Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Endothelial dysfunction plays an essential role in the development and progression of atherosclerotic lesions. Endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) are considered important molecules in the endothelial dysfunction process. The aim of the present study was to evaluate the role of eNOS and ET-1 (EDN1) gene polymorphisms as susceptibility markers for acute coronary syndrome (ACS). Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs5369) of eNOS and EDN1 genes were analyzed by 5' exonuclease TaqMan genotyping assays in a group of 452 patients with ACS and 283 healthy controls. The results showed increased frequencies of the A allele of the END1-914 C>A (rs3087459) polymorphism in ACS patients when compared to controls (OR=1.56, Pc=0.01). Under an additive model, the "AA" genotype was associated with an increased risk of developing ACS, adjusted for gender, hypertension, dyslipidemia, alcohol consumption, smoking, and diabetes (OR=1.56, p=0.045). Linkage disequilibrium analysis showed one EDN1 haplotype (AT) with increased frequency in ACS patients when compared to healthy controls (OR=1.65, Pc=0.0015). The "AT" haplotype was associated with the risk of developing ACS after adjusting for cardiovascular risk factors using multiple logistic analysis. In this case, the adjusted OR was 1.73 for the AT haplotype (Pc=0.0018). In summary, resulting data suggest that the END1-914 C>A gene polymorphism could be involved in the risk of developing ACS in Mexican individuals.
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PMID:The -974C>A (rs3087459) gene polymorphism in the endothelin gene (EDN1) is associated with risk of developing acute coronary syndrome in Mexican patients. 2403 3

Endothelin-1 (ET-1) is the most potent endogenous vasoconstrictor and is involved in several vascular disorders such as hypertension. Its strong interaction with other vasoactive hormone systems suggests that the ET-1 gene (EDN1) is a potential candidate molecule that influences the risk of developing hypertension. Recently, two single nucleotide polymorphisms in EDN1 have been reported to be associated with hypertension: Lys198Asn and 3A/4A (-134delA) located in the 5'-untranslated region. To determine the association of these two polymorphisms with hypertension, we genotyped patients and controls (N = 537) and compared the allele and genotype frequencies between groups. There was no significant difference in the genotype frequencies of these two polymorphisms between healthy controls and hypertension patients. Although previous reports have revealed a significant interaction between the END1 Lys198Asn (G/T) polymorphism and body mass index in association with hypertension, no such relationship was observed in the present study. Further, we compared blood pressure among hypertensive subjects and observed that neither systolic nor diastolic blood pressure was significantly associated with variations in the genotypes of the two single nucleotide polymorphisms. In summary, these two END1 polymorphisms do not appear to affect the development of hypertension in the Chinese population.
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PMID:Association of endothelin-1 gene polymorphisms with essential hypertension in a Chinese population. 2869 14