RGD Reference Report - Association of eNOS polymorphisms with primary angle-closure glaucoma. - Rat Genome Database

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Association of eNOS polymorphisms with primary angle-closure glaucoma.

Authors: Awadalla, MS  Thapa, SS  Hewitt, AW  Craig, JE  Burdon, KP 
Citation: Awadalla MS, etal., Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2108-14. doi: 10.1167/iovs.12-11391.
RGD ID: 7775046
Pubmed: PMID:23422825   (View Abstract at PubMed)
DOI: DOI:10.1167/iovs.12-11391   (Journal Full-text)

PURPOSE: Recently, several studies have investigated genetic associations between Cytochrome P450 (CYP1B1), Endothelial nitric oxide synthase (eNOS), and Neurotrophin-4 (NTF4) with primary angle-closure glaucoma (PACG) in various ethnic groups. We investigated the association of these candidate genes with PACG in samples from Australia and Nepal. METHODS: A total of 235 patients with PACG (106 Nepalese and 129 Australian) and 492 controls (204 Nepalese and 288 Australian) was included. Tag single nucleotide polymorphisms (SNPs) were selected to cover the majority of common variation within the candidate genes and genotyped in DNA extracted from peripheral whole blood. Allele and haplotype analyses were conducted in PLINK. Bonferroni correction was applied for the total number of SNPs in this study (P = 0.05/15 = 0.003). RESULTS: In the Australian cohort, one eNOS SNP rs3793342 showed significance association with PACG after Bonferroni correction (P value of 0.003, odds ratio [OR] 0.5, 95% confidence interval [CI] 0.3-0.8). After adjusting the results for sex and age, SNPs rs3793342 and rs7830 showed significance after Bonferroni correction (P value of 0.001 and 0.003, respectively). The eNOS haplotype of all 7 typed SNPs showed significant association with a global P value of 0.019, with the CGCAATC haplotype giving a specific P value of 0.008 and OR of 1.5 (95% CI 0.9-2.4). In the Nepalese cohort, SNPs in CYP1B1 and NTF4 genes showed borderline association with PACG, but did not survive Bonferroni correction. CONCLUSIONS: Our data support the involvement of common variations in eNOS with PACG pathogenesis. Differences were observed in the two populations studied, and additional replication studies in other populations are necessary to confirm these associations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
angle-closure glaucoma susceptibilityIAGP 7775046DNA:snps:introns:g.IVS5+1182G>A more ...RGD 
angle-closure glaucoma susceptibilityISONOS3 (Homo sapiens)7775046; 7775046DNA:snps:introns:g.IVS5+1182G>A more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Increased cup-to-disc ratio susceptibilityIAGP 7775046DNA:snps:introns:g.IVS5+1182G>A more ...RGD 
Ocular hypertension susceptibilityIAGP 7775046DNA:snps:introns:g.IVS5+1182G>A more ...RGD 
Optic neuropathy susceptibilityIAGP 7775046DNA:snps:introns:g.IVS5+1182G>A more ...RGD 
Peripheral visual field loss susceptibilityIAGP 7775046DNA:snps:introns:g.IVS5+1182G>A more ...RGD 
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