Genetic Polymorphism Of Interleukin-1 Family And Interleukin-1 Receptor Family Genes In Behcet's Disease And Vogt-koyanagi-harada Syndrome In Han Chinese

Interleukin-1(IL-1)and the IL-1 receptor(IL-1R)family play an important role in the pathogenesis of inflammatory disease.This study aimed to investigate the association between single nucleotide polymorphisms(SNP)of IL-1 and IL-1R family genes with Vogt-Koyanagi-Harada(VKH)and Behcet's disease(BD)in Han Chinese.The case-control study was divided into two stages and included 419 VKH cases,1063 BD cases and 1872 healthy controls.The MassARRAY platform(Sequenom),iPLEX Gold Assay and TaqMan SNP assays were used to score genotypes of 24 SNPs.The expression of IL-37 and IL-18 Rap was measured by ELISA and real-time PCR in genotyped healthy individuals.A significantly lower frequency of the AG genotype,and a higher frequency of the GG genotype and G allele of the IL-37/rs3811047 were observed in BD as compared to controls.AA genotype and A allele frequency of IL-18RAP/rs2058660 was significantly decreased in BD ascompared to controls.Functional studies performed in healthy controls showed that rs3811047 AG genotype carriers had a higher IL-37 gene expression in PBMCs than GG carriers.GG carriers showed a higher cytokine expression as compared to AG carriers.No association was detected between the tested SNPs and VKH.