RGD Reference Report - Hyperhomocysteinemia, endothelial nitric oxide synthase polymorphism, and risk of coronary artery disease. - Rat Genome Database

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Hyperhomocysteinemia, endothelial nitric oxide synthase polymorphism, and risk of coronary artery disease.

Authors: Kerkeni, M  Addad, F  Chauffert, M  Myara, A  Ben Farhat, M  Miled, A  Maaroufi, K  Trivin, F 
Citation: Kerkeni M, etal., Clin Chem. 2006 Jan;52(1):53-8. Epub 2005 Nov 10.
RGD ID: 7771567
Pubmed: PMID:16284093   (View Abstract at PubMed)
DOI: DOI:10.1373/clinchem.2005.057950   (Journal Full-text)

BACKGROUND: Hyperhomocysteinemia is an independent, graded risk factor for coronary artery disease (CAD). The G894T variant of endothelial nitric oxide synthase (eNOS) was postulated to be associated with hyperhomocysteinemia and could influence individual susceptibility to CAD. The aims of this study were to investigate (a) the relationship of the eNOS G894T polymorphism with the presence and the severity of CAD and (b) the possible relationship between hyperhomocysteinemia and the eNOS G894T variant for the risk of CAD severity in a Tunisian population. METHODS: We used PCR with restriction fragment length polymorphism analysis to detect the G894T variant of the eNOS gene in 100 patients with CAD and 120 healthy controls. The severity of CAD was expressed by the number of affected vessels. Total plasma homocysteine concentrations were determined by direct chemiluminescence assay. RESULTS: The frequencies of the eNOS GG, GT, and TT genotypes in the CAD group were significantly different from those in the control group (45%, 44%, and 11% vs 60%, 35.8% and 4.2%, respectively; P = 0.035). There was no association between the eNOS G894T genotype frequencies and the number of stenosed vessels (P = 0.149). In the CAD group, the coexistence of the 894 GT or TT genotypes and hyperhomocysteinemia led to an increased risk of CAD severity. CONCLUSION: The G894T polymorphism of the eNOS gene is associated with the presence of CAD, and in conjunction with hyperhomocysteinemia, increased the risk of CAD severity in a Tunisian population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
coronary artery disease susceptibilityIAGP 7771567DNA:snp:cds:c.894G>T (human)RGD 
coronary artery disease susceptibilityISONOS3 (Homo sapiens)7771567; 7771567DNA:snp:cds:c.894G>T (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Arterial stenosis susceptibilityIAGP 7771567DNA:snp:cds:c.894G>T 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