RGD Reference Report - Endothelial nitric oxide synthase gene polymorphisms in non-arteritic anterior ischemic optic neuropathy. - Rat Genome Database

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Endothelial nitric oxide synthase gene polymorphisms in non-arteritic anterior ischemic optic neuropathy.

Authors: Sakai, T  Shikishima, K  Matsushima, M  Kitahara, K 
Citation: Sakai T, etal., Graefes Arch Clin Exp Ophthalmol. 2007 Feb;245(2):288-92.
RGD ID: 7775040
Pubmed: PMID:16633797   (View Abstract at PubMed)
DOI: DOI:10.1007/s00417-005-0245-7   (Journal Full-text)

BACKGROUND: To examine the association between the polymorphisms of the endothelial nitric oxide synthase (eNOS) gene and the occurrence of non-arteritic anterior ischemic optic neuropathy (NAION). METHODS: We studied 15 patients with NAION (mean age, 62 years; 60% male). We investigated two polymorphisms of the eNOS gene, Glu298Asp polymorphism of exon 7 and T(-786)C polymorphism of the promoter region. The genotype distribution in NAION was compared with the control (mean age, 63 years; 63% male) distribution. RESULTS: There was no significant difference in the genotype distribution of the Glu298Asp polymorphism between the NAION and control groups (P = 1.000), whereas the genotype dis-tribution of the T(-786)C polymorphism varied significantly between the patients with NAION and control subjects (P = 0.002). After adjusting on covariates, individuals with the CC genotype of the T(-786)C polymorphism were more likely to develop NAION compared with those with TT genotype (odds ratio = 0.09: 95% CI 0.01-0.86). CONCLUSIONS: We found an increased prevalence of T(-786)C polymorphism of the eNOS gene in patients with NAION. Our data suggest that the T(-786)C polymorphism of the eNOS gene may be an important risk factor in the development of NAION in Japanese subjects.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
anterior ischemic optic neuropathy susceptibilityIAGP 7775040DNA:snp:promoter:g.-786T>C (human)RGD 
anterior ischemic optic neuropathy susceptibilityISONOS3 (Homo sapiens)7775040; 7775040DNA:snp:promoter:g.-786T>C (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Marcus Gunn pupil susceptibilityIAGP 7775040DNA:snp:promoter:g.-786T>CRGD 
Papilledema susceptibilityIAGP 7775040DNA:snp:promoter:g.-786T>CRGD 
Visual field defect susceptibilityIAGP 7775040DNA:snp:promoter:g.-786T>CRGD 
Visual loss susceptibilityIAGP 7775040DNA:snp:promoter:g.-786T>CRGD 
Objects Annotated

Genes (Rattus norvegicus)
Nos3  (nitric oxide synthase 3)

Genes (Mus musculus)
Nos3  (nitric oxide synthase 3, endothelial cell)

Genes (Homo sapiens)
NOS3  (nitric oxide synthase 3)


Additional Information