Single-nucleotide polymorphisms and expression of IL23R in Chinese ankylosing spondylitis patients.
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.
Wang
Xinwei
X
Department of Rheumatology, Third Affiliated Hospital of Sun Yat-Sen University, 600 Tianhe Road, Guangzhou, 510630, People's Republic of China.
Huang
Jinxian
J
Lin
Zhiming
Z
Liao
Zetao
Z
Li
Chao
C
Wei
Qiujing
Q
Jiang
Yingjuan
Y
Zhao
Like
L
Gu
Jieruo
J
D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D015415:Biomarkers / Q000032:analysis / Q000097:blood; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D053760:Interleukin-23 Subunit p19 / Q000235:genetics; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D018123:Receptors, Interleukin / Q000235:genetics*; D013167:Spondylitis, Ankylosing / Q000208:ethnology / Q000235:genetics* / Q000276:immunology*; D055815:Young Adult
D015415:Biomarkers; D005819:Genetic Markers; C508840:IL23A protein, human; C515500:IL23R protein, human; D053760:Interleukin-23 Subunit p19; D012333:RNA, Messenger; D018123:Receptors, Interleukin
Tissue Antigens. 2007 Sep;70(3):233-7
17661912
Hum Mol Genet. 2000 Jul 1;9(11):1563-6
10861282
Nat Genet. 2007 Nov;39(11):1329-37
17952073
Arthritis Rheum. 1997 Oct;40(10):1823-8
9336417
Gut. 2007 Aug;56(8):1173-4
17337463
Hum Genet. 2007 Sep;122(2):201-6
17587057
Trends Immunol. 2006 Jan;27(1):17-23
16290228
Arthritis Rheum. 2003 Mar;48(3):791-7
12632434
J Immunol. 2002 Jun 1;168(11):5699-708
12023369
Immunogenetics. 2006 Jan;57(12):934-43
16372191
J Immunol. 2002 Jun 1;168(11):5448-54
12023338
Clin Gastroenterol Hepatol. 2007 Aug;5(8):977-81, 981.e1-2
17678845
Annu Rev Immunol. 2005;23:787-819
15771586
Immunity. 2003 Nov;19(5):641-4
14614851
Am J Hum Genet. 2004 Oct;75(4):587-95
15309690
Hum Immunol. 2007 Aug;68(8):681-4
17678723
Am J Hum Genet. 2007 Feb;80(2):273-90
17236132
Gastroenterology. 2007 May;132(5):1657-64
17484863
Inflamm Bowel Dis. 2005 Jan;11(1):16-23
15674109
Science. 2006 Dec 1;314(5804):1461-3
17068223
PLoS Genet. 2007 Apr 20;3(4):e58
17447842
J Exp Med. 2004 Jan 5;199(1):125-30
14707118
Nat Rev Immunol. 2005 Jul;5(7):521-31
15999093