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Erschienen in: Rheumatology International 7/2010

01.05.2010 | Original Article

Single-nucleotide polymorphisms and expression of IL23R in Chinese ankylosing spondylitis patients

verfasst von: Xinwei Wang, Jinxian Huang, Zhiming Lin, Zetao Liao, Chao Li, Qiujing Wei, Yingjuan Jiang, Like Zhao, Jieruo Gu

Erschienen in: Rheumatology International | Ausgabe 7/2010

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Abstract

The aim of this study was to investigate the association of single-nucleotide polymorphisms (SNPs) in IL23R with ankylosing spondylitis (AS) in Chinese Han population. Six SNPs were selected for analysis in AS patients and controls. The IL23R mRNA expression was detected using RT-PCR. The differences in the genotypes of rs11209032 and the differences in the genotypes and allele frequencies of rs6677188 between cases and controls were significant. The two SNPs rs11209032 and rs6677188 were in strong linkage disequilibrium. Haplotype analysis noted a higher proportion of GAC in cases and a higher proportion of GTC in controls. The patients with AS showed an elevated level of IL23R mRNA in PBMCs. This study suggested that IL23R polymorphisms were associated with susceptibility to AS in the Chinese population and that IL23R may be involved in the development of AS.
Literatur
1.
Zurück zum Zitat Brown MA, Kennedy LG, MacGregor AJ, Darke C, Duncan E, Shatford JL et al (1997) Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. Arthritis Rheum 40:1823–1828. doi:10.1002/art.1780401015 CrossRefPubMed Brown MA, Kennedy LG, MacGregor AJ, Darke C, Duncan E, Shatford JL et al (1997) Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. Arthritis Rheum 40:1823–1828. doi:10.​1002/​art.​1780401015 CrossRefPubMed
2.
Zurück zum Zitat Timms AE, Crane AM, Sims AM, Cordell HJ, Bradbury LA, Abbott A et al (2004) The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis. Am J Hum Genet 75:587–595. doi:10.1086/424695 CrossRefPubMed Timms AE, Crane AM, Sims AM, Cordell HJ, Bradbury LA, Abbott A et al (2004) The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis. Am J Hum Genet 75:587–595. doi:10.​1086/​424695 CrossRefPubMed
4.
Zurück zum Zitat Tsui FW, Tsui HW, Cheng EY, Stone M, Payne U, Reveille JD et al (2003) Novel genetic markers in the 5′-flanking region of ANKH are associated with ankylosing spondylitis. Arthritis Rheum 48:791–797. doi:10.1002/art.10844 CrossRefPubMed Tsui FW, Tsui HW, Cheng EY, Stone M, Payne U, Reveille JD et al (2003) Novel genetic markers in the 5′-flanking region of ANKH are associated with ankylosing spondylitis. Arthritis Rheum 48:791–797. doi:10.​1002/​art.​10844 CrossRefPubMed
6.
Zurück zum Zitat Parham C, Chirica M, Timans J, Vaisberg E, Travis M, Cheung J et al (2002) A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rβ1 and a novel cytokine receptor subunit, IL-23R. J Immunol 168:5699–5708PubMed Parham C, Chirica M, Timans J, Vaisberg E, Travis M, Cheung J et al (2002) A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rβ1 and a novel cytokine receptor subunit, IL-23R. J Immunol 168:5699–5708PubMed
7.
Zurück zum Zitat Belladonna ML, Renauld JC, Bianchi R, Vacca C, Fallarino F, Orabona C et al (2002) IL-23 and IL-12 have overlapping, but distinct effects on murine dendritic cells. J Immunol 168:5448–5454PubMed Belladonna ML, Renauld JC, Bianchi R, Vacca C, Fallarino F, Orabona C et al (2002) IL-23 and IL-12 have overlapping, but distinct effects on murine dendritic cells. J Immunol 168:5448–5454PubMed
8.
