Sanderson J, Bredin F, Berzuini C, Forbes A, Lewis CM, Cardon L, Deloukas P, Jewell D, Mathew CG, Parkes M, and Satsangi J: IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease. Gastroenterology 132: 1657-1664, 2007
32. Silverstein MD, Lashner BA, Hanauer SB, Evans AA and KrisnerJB: Cigarette smoking in Crohn's disease. Am J Gastroenterol 84: 31-33, 1989.