IL23R Gene Polymorphisms In The Chinese Han Patients With Behcet's Disease, Vogt-Koyanagi-Harada Syndrome And Fuchs' Syndrome

Purpose:IL23R play an important role in the IL23/IL17 pathway. Recently, IL23R polymorphisms have been shown to be associated with several autoimmune diseases. We therefore designed this study to examine whether IL23R polymorphisms were associated with Behcet's disease (BD), Vogt-Koyanagi-Harada (VKH) syndrome and Fuchs syndrome in the Chinese Han population.Methods: Genotyping for IL23R polymorphisms at rs17375018, rs7517847, rs11209032, and rs1343151 loci was performed on 338 Behcet's disease patients, 382 VKH patients 138 Fuchs syndrome and 407 healthy controls using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP).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 signifi cantly 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 signifi cantly 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).All genotype distributions in healthy controls were in Hardy–Weinberg equilibrium. Therewas no difference among the investigated four single nucleotide polymorphisms concerning the linkage disequilibriumbetween the tested samples and those available in the international HapMap. The genotype and allele frequencies of rs17375018, rs7517847, rs11209032, and rs1343151 were not different between patients with VKH syndrome and healthy controls. Analysis according to gender and clinical findings did not show any association of the four polymorphisms with these parameters. All genotype and allele distributions in patients with Fuchs'syndrome and healthy controls were in Hardy–Weinberg equilibrium. The frequency of the rs11209032 AA genotype was significantly increased in patients with Fuchs'syndrome as compared to controls (corrected p [pc]=0.036, OR 1.86, 95%CI 1.21 to 2.86). There were no statistically significant differences between patients and healthy controls concerning the other two tested SNPs (rs17375018 and rs7517847). The haplotypes of the tested SNPs were not different between patients and controls. Additionally, analysis according to gender did not show any influence of sex on the association of IL23R with Fuchs'syndrome.Conclusions: rs17375018 and rs11209032 of IL23R gene are associated with susceptibility to BD. While the AGCG haplotype is protectively associated with BD. IL23R are not associated with the susceptibility to VKH syndrome in the Chinese Han population. Rs11209032 of IL23R are associated with susceptibility to Fuchs syndrome.