Two Genetic Variations in the IRF8 region are associated with Behcet's disease in Han Chinese.

ABSTRACT: Several modulatory factors in the TLR signaling pathway including IRF3, IRF7, IRF8, TRIM20, MYD88 and NF-κB1 have been associated with autoimmune disease. In this study, we investigated the association of 13 SNPs for these genes with Behçet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome using a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. Haplotype and linkage disequilibrium (LD) analysis were performed by Haploview4.2. IRF8 mRNA expression and cytokine production was tested by real-time PCR and ELISA. Two SNPs near IRF8 were associated with BD (for rs17445836 GG genotype, Pc = 9.56 × 10(-8), OR = 2.044; for rs11642873 AA genotype, Pc = 9.24 × 10(-7), OR = 1.776). No significant association was found for the 13 SNPs tested with VKH syndrome.

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC4726413 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature