BACKGROUND & AIMS: Recently, the interleukin 23 receptor (IL23R) gene encoding a subunit of the receptor of the inflammatory cytokine IL-23 has been identified as a novel genetic factor strongly associated with inflammatory bowel disease (IBD). We aimed to replicate the IBD association of IL23R genetic markers in an IBD independent Spanish cohort. METHODS: Four hundred sixty IBD patients of Spanish white origin (238 CD and 222 UC) and 342 ethnically matched healthy controls comprised the study population. Eight single nucleotide polymorphisms (SNPs) spanning the IL23R gene and its downstream intergenic region were selected as genetic markers and genotyped by using Taqman 5' allelic discrimination assay. RESULTS: All genetic variants located within the IL23R gene were observed to confer a strong protective effect against IBD susceptibility in our population. The Arg381Gln (rs11209026) non-synonymous SNP was most significantly associated with IBD protection (odds ratio, 0.4; 95% confidence interval, 0.3-0.7). In addition to the single SNP analysis, we performed a haplotype analysis identifying 2 haplotypes significantly associated with IBD protection. CONCLUSIONS: In this study we replicate the association of IL23R genetic variants with IBD in a Spanish population. These findings, together with the previous results, suggest that the IL23R gene is one of the genetic factors implicated in the genetics of IBD in the general population.
BACKGROUND & AIMS: Recently, the interleukin 23 receptor (IL23R) gene encoding a subunit of the receptor of the inflammatory cytokine IL-23 has been identified as a novel genetic factor strongly associated with inflammatory bowel disease (IBD). We aimed to replicate the IBD association of IL23R genetic markers in an IBD independent Spanish cohort. METHODS: Four hundred sixty IBD patients of Spanish white origin (238 CD and 222 UC) and 342 ethnically matched healthy controls comprised the study population. Eight single nucleotide polymorphisms (SNPs) spanning the IL23R gene and its downstream intergenic region were selected as genetic markers and genotyped by using Taqman 5' allelic discrimination assay. RESULTS: All genetic variants located within the IL23R gene were observed to confer a strong protective effect against IBD susceptibility in our population. The Arg381Gln (rs11209026) non-synonymous SNP was most significantly associated with IBD protection (odds ratio, 0.4; 95% confidence interval, 0.3-0.7). In addition to the single SNP analysis, we performed a haplotype analysis identifying 2 haplotypes significantly associated with IBD protection. CONCLUSIONS: In this study we replicate the association of IL23R genetic variants with IBD in a Spanish population. These findings, together with the previous results, suggest that the IL23R gene is one of the genetic factors implicated in the genetics of IBD in the general population.
Authors: Lara Bossini-Castillo; Jose-Ezequiel Martin; Jasper Broen; Olga Gorlova; Carmen P Simeón; Lorenzo Beretta; Madelon C Vonk; Jose Luis Callejas; Ivan Castellví; Patricia Carreira; Francisco José García-Hernández; Mónica Fernández Castro; Marieke J H Coenen; Gabriela Riemekasten; Torsten Witte; Nicolas Hunzelmann; Alexander Kreuter; Jörg H W Distler; Bobby P Koeleman; Alexandre E Voskuyl; Annemie J Schuerwegh; Øyvind Palm; Roger Hesselstrand; Annika Nordin; Paolo Airó; Claudio Lunardi; Raffaella Scorza; Paul Shiels; Jacob M van Laar; Ariane Herrick; Jane Worthington; Christopher Denton; Filemon K Tan; Frank C Arnett; Sandeep K Agarwal; Shervin Assassi; Carmen Fonseca; Maureen D Mayes; Timothy R D J Radstake; Javier Martin Journal: Hum Mol Genet Date: 2011-11-10 Impact factor: 6.150
Authors: Zhenwu Lin; Lisa Poritz; Andre Franke; Tong-Yi Li; Andreas Ruether; Kathryn A Byrnes; Yunhua Wang; Anthony W Gebhard; Colin MacNeill; Neal J Thomas; Stefan Schreiber; Walter A Koltun Journal: Dig Dis Sci Date: 2009-03-18 Impact factor: 3.199
Authors: Anna Latiano; Orazio Palmieri; Maria Rosa Valvano; Renata D'Incà; Salvatore Cucchiara; Gabriele Riegler; Anna Maria Staiano; Sandro Ardizzone; Salvatore Accomando; Gian Luigi de Angelis; Giuseppe Corritore; Fabrizio Bossa; Vito Annese Journal: World J Gastroenterol Date: 2008-08-07 Impact factor: 5.742
Authors: Elisabet Einarsdottir; Lotta L E Koskinen; Emma Dukes; Kati Kainu; Sari Suomela; Maarit Lappalainen; Fabiana Ziberna; Ilma R Korponay-Szabo; Kalle Kurppa; Katri Kaukinen; Róza Adány; Zsuzsa Pocsai; György Széles; Martti Färkkilä; Ulla Turunen; Leena Halme; Paulina Paavola-Sakki; Tarcisio Not; Serena Vatta; Alessandro Ventura; Robert Löfberg; Leif Torkvist; Francesca Bresso; Jonas Halfvarson; Markku Mäki; Kimmo Kontula; Ulpu Saarialho-Kere; Juha Kere; Mauro D'Amato; Päivi Saavalainen Journal: BMC Med Genet Date: 2009-01-28 Impact factor: 2.103