title: Contribution of rs11465788 in IL23R gene to Crohn's disease susceptibility and phenotype in Chinese population.
abstract: Multiple studies have shown that IL23 cytokine plays an essential role in the development of autoimmune diseases by activating IL17-producing helper T (Th17) cells. Given that the susceptibility loci in IL23R for Crohn's disease (CD) is present in Western population and not in Asian population; we screened the IL23R gene by DNA sequencing to identify susceptibility loci in a selected CD cohort and confirmed it in all our subjects (134 CD and 131 controls). A novel nonsynonymous SNP (p.Gly149Arg, c.445G>A) and 35 single nucleotide polymorphisms (SNPs) were identified. Among them, only rs11465788 was implicated in CD susceptibility (P = 4.9 x 10(-4), OR = 0.30). Genotype-phenotypic interaction analysis showed that rs11465788 is associated with nonstricturing and nonpenetrating disease behaviour in CD patients (P = 0.015). Our results provide the evidence that rs11465788 may influence the susceptibility and clinical features of CD in Chinese population.
authors.affiliation: Department of Gastroenterology, the First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan II Road, Guangzhou 510080, People's Republic of China.
authors.forename: Chen
authors.initials: C
authors.lastname: Bin
authors.forename: Zeng
authors.initials: Z
authors.lastname: Zhirong
authors.forename: Wu
authors.initials: W
authors.lastname: Xiaoqin
authors.forename: Chen
authors.initials: C
authors.lastname: Minhu
authors.forename: Li
authors.initials: L
authors.lastname: Mei
authors.forename: Gao
authors.initials: G
authors.lastname: Xiang
authors.forename: Chen
authors.initials: C
authors.lastname: Baili
authors.forename: Hu
authors.initials: H
authors.lastname: Pinjin
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D003424:Crohn Disease / Q000208:ethnology / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics*
chemical_list: D017931:DNA Primers; C515500:IL23R protein, human; D018123:Receptors, Interleukin
references.citation: J Gastroenterol Hepatol. 2006 Jun;21(6):1009-15
references.pmid: 16724987
references.citation: Gastroenterology. 2004 May;126(6):1504-17
references.pmid: 15168363
references.citation: Expert Rev Mol Med. 2004 Apr 27;6(10):1-15
references.pmid: 15122975
references.citation: J Gastroenterol Hepatol. 2007 Sep;22(9):1450-5
references.pmid: 17716349
references.citation: Scand J Gastroenterol Suppl. 1989;170:2-6; discussion 16-9
references.pmid: 2617184
references.citation: Am J Gastroenterol. 2007 Dec;102(12):2754-61
references.pmid: 17894849
references.citation: Trends Immunol. 2006 Jan;27(1):17-23
references.pmid: 16290228
references.citation: J Immunol. 2002 Jun 1;168(11):5699-708
references.pmid: 12023369
references.citation: Gut. 2007 Oct;56(10):1333-6
references.pmid: 17872562
references.citation: J Hum Genet. 2007;52(7):575-583
references.pmid: 17534574
references.citation: Nat Rev Genet. 2002 May;3(5):391-7
references.pmid: 11988764
references.citation: Aliment Pharmacol Ther. 2007 Oct 1;26(7):1025-33
references.pmid: 17877509
references.citation: Inflamm Bowel Dis. 2007 May;13(5):511-5
references.pmid: 17309073
references.citation: J Exp Med. 2003 Dec 15;198(12):1951-7
references.pmid: 14662908
references.citation: J Exp Med. 2006 Oct 30;203(11):2473-83
references.pmid: 17030949
references.citation: Gastroenterology. 2007 May;132(5):1657-64
references.pmid: 17484863
references.citation: Can J Gastroenterol. 2005 Sep;19 Suppl A:5A-36A
references.pmid: 16151544
references.citation: N Engl J Med. 2004 Nov 11;351(20):2069-79
references.pmid: 15537905
references.citation: PLoS One. 2007 Sep 05;2(9):e819
references.pmid: 17786191
references.citation: Gastroenterol Clin North Am. 2002 Mar;31(1):1-20
references.pmid: 12122726
references.citation: Inflamm Bowel Dis. 2007 Sep;13(9):1063-8
references.pmid: 17508420
references.citation: Clin Gastroenterol Hepatol. 2007 Aug;5(8):972-6
references.pmid: 17618837
references.citation: Science. 2006 Dec 1;314(5804):1461-3
references.pmid: 17068223
references.citation: PLoS Genet. 2007 Apr 20;3(4):e58
references.pmid: 17447842