title: ENOS polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a Chinese Han population.
abstract: 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.
authors.affiliation: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors.forename: Chengguo
authors.initials: C
authors.lastname: Zuo
authors.affiliation: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors.forename: Meng
authors.initials: M
authors.lastname: Li
authors.affiliation: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors.forename: Xiongze
authors.initials: X
authors.lastname: Zhang
authors.affiliation: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors.forename: Hui
authors.initials: H
authors.lastname: Chen
authors.affiliation: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Su
authors.affiliation: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors.forename: Kunfang
authors.initials: K
authors.lastname: Wu
authors.affiliation: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors.forename: Feng
authors.initials: F
authors.lastname: Wen
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D020256:Choroidal Neovascularization / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011127:Polyps / Q000175:diagnosis / Q000235:genetics*; D057135:Wet Macular Degeneration / Q000175:diagnosis / Q000235:genetics*
chemical_list: C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III
keywords: Endothelial nitric oxide synthase; polymorphism; polypoidal choroidal vasculopathy