Association Of PDCD1 Polymorphism With Sympathetic Ophthalmia In Han Chinese

Background:Several studies have shown that sympathetic ophthalmia(SO)and Vogt-Koyanagi-Harada(VKH)syndrome possess many similarities concerning their clinical manifestations.The aim of this study was to investigate whether single nucleotide polymorphisms which have been shown to be associated with VKH syndrome in earlier studies may also be associated with SO.Methods:There were 114 SO patients and 1230 healthy controls included in a case-control study,whereby 24 VKH related SNPs in nineteen genes including CTLA-4,PDCD1,STAT4,IL-17F,OPN,JAK1,TNFAIP3,MIF,FGFR1OP,IL-12B,TNIP 1,TRAF5,TRAF3IP2,miR-182,PTPN22,CLEC16A,L23R-C1orfl41,ADO-ZNF365-EGR2 and AGT10 were tested using the The Sequenom MassARRAY system or TaqMan(?)SNP Genotyping Assay.Results:The results showed a significantly lower frequency of the PDCD1/rs2227981 GG genotype in SO(Pc =7.85 x 10 3,OR = 0.471).However no apparent increase in the GA and AA genotype frequency was detected.Moreover,a significant decrease in the G allele frequency of PDCD1/rs2227981 was detected in SO(Pc = 5.08 x 10-3,OR = 0.56).There was no association of the other 23 SNPs in 18 genes with SO.Conclusion:This study shows that only PDCD1/rs2227981 contributes to the genetic susceptibility of SO,and that the other 23 susceptibility loci of VKH syndrome are apparently not involved in the pathogenesis of this disease.