Interleukin-23 receptor genetic polymorphisms and Crohn's disease susceptibility: A meta-analysis

Inflammation Research

Volumn 59, Issue 8, 2010, Pages 607-614

  Li, Yi ^a   Mao, Qing ^a   Shen, Li ^a   Tian, Yun ^b   Yu, Chao ^a   Zhu, Wei Ming ^a   Li, Jie Shou ^a  

^a NANJING UNIVERSITY   (China)

^b CHINA MEDICAL UNIVERSITY   (China)

Author keywords

Crohn's disease; IL 23R; Meta analysis; Polymorphism

Indexed keywords

ARGININE; GLUTAMINE; GUANINE; INTERLEUKIN 23 RECEPTOR; THYMINE;

ALLELE; ARTICLE; CAUCASIAN; CROHN DISEASE; DISEASE COURSE; DISEASE PREDISPOSITION; ETHNICITY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; POPULATION BASED CASE CONTROL STUDY; POPULATION GENETICS; PROTEIN VARIANT; RISK REDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

CROHN DISEASE; DATABASES, FACTUAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POLYMORPHISM, GENETIC; RECEPTORS, INTERLEUKIN;

EID: 77955660759     PISSN: 10233830     EISSN: 1420908X     Source Type: Journal    
DOI: 10.1007/s00011-010-0171-y     Document Type: Article

References (53)

