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Updated: Jun 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Association of genetic polymorphisms of eNOS with glaucoma
Qiong Liao1, Dai-Hong Wang, Han-Jun Sun
1Department of Ophthalmology, The Affiliated Xinqiao Hospital of the 3rd Military Medical College, Chongqi, P.R. China.
Purpose:
Several studies suggest that vascular dysregulation play a role in the etiology of glaucoma. In the present study, we aimed to investigate the association of endothelial nitric oxide synthase (eNOS) gene polymorphisms with primary open angle glaucoma (POAG) and primary closed angle glaucoma (PCAG).
Methods:
There were 102 POAG and 88 PCAG patients, diagnosed on the basis of clinical history, raised intraocular pressure (IOP), cup-to-disc ratio (CDR) and visual field defects, and 120 age- and sex-matched control subjects genotyped for 5 tagging single nucleotide polymorphisms (SNPs; rs743507, rs3793342, rs11771443, rs7830, and rs3918188) of the human eNOS gene.
Results:
rs3793342, rs743507, rs11771443, rs7830, and rs3918188 were not found to be associated with POAG or with PCAG. In the haplotype-based case-control analysis, the frequency of the C-T haplotype established by rs3793342 and rs11771443 was significantly higher for POAG patients than for control subjects (p<0.001, OR=5.111, 95%CI=1.766~14.788).
Conclusions:
The C-T haplotype established by rs3793342 and rs11771443 may be genetic marks of POAG in the Han Chinese population.
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