Zurück zum Zitat Zhang XY, Zhang HJ, Zhang Y, Fu YJ, He J, Zhu LP et al (2006) Identification and expression analysis of alternatively spliced isoforms of human interleukin-23 receptor gene in normal lymphoid cells and selected tumor cells. Immunogenetics 57:934–943. doi:10.1007/s00251-005-0067-0 CrossRefPubMed Zhang XY, Zhang HJ, Zhang Y, Fu YJ, He J, Zhu LP et al (2006) Identification and expression analysis of alternatively spliced isoforms of human interleukin-23 receptor gene in normal lymphoid cells and selected tumor cells. Immunogenetics 57:934–943. doi:10.​1007/​s00251-005-0067-0 CrossRefPubMed
10.
Zurück zum Zitat Capon F, Di Meglio P, Szaub J, Prescott NJ, Dunster C, Baumber L et al (2007) Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet 122:201–206. doi:10.1007/s00439-007-0397-0 CrossRefPubMed Capon F, Di Meglio P, Szaub J, Prescott NJ, Dunster C, Baumber L et al (2007) Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet 122:201–206. doi:10.​1007/​s00439-007-0397-0 CrossRefPubMed
11.
Zurück zum Zitat Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP 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. doi:10.1086/511051 CrossRefPubMed Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP 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. doi:10.​1086/​511051 CrossRefPubMed
12.
Zurück zum Zitat Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A et al (2007) Association scan of 14500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 39:1329–1337. doi:10.1038/ng.2007.17 CrossRefPubMed Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A et al (2007) Association scan of 14500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 39:1329–1337. doi:10.​1038/​ng.​2007.​17 CrossRefPubMed
15.
Zurück zum Zitat Lee E, Trepicchio WL, Oestreicher JL, Pittman D, Wang F, Chamian F et al (2004) Increased expression of interleukin 23 p19 and p40 in lesional skin of patients with psoriasis vulgaris. J Exp Med 199:125–130. doi:10.1084/jem.20030451 CrossRefPubMed Lee E, Trepicchio WL, Oestreicher JL, Pittman D, Wang F, Chamian F et al (2004) Increased expression of interleukin 23 p19 and p40 in lesional skin of patients with psoriasis vulgaris. J Exp Med 199:125–130. doi:10.​1084/​jem.​20030451 CrossRefPubMed
16.
Zurück zum Zitat Schmidt C, Giese T, Ludwig B, Mueller-Molaian I, Marth T, Zeuzem S et al (2005) Expression of interleukin-12-related cytokine transcripts in inflammatory bowel disease: elevated interleukin-23p19 and interleukin-p27p28 in Crohn’s disease but not in ulcerative colitis. Inflamm Bowel Dis 11:16–23. doi:10.1097/00054725-200501000-00003 CrossRefPubMed Schmidt C, Giese T, Ludwig B, Mueller-Molaian I, Marth T, Zeuzem S et al (2005) Expression of interleukin-12-related cytokine transcripts in inflammatory bowel disease: elevated interleukin-23p19 and interleukin-p27p28 in Crohn’s disease but not in ulcerative colitis. Inflamm Bowel Dis 11:16–23. doi:10.​1097/​00054725-200501000-00003 CrossRefPubMed
19.
20.
Zurück zum Zitat Libioulle C, Louis E, Hansoul S, Sandor C, Farnir F, Franchimont D 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 20:e58. doi:10.1371/journal.pgen.0030058 CrossRef Libioulle C, Louis E, Hansoul S, Sandor C, Farnir F, Franchimont D 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 20:e58. doi:10.​1371/​journal.​pgen.​0030058 CrossRef
Metadaten
Titel
Single-nucleotide polymorphisms and expression of IL23R in Chinese ankylosing spondylitis patients
verfasst von
Xinwei Wang
Jinxian Huang
Zhiming Lin
Zetao Liao
Chao Li
Qiujing Wei
Yingjuan Jiang
Like Zhao
Jieruo Gu
Publikationsdatum
01.05.2010
Verlag
Springer-Verlag
Erschienen in
Rheumatology International / Ausgabe 7/2010
Print ISSN: 0172-8172
Elektronische ISSN: 1437-160X
DOI
https://doi.org/10.1007/s00296-009-1085-2

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