Jing Deng1, Jiayue Hu1, Handan Tan1, Guannan Su1, Qingfeng Cao1, Xinyue Huang1, Aize Kijlstra2, Peizeng Yang1. 1. The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China. 2. University Eye Clinic Maastricht, Maastricht, Limburg, The Netherlands.
Abstract
Purpose: Several studies have shown that sympathetic ophthalmia (SO) and Vogt-Koyanagi-Harada (VKH) disease possess many similarities concerning their clinical manifestations. The aim of this study was to investigate whether single nucleotide polymorphisms that have been shown to be associated with VKH disease 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 single nucleotide polymorphisms (SNPs) were tested. Genotyping was performed using the MassARRAY platform and iPLEX Gold Assay. Results: The results showed a significantly lower frequency of the PDCD1/rs2227981 GG genotype in SO (Pc =7.85 × 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 × 10-3, OR = 0.56). Conclusions: This study shows that only PDCD1/rs2227981 contributes to the genetic susceptibility of SO, and that the other 23 susceptibility loci of VKH disease are probably not involved in the pathogenesis of this disease.
Purpose: Several studies have shown that sympathetic ophthalmia (SO) and Vogt-Koyanagi-Harada (VKH) disease possess many similarities concerning their clinical manifestations. The aim of this study was to investigate whether single nucleotide polymorphisms that have been shown to be associated with VKH disease 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 single nucleotide polymorphisms (SNPs) were tested. Genotyping was performed using the MassARRAY platform and iPLEX Gold Assay. Results: The results showed a significantly lower frequency of the PDCD1/rs2227981 GG genotype in SO (Pc =7.85 × 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 × 10-3, OR = 0.56). Conclusions: This study shows that only PDCD1/rs2227981 contributes to the genetic susceptibility of SO, and that the other 23 susceptibility loci of VKH disease are probably not involved in the pathogenesis of this disease.