IL-23R gene confers susceptibility to Behcet's disease in a Chinese Han population.
OBJECTIVE
IL-23 has been shown to be involved in the pathogenesis of Behcet's disease (BD) through promoting IL-17 production. This study examined whether IL-23R polymorphisms were associated with susceptibility to this disease in a Chinese Han population.


METHODS
Four single-nucleotide polymorphisms (SNP), rs7517847, rs11209032, rs 1343151 and rs17375018 were genotyped in 338 BD patients and 407 age, sex and ethnically matched healthy controls using a PCR restriction fragment length polymorphism assay.


RESULTS
A significantly increased prevalence of the homozygous rs17375018 GG genotype and G allele was found in BD patients compared with controls (corrected p (p(c))<0.001,odds ratio (OR) 1.86, 95% CI 1.39 to 2.49; p(c)<0.001, OR 1.57, 95% CI 1.25 to 1.98, respectively). The frequencies of the AA genotype and A allele of the SNP rs11209032 were significantly higher in BD patients compared with controls (p(c)=0.024, OR 1.69, 95% CI 1.21 to 2.35; p(c)<0.001, OR 1.48, 95% CI 1.21 to 1.82, respectively). In addition, the results showed a significantly decreased frequency of the AGCG haplotype in BD patients compared with controls (p(c)=0.0016, OR 0.59, 95% CI 0.45 to 0.77).


CONCLUSIONS
This study, for the first time, identified a strong association of an SNP of IL-23R, rs17375018, with BD. The results also suggested that both rs11209032 AA and rs17375018 GG of IL-23R are predisposing genotypes for BD and that the AGCG haplotype may provide protection against BD.
Jiang
Zhengxuan
Z
The First Affiliated Hospital, Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing 400016, PR China.
Yang
Peizeng
P
Hou
Shengping
S
Du
Liping
L
Xie
Lin
L
Zhou
Hongyan
H
Kijlstra
Aize
A
D000328:Adult; D044466:Asian People / Q000235:genetics; D001528:Behcet Syndrome / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018123:Receptors, Interleukin / Q000235:genetics*; D055815:Young Adult
C515500:IL23R protein, human; D018123:Receptors, Interleukin