eNOS gene intron 4 a/b VNTR polymorphism is a risk factor for coronary artery disease in Southern Turkey

Matyar, Selçuk; Attila, Gulen; Acartürk, Esmeray; Akpınar, Onur; İnal, Tamer

doi:10.1016/j.cccn.2004.11.022

Cited by 34 publications

(23 citation statements)

References 33 publications

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“…The allele with 4 repeats is a allele and the allele with 5 repeats is b allele. It is reported in recent years that 27 bp-VNTR polymorphism in eNOS gene locus is related with many kinds of clinic diseases, such as primary hypertension, type 2 diabetes mellitus, cerebral infarction, coronary heart disease, asthma, and other ischemic cardiovascular and cerebrovascular diseases (Benjafield and Morris, 2000;Hoffmann et al, 2005;Matyar et al, 2005;Mearin et al, 2006;Uthra et al, 2007). G894T polymorphism in exon 7 of eNOS gene as a missense mutation, affects eNOS protein and is related with the spasm of coronary arteries, myocardial infarction, primary hypertension, left ventricular hypertrophy, artherosclerosis, erectile dysfunction, and cerebral infarction (Li et al, 2005;Tang et al, 2008;Lee et al, 2007;Antoniades et al, 2007;Reali et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Relationships between endothelial nitric oxide synthase gene polymorphisms and osteoporosis in postmenopausal women

Liu

Zhang

Hou

et al. 2009

J. Zhejiang Univ. Sci. B

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Abstract:Objective: To investigate the relationships between endothelial nitric oxide synthases (eNOS) G894T and 27 bpvariable number tandem repeat (VNTR) gene polymorphisms and osteoporosis in the postmenopausal women of Chinese Han nationality. Methods: In the present study, 281 postmenopausal women from Xi'an urban area in West China were recruited, and divided into osteoporosis, osteopenia, and normal groups according to the diagnostic criteria of osteoporosis proposed by World Health Organization (WHO). The bone mineral density (BMD) values of lumbar vertebrae and left hips were determined by QDR-2000 dual energy X-ray absorptiometry. Blood samples were tested for plasma biochemical indicators including testosterone, estradiol, calcitonin, osteocalcin, and procollagