Abstract
Purpose:
Single nucleotide polymorphisms (SNPs) in the IL23R-IL12RB2 and IL10 gene regions have been found to be associated with several immune-mediated diseases. In this study, we investigated whether the IL23R-IL12RB2 and IL10 gene polymorphisms are associated with Vogt-Koyanagi-Harada (VKH) disease in a Japanese population.
Methods:
A total of 254 Japanese patients with VKH disease and 744 Japanese healthy controls were recruited. We genotyped 10 SNPs in IL23R-IL12RB2 and 6 SNPs in IL10 using TaqMan genotyping assays, and assessed the allelic and genotypic diversity among cases and controls.
Results:
All SNPs were in Hardy-Weinberg equilibrium among both cases and controls. No significant differences in the frequency of alleles and genotypes of the IL23R-IL12RB2 and IL10 SNPs in the cases compared to the controls were detected. Stratification analysis according to clinical features in the eyes, skin, ears, and central nervous system did not show any association of the IL23R-IL12RB2 and IL10 SNPs with any clinical findings.
Conclusions:
Our study showed that the IL23R-IL12RB2 and IL10 polymorphisms had no association with the risk of VKH disease, suggesting that genetic variants in the IL23R-IL12RB2 and IL10 regions may not play an important role in the pathogenesis of VKH disease.
Keywords: 440 candidate gene analysis •
432 autoimmune disease