Zuo Chengguo, Li Meng, Zhang Xiongze, Chen Hui, Su Yu, Wu Kunfang, Wen Feng
a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
Ophthalmic Genet. 2016 Dec;37(4):394-399. doi: 10.3109/13816810.2015.1107598. Epub 2016 Feb 25.
To investigate whether common genetic variants in the endothelial nitric oxide synthase gene (eNOS) are associated with neovascular age-related macular degeneration (nAMD) and polypoidal choroidalvasculopathy (PCV) in a Chinese Han population.
DNA samples were obtained from 157 nAMD patients, 250 PCV patients and 204 healthy control subjects. Tag single nucleotide polymorphisms (SNPs) across the extended eNOS region were selected using data derived from the HapMap project. Genotyping of each tag SNP was performed by Multiplex SNaPshot system and direct DNA sequencing techniques. Genotypes and allele frequencies were evaluated with PLINK software for each group.
Seven SNPs for eNOS, rs1799983, rs1800783, rs3918186, rs3800787, rs3918188, rs7830, and rs3918227, were chosen as tag SNPs. Among these tag SNPs, rs1800783, rs3918186, rs3918188, and rs3918227 were not associated with nAMD or PCV. Rs1799983, rs3800787, and rs7830 was significantly associated with nAMD (p = 0.0192, 0.0170, and 0.0164, respectively), but not associated with PCV (p = 0.4852, 0.4568, and 0.4014, respectively). The discovered associations were no longer significant after Bonferroni correction.
We found no sufficient evidence to support the role of any common eNOS variants in the susceptibility to nAMD or PCV in a Chinese Han population.
研究内皮型一氧化氮合酶基因（eNOS）的常见基因变异是否与中国汉族人群的新生血管性年龄相关性黄斑变性（nAMD）及息肉状脉络膜血管病变（PCV）相关。
从157例nAMD患者、250例PCV患者及204例健康对照者中获取DNA样本。利用国际人类基因组单体型图计划（HapMap计划）的数据，选择扩展eNOS区域的标签单核苷酸多态性（SNP）。通过多重SNaPshot系统和直接DNA测序技术对每个标签SNP进行基因分型。使用PLINK软件评估每组的基因型和等位基因频率。
选择了7个eNOS的SNP，即rs1799983、rs1800783、rs3918186、rs3800787、rs3918188、rs7830和rs3918227作为标签SNP。在这些标签SNP中，rs1800783、rs3918186、rs3918188和rs3918227与nAMD或PCV无关。rs1799983、rs3800787和rs7830与nAMD显著相关（p值分别为0.0192、0.0170和0.0164），但与PCV无关（p值分别为0.4852、0.4568和0.4014）。经Bonferroni校正后，发现的关联不再显著。
我们没有找到充分的证据支持在中国汉族人群中，任何常见的eNOS变异在nAMD或PCV易感性中发挥作用。
