Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.
Retina. 2012 Oct;32(9):1967-72. doi: 10.1097/IAE.0b013e31824dae04.
To investigate the association between single-nucleotide polymorphisms in the pi isoform of glutathione S-transferase (GSTP1) gene and the risk of exudative age-related macular degeneration (AMD) in a Chinese case-control cohort.
A total of 131 Chinese patients with exudative AMD and 138 control individuals were recruited. Genomic DNA was extracted from venous blood leukocytes. Two common nonsynonymous single-nucleotide polymorphisms in GSTP1 (rs1695 and rs1138272) were genotyped by polymerase chain reaction followed by allele-specific restriction enzyme digestion and direct sequencing.
Significant association with exudative AMD was detected for single-nucleotide polymorphism, rs1695 (P = 0.019). The risk G allele frequencies were 21.8% in AMD patients and 12.7% in control subjects (P = 0.007). Compared with the wild-type AA genotype, odds ratio for the risk of AMD was 1.91 (95% confidence interval, 1.09-3.35) for the heterozygous AG genotype and 2.52 (95% confidence interval, 0.6-10.61) for the homozygous GG genotype. In contrast, rs1138272 was not associated with exudative AMD (P = 1.00). The risk G allele frequencies of rs1138272 were 0.4% in AMD patients and 0.4% in control subjects (P = 1.00).
Our data suggest that the GSTP1 variant rs1695 moderately increases the risk of exudative AMD. The variant rs1138272 was rare and was not associated with exudative AMD in this Chinese cohort.
研究谷胱甘肽 S-转移酶（GSTP1）π同工型基因单核苷酸多态性与中国渗出性年龄相关性黄斑变性（AMD）患者风险之间的关联。
共纳入 131 例渗出性 AMD 患者和 138 例对照者。从静脉血白细胞中提取基因组 DNA。采用聚合酶链反应（PCR）后等位基因特异性限制性内切酶消化和直接测序法检测 GSTP1 中两个常见的非同义单核苷酸多态性（rs1695 和 rs1138272）。
rs1695 单核苷酸多态性与渗出性 AMD 显著相关（P = 0.019）。AMD 患者的 G 等位基因频率为 21.8%，对照组为 12.7%（P = 0.007）。与野生型 AA 基因型相比，杂合 AG 基因型发生 AMD 的风险比为 1.91（95%置信区间，1.09-3.35），纯合 GG 基因型为 2.52（95%置信区间，0.6-10.61）。相比之下，rs1138272 与渗出性 AMD 无关（P = 1.00）。rs1138272 的 G 等位基因频率在 AMD 患者和对照组中分别为 0.4%和 0.4%（P = 1.00）。
我们的数据表明 GSTP1 变异 rs1695 适度增加了渗出性 AMD 的风险。在该中国队列中，变异 rs1138272 罕见且与渗出性 AMD 无关。