1. Mathew CG, Lewis CM. Genetics of inflammatory bowel disease: progress and prospects. Hum Mol Genet. 2004;13 Spec No 1:R161-8.
2. RH Duerr KD Taylor SR Brant JD Rioux MS Silverberg MJ Daly, et al. 2006 A genome-wide association study identifies IL23R as an inflammatory bowel disease gene Science 314 1461 1463 10.1126/science.1135245 1:CAS:528:DC%2BD28Xht1CntrjF 17068223
3. DK Amre D Mack D Israel K Morgan P Lambrette L Law, et al. 2008 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 10.1111/j.1572-0241.2007.01661.x 1:CAS:528:DC%2BD1cXkslKmtLk%3D 18047539
4. RN Baldassano JP Bradfield DS Monos CE Kim JT Glessner T Casalunovo, et al. 2007 Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease Clin Gastroenterol Hepatol 5 972 976 10.1016/j.cgh.2007.04.024 1:CAS:528:DC%2BD2sXhtVWntr%2FM 17618837
5. KD Taylor SR Targan L Mei AF Ippoliti D McGovern E Mengesha, et al. 2008 IL23R haplotypes provide a large population attributable risk for Crohn's disease Inflamm Bowel Dis 14 1185 1191 10.1002/ibd.20478 18470928
6. MC Dubinsky D Wang Y Picornell I Wrobel L Katzir A Quiros, et al. 2007 IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease Inflamm Bowel Dis 13 511 515 10.1002/ibd.20126 17309073
7. M Venegas CJ Beltran L Alvarez A Castro T Torres AD Leal, et al. 2008 IL-23R Arg381Gln polymorphism in Chilean patients with inflammatory bowel disease Eur Cytokine Netw 19 190 195 1:CAS:528:DC%2BD1MXht1Slu7o%3D 19103525
8. JR Cummings T Ahmad A Geremia J Beckly R Cooney L Hancock, et al. 2007 Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype Inflamm Bowel Dis 13 1063 1068 10.1002/ibd.20180 17508420
9. PL Lakatos T Szamosi A Szilvasi E Molnar L Lakatos A Kovacs, et al. 2008 ATG16L1 and IL23 receptor (IL23R) genes are associated with disease susceptibility in Hungarian CD patients Dig Liver Dis 40 867 873 10.1016/j.dld.2008.03.022 1:CAS:528:DC%2BD1cXhtl2gtbjP 18499543
10. M Lappalainen L Halme U Turunen P Saavalainen E Einarsdottir M Farkkila, et al. 2008 Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population Inflamm Bowel Dis 14 1118 1124 10.1002/ibd.20431 18338763
11. D McGovern F Powrie 2007 The IL23 axis plays a key role in the pathogenesis of IBD Gut 56 1333 1336 10.1136/gut.2006.115402 1:CAS:528:DC%2BD2sXht1SrsbvO 17872562
12. PP Ahern A Izcue KJ Maloy F Powrie 2008 The interleukin-23 axis in intestinal inflammation Immunol Rev 226 147 159 10.1111/j.1600-065X.2008.00705.x 19161422
13. Y Iwakura H Ishigame 2006 The IL-23/IL-17 axis in inflammation J Clin Invest 116 1218 1222 10.1172/JCI28508 1:CAS:528:DC%2BD28XksVWgu7c%3D 16670765
14. E Bettelli M Oukka VK Kuchroo 2007 T(H)-17 cells in the circle of immunity and autoimmunity Nat Immunol 8 345 350 10.1038/ni0407-345 1:CAS:528:DC%2BD2sXjt1Sqs7c%3D 17375096
15. D Yen J Cheung H Scheerens F Poulet T McClanahan B McKenzie, et al. 2006 IL-23 is essential for T-cell-mediated colitis and promotes inflammation via IL-17 and IL-6 J Clin Invest 116 1310 1316 10.1172/JCI21404 1:CAS:528: DC%2BD28XksVWns78%3D 16670770
16. S Fujino A Andoh S Bamba A Ogawa K Hata Y Araki, et al. 2003 Increased expression of interleukin 17 in inflammatory bowel disease Gut 52 65 70 10.1136/gut.52.1.65 1:CAS:528:DC%2BD3sXmtVyqsw%3D%3D 12477762
17. S Hue P Ahern S Buonocore MC Kullberg DJ Cua BS McKenzie, et al. 2006 Interleukin-23 drives innate and T-cell-mediated intestinal inflammation J Exp Med 203 2473 2483 10.1084/jem.20061099 1:CAS:528:DC%2BD28XhtFGqtL7I 17030949
18. JN Hirschhorn K Lohmueller E Byrne K Hirschhorn 2002 A comprehensive review of genetic association studies Genet Med 4 45 61 10.1097/00125817- 200203000-00002 1:CAS:528:DC%2BD38XjtFSru7w%3D 11882781
19. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-78.
20. JC Barrett S Hansoul DL Nicolae JH Cho RH Duerr JD Rioux, et al. 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease Nat Genet 40 955 962 10.1038/ng.175 1:CAS:528: DC%2BD1cXptFSqs7k%3D 18587394
