JAK2and STAT3Polymorphisms In A Han Chinese Population With Behcet's Disease And Vogt-koyanagi-harada Syndrome

Purpose:Janus kinase2(JAK2) and signal transducer and activatorof transcription3(STAT3) polymorphisms have been demonstrated as acommon risk factor for a number of autoimmune diseases. The aim of thisstudy was to investigate the association of JAK2, STAT3polymorphismswith Behcet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndromein a Chinese Han population.Methods: A case-control study was performed in503Chinese BDpatients,737Chinese VKH syndrome patients and615healthy controls.The genotypes of three single-nucleotide polymorphisms (SNPs)(rs10758669, rs7857730, rs10119004) in the JAK2, four SNPs (rs6503695,rs744166, rs2293152and rs12948909) in the STAT3gene were analyzed bypolymerase chain reaction restriction fragment length polymorphism(PCR-RFLP). Ten percent of the samples were sequenced to validate theresult of PCR-RFLP. The chi-square test was used to compare allele and genotype distributions and Bonferroni correction was applied for multiplecomparisons.Results: Our results found a significantly increased frequency of theGG genotype of STAT3rs2293152was significantly higher in patients withBD than that in healthy controls. The results also revealed that there was noassociation between the JAK2and both diseases.Stratification analysis according to tinnitus, alopecia, poliosis, headache,and vitiligo for VKH syndrome and oral ulceration, genital ulceration, skinlesions and arthritis for BD failed to find any association between the testedsingle nucleotide polymorphism and any of the extraocular findings.Conclusions: Our results suggest that STAT3GG genotype ofrs2293152is associated with susceptibility to BD. The three investigatedSNPs of the JAK2gene were not associated with both diseases in theChinese Han populations...