Purpose 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 (pc)<0.001,odds ratio (OR) 1.86, 95% CI 1.39 to 2.49; pc<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 (pc=0.024, OR 1.69, 95% CI 1.21 to 2.35; pc<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 (pc=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.
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Funding This work was supported by the Key Project of the Natural Science Foundation (30630064), Natural Science Foundation Major International (Regional) Joint Research Project (30910103912), National Natural Science Foundation Project (30973242), National Supporting Project of P.R. China (2007BAI18B10), Clinical Key Project of the Ministry of Health of P.R. China, Key Project of the Health Bureau of Chongqing (2008-1-15), Project of Medical Science and Technology of Chongqing (2009115), Key Project of the Natural Science Foundation of Chongqing (CSTC, 2009BA5037) and Chongqing Key Laboratory of Ophthalmology (CSTC, 2008CA5003).
Patient consent Obtained.
Ethics approval This study was conducted with the approval of the Ethical Committee of Chongqing Medical University.
Provenance and peer review Not commissioned; externally peer reviewed.