程序性细胞死亡蛋白1（PDCD1）基因多态性与汉族人交感性眼炎的相关性

Association of a PDCD1 Polymorphism With Sympathetic Ophthalmia in Han Chinese.

作者信息

Deng Jing, Hu Jiayue, Tan Handan, Su Guannan, Cao Qingfeng, Huang Xinyue, Kijlstra Aize, Yang Peizeng

机构信息

The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China.

University Eye Clinic Maastricht, Maastricht, Limburg, The Netherlands.

出版信息

Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4218-4222. doi: 10.1167/iovs.17-22195.

DOI:10.1167/iovs.17-22195

PMID:28846771

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.

摘要

目的

多项研究表明，交感性眼炎（SO）和伏格特-小柳-原田（VKH）病在临床表现方面有许多相似之处。本研究的目的是调查早期研究中已显示与VKH病相关的单核苷酸多态性是否也与SO相关。

方法

一项病例对照研究纳入了114例SO患者和1230例健康对照，对24个与VKH相关的单核苷酸多态性（SNP）进行检测。使用MassARRAY平台和iPLEX Gold检测法进行基因分型。

结果

结果显示，SO患者中PDCD1/rs2227981 GG基因型的频率显著降低（Pc =7.85×10-3，OR = 0.471）。然而，未检测到GA和AA基因型频率有明显增加。此外，在SO患者中检测到PDCD1/rs2227981的G等位基因频率显著降低（Pc = 5.08×10-3，OR = 0.56）。