Association Of A TNIP1Polymorphism With Vogt-koyanagi-harada Syndrome But Not With Ocular Behcet’s Disease In Han Chinese

Background：Vogt-Koyanagi-Harada (VKH) syndrome and Beh et’sdisease(BD)，manifesting as a bilateral panuveitis，are two of the mostcommon uveitis entities encountered in China. Human leukocyte antigen(HLA) class genes have been shown to be strongly associated with BD andVKH syndrome in populations with different ethnic backgrounds. However,HLA genes only account for part of the genetic-risk effect for VKHsyndrome or Behcet’s disease, highlighting the fact that much of theheritable basis for these diseases remains unknown and implicating apossible role for non-HLA genes. TNFα-induced protein3interacting withprotein1(TNIP1), is an important regulator of NF-κB activity, playing animportant role in maintaining homeostasis of the immune system, TNIP1are associated with several autoimmune diseases including systemic lupuserythematosus (SLE). The aim of the study was to investigate theassociation of TNIP1gene polymorphisms with VKH syndrome and BD in a Han Chinese population.Objective: The aim of the study was to investigate the association ofTNIP1gene polymorphisms with VKH syndrome and BD in a HanChinese population.Methods: A total of656BD patients,961VKH syndrome patients and1534healthy controls were included in this two-stage case control study.Seven SNPs, including rs17728338, rs7708392, rs10036748, rs3762999,rs999556, rs4958881and rs3792783, belonging to TNIP1were genotypedand analyzed by the polymerase chain reaction-restriction fragment lengthpolymorphism (PCR-RFLP) method. In this two-stage study,377BD,374VKH syndrome patients and480healthy controls were used to find out thesusceptible SNPs in the first stage study. In the second stage study, weadded another279BD and/or587VKH syndrome patients and1054controls to replicate the associated SNPs indentified in the first stage study.The data were analyzed by using the χ2or Fisher’s exact test and correctedby the Bonferroni method. Odds ratios (ORs) and95%confidence intervals(95%CI) were also assessed.Results: Only SNP rs17728338was shown to be associated with VKHsyndrome. A significantly increased frequency of the GG genotype and adecreased frequency of the AG genotype of rs17728338were found inVKH patients (Pc=0.038OR=1.934,95%CI=1.438~2.601). And nosignificant difference was noted in allele or genotype frequencies of rs7708392, rs10036748, rs3762999, rs999556, rs4958881and rs3792783,between VKH patients and healthy controls (Pc>0.05). No significantdifference was noted in allele or genotype frequencies of the tested7SNPsbetween BD patients and healthy controls. According to the extraocularclinical findings did not reveal an association of the tested seven SNPs withBD or VKH syndrome.Conclusion: A TNIP1polymorphism may be a risk factor for VKHsyndrome in Han Chinese, and it may play a protective role in thedevelopment of VKH syndrome in the Chinese Han population.