RGD Reference Report - Relationship of endothelial nitric oxide synthase (eNOS) gene polymorphisms with diabetic retinopathy in Caucasians with type 2 diabetes. - Rat Genome Database

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Relationship of endothelial nitric oxide synthase (eNOS) gene polymorphisms with diabetic retinopathy in Caucasians with type 2 diabetes.

Authors: Santos, KG  Crispim, D  Canani, LH  Ferrugem, PT  Gross, JL  Roisenberg, I 
Citation: Santos KG, etal., Ophthalmic Genet. 2012 Mar;33(1):23-7. doi: 10.3109/13816810.2011.620057. Epub 2011 Oct 21.
RGD ID: 7777101
Pubmed: PMID:22017289   (View Abstract at PubMed)
DOI: DOI:10.3109/13816810.2011.620057   (Journal Full-text)

BACKGROUND: Nitric oxide synthesized by endothelial nitric oxide synthase (eNOS) plays a key role in the regulation of endothelial function, and controversial results regarding the association of eNOS gene polymorphisms with diabetic complications have been reported. MATERIALS AND METHODS: In this case-control study, the relationship of the -786T/C, the VNTR intron 4 a/b and the 894G/T (Glu298Asp) polymorphisms in the eNOS gene with the presence or severity of diabetic retinopathy was analyzed in 630 Caucasian-Brazilians with type 2 diabetes (434 with and 196 without diabetic retinopathy). Genotyping of eNOS polymorphisms was carried out using the PCR or PCR-RFLP method, and haplotype frequencies were estimated using a Bayesian method. RESULTS: Genotype and allele frequencies in patients with any degree of diabetic retinopathy or proliferative diabetic retinopathy were not significantly different from those of patients without this complication for all eNOS polymorphisms. Likewise, there were no differences in haplotype frequencies among diabetic patients with or without diabetic retinopathy (p values > 0.05 for all comparisons). CONCLUSION: Our findings do not support the hypothesis that the -786T/C, the VNTR intron 4 a/b and the 894G/T (Glu298Asp) polymorphisms in the eNOS gene play a role in the pathogenesis of diabetic retinopathy in type 2 diabetes.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NOS3Humandiabetic retinopathy no_associationIAGP associated with Diabetes Mellitus more ...RGD 
Nos3Ratdiabetic retinopathy no_associationISONOS3 (Homo sapiens)associated with Diabetes Mellitus more ...RGD 
Nos3Mousediabetic retinopathy no_associationISONOS3 (Homo sapiens)associated with Diabetes Mellitus more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NOS3HumanAbnormal fundus fluorescein angiography no_associationIAGP associated with Diabetes Mellitus 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