21. E Einarsdottir LL Koskinen E Dukes K Kainu S Suomela M Lappalainen, et al. 2009 IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease BMC Med Genet 10 8 10.1186/1471-2350-10-8 19175939
22. C Libioulle E Louis S Hansoul C Sandor F Farnir D Franchimont, et al. 2007 Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4 PLoS Genet 3 e58 10.1371/journal.pgen.0030058 17447842
23. JV Raelson RD Little A Ruether H Fournier B Paquin P Van Eerdewegh, et al. 2007 Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci Proc Natl Acad Sci USA 104 14747 14752 10.1073/pnas.0706645104 1:CAS:528:DC%2BD2sXhtVOns7jF 17804789
24. JD Rioux RJ Xavier KD Taylor MS Silverberg P Goyette A Huett, et al. 2007 Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis Nat Genet 39 596 604 10.1038/ng2032 1:CAS:528:DC%2BD2sXksFersbk%3D 17435756
25. S Schmechel A Konrad J Diegelmann J Glas M Wetzke E Paschos, et al. 2008 Linking genetic susceptibility to Crohn's disease with Th17 cell function: IL-22 serum levels are increased in Crohn's disease and correlate with disease activity and IL23R genotype status Inflamm Bowel Dis 14 204 212 10.1002/ibd.20315 18022867
26. M Tremelling F Cummings SA Fisher J Mansfield R Gwilliam A Keniry, et al. 2007 IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease Gastroenterology 132 1657 1664 10.1053/j.gastro.2007. 02.051 1:CAS:528:DC%2BD2sXmsVymsrk%3D 17484863
27. ML Baptista H Amarante G Picheth VL Sdepanian N Peterson U Babasukumar, et al. 2008 CARD15 and IL23R influences Crohn's disease susceptibility but not disease phenotype in a Brazilian population Inflamm Bowel Dis 14 674 679 10.1002/ibd.20372 18200510
28. P Borgiani C Perricone C Ciccacci S Romano G Novelli L Biancone, et al. 2007 Interleukin-23R Arg381Gln is associated with susceptibility to Crohn's disease but not with phenotype in an Italian population Gastroenterology 133 1049 1051 10.1053/j.gastro.2007.07.013 1:CAS:528:DC%2BD2sXhtFars7%2FN 17854611 author reply 1051-1052
29. C Buning HH Schmidt T Molnar DJ De Jong T Fiedler S Buhner, et al. 2007 Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease but also ulcerative colitis Aliment Pharmacol Ther 26 1025 1033 1:STN:280:DC%2BD2srlvV2isg%3D%3D 17877509
30. G Civitavecchia MC Renda RF Ruggeri A Maggio S Renna A Orlando, et al. 2009 IL-23R determines susceptibility in Crohn's disease in a Mediterranean area Inflamm Bowel Dis 15 317 318 10.1002/ibd.20591 1:STN:280: DC%2BD1M%2FmslCjsA%3D%3D 18626976
31. P Gaj A Habior M Mikula J Ostrowski 2008 Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients BMC Med Genet 9 81 10.1186/1471-2350-9-81 18715515
32. A Latiano O Palmieri MR Valvano R D'Inca S Cucchiara G Riegler, et al. 2008 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 10.3748/wjg.14.4643 1:CAS:528: DC%2BD1cXht12ltbbK 18698678
33. E Leshinsky-Silver A Karban I Dalal R Eliakim H Shirin T Tzofi, et al. 2007 Evaluation of the interleukin-23 receptor gene coding variant R381Q in pediatric and adult Crohn disease J Pediatr Gastroenterol Nutr 45 405 408 10.1097/MPG.0b013e318141a1de 18030204
34. A Marquez JL Mendoza C Taxonera M Diaz-Rubio EG De La Concha E Urcelay, et al. 2008 IL23R and IL12B polymorphisms in Spanish IBD patients: no evidence of interaction Inflamm Bowel Dis 14 1192 1196 10.1002/ibd.20463 18383521
35. WG Newman Q Zhang X Liu CI Amos KA Siminovitch 2009 Genetic variants in IL-23R and ATG16L1 independently predispose to increased susceptibility to Crohn's disease in a Canadian population J Clin Gastroenterol 43 444 447 10.1097/MCG.0b013e318168bdf0 1:CAS:528:DC%2BD1MXntFyqsLw%3D 19276991
36. T Okazaki MH Wang P Rawsthorne M Sargent LW Datta YY Shugart, et al. 2008 Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohn's disease risk in a population-based case-control study: evidence of gene-gene interactions Inflamm Bowel Dis 14 1528 1541 10.1002/ibd.20512 18521914
37. J Oliver B Rueda MA Lopez-Nevot M Gomez-Garcia J Martin 2007 Replication of an association between IL23R gene polymorphism with inflammatory bowel disease Clin Gastroenterol Hepatol 5 977 981 10.1016/j.cgh.2007.05.002 1:CAS:528:DC%2BD2sXhtVWntr%2FN 17678845 981 e1-2
38. RL Roberts RB Gearry JE Hollis-Moffatt AL Miller J Reid V Abkevich, et al. 2007 IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease Am J Gastroenterol 102 2754 2761 10.1111/j.1572-0241.2007.01525.x 1:CAS:528:DC%2BD1cXkvVCktw%3D%3D 17894849
39. J Van Limbergen RK Russell ER Nimmo HE Drummond L Smith G Davies, et al. 2007 IL23R Arg381Gln is associated with childhood onset inflammatory bowel disease in Scotland Gut 56 1173 1174 10.1136/gut.2007.122069 17337463
40. RK Weersma A Zhernakova IM Nolte C Lefebvre JD Rioux F Mulder, et al. 2008 ATG16L1 and IL23R are associated with inflammatory bowel diseases but not with celiac disease in the Netherlands Am J Gastroenterol 103 621 627 10.1111/j.1572-0241.2007.01660.x 1:CAS:528:DC%2BD1cXkslKmtLY%3D 18047540
41. K Yamazaki Y Onouchi M Takazoe M Kubo Y Nakamura A Hata 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 10.1007/s10038-007-0156-z 1:CAS:528:DC%2BD2sXmvFalsbs%3D 17534574
42. C Bin Z Zhirong W Xiaoqin C Minhu L Mei G Xiang, et al. 2009 Contribution of rs11465788 in IL23R gene to Crohn's disease susceptibility and phenotype in Chinese population J Genet 88 191 196 10.1007/s12041-009-0027-9 19700857
43. DC Baumgart SR Carding 2007 Inflammatory bowel disease: cause and immunobiology Lancet 369 1627 1640 10.1016/S0140-6736(07)60750-8 1:CAS:528:DC%2BD2sXltF2qsrc%3D 17499605
44. GM Cobrin MT Abreu 2005 Defects in mucosal immunity leading to Crohn's disease Immunol Rev 206 277 295 10.1111/j.0105-2896.2005.00293.x 1:CAS:528:DC%2BD2MXhtVWjsb%2FE 16048555
45. M Cargill SJ Schrodi M Chang VE Garcia R Brandon KP Callis, et al. 2007 A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes Am J Hum Genet 80 273 290 10.1086/511051 1:CAS:528:DC%2BD2sXhtlOju70%3D 17236132
46. T Karaderi D Harvey C Farrar LH Appleton MA Stone RD Sturrock, et al. 2009 Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series Rheumatology (Oxford) 48 386 389 10.1093/rheumatology/ken501 1:CAS:528:DC%2BD1MXjsFersr8%3D
47. JP Achkar 2008 IL23R and ATG16L1 SNPs in IBD: alphabet soup or something more? Am J Gastroenterol 103 628 630 10.1111/j.1572-0241.2007.01656.x 1:CAS:528:DC%2BD1cXkslKmtLc%3D 18341487
48. V Holtta P Klemetti T Sipponen M Westerholm-Ormio G Kociubinski H Salo, et al. 2008 IL-23/IL-17 immunity as a hallmark of Crohn's disease Inflamm Bowel Dis 14 1175 1184 10.1002/ibd.20475 18512248
49. L Lyakh G Trinchieri L Provezza G Carra F Gerosa 2008 Regulation of interleukin-12/interleukin-23 production and the T-helper 17 response in humans Immunol Rev 226 112 131 10.1111/j.1600-065X.2008.00700.x 1:CAS:528: DC%2BD1MXhsFGls77L 19161420
50. KJ Maloy 2008 The Interleukin-23/Interleukin-17 axis in intestinal inflammation J Intern Med 263 584 590 10.1111/j.1365-2796.2008.01950.x 1:CAS:528:DC%2BD1cXnvVOltb4%3D 18479257
51. QS Guo B Xia Y Jiang Y Qu J Li 2004 NOD2 3020insC frameshift mutation is not associated with inflammatory bowel disease in Chinese patients of Han nationality World J Gastroenterol 10 1069 1071 1:CAS:528:DC%2BD2cXjslGhu7k%3D 15052696
52. K Yamazaki M Takazoe T Tanaka T Kazumori Y Nakamura 2002 Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease J Hum Genet 47 469 472 10.1007/s100380200067 1:CAS:528: DC%2BD38Xnt1WhsLk%3D 12202985
53. M Economou TA Trikalinos KT Loizou EV Tsianos JP Ioannidis 2004 Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis Am J Gastroenterol 99 2393 2404 10.1111/j.1572-0241.2004.40304.x 1:CAS:528:DC%2BD2MXmsFyquw%3D%3D 15571588