ENOS polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a Chinese Han population

ABSTRACT

Purpose: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

KEYWORDS:

• Endothelial nitric oxide synthase
• polymorphism
• polypoidal choroidal vasculopathy

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the writing and content of this article.

Funding

This study was supported by the Natural Science Foundation of China (grant number: 81400426 & 81470647), the Fundamental Research Funds for the Central Universities (the Young Teacher Training Project of Sun Yat-sen University, grant number: 15ykpy31), and the Fundamental Research Funds of State Key Laboratory of Ophthalmology.

Additional information

Funding

This study was supported by the Natural Science Foundation of China (grant number: 81400426 & 81470647), the Fundamental Research Funds for the Central Universities (the Young Teacher Training Project of Sun Yat-sen University, grant number: 15ykpy31), and the Fundamental Research Funds of State Key Laboratory of Ophthalmology.