10.6084/m9.figshare.2817844.v1

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

Abstract

<p><i>Purpose</i>: To investigate whether common genetic variants in the endothelial nitric oxide synthase gene (<i>eNOS</i>) are associated with neovascular age-related macular degeneration (nAMD) and polypoidal choroidalvasculopathy (PCV) in a Chinese Han population.</p> <p><i>Methods</i>: DNA samples were obtained from 157 nAMD patients, 250 PCV patients and 204 healthy control subjects. Tag single nucleotide polymorphisms (SNPs) across the extended <i>eNOS</i> 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.</p> <p><i>Results</i>: Seven SNPs for <i>eNOS</i>, 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 (<i>p</i> = 0.0192, 0.0170, and 0.0164, respectively), but not associated with PCV (<i>p</i> = 0.4852, 0.4568, and 0.4014, respectively). The discovered associations were no longer significant after Bonferroni correction.</p> <p><i>Conclusions</i>: We found no sufficient evidence to support the role of any common <i>eNOS</i> variants in the susceptibility to nAMD or PCV in a Chinese Han population.</p

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oai:figshare.com:article/2817844Last time updated on 2/12/2018

This paper was published in FigShare.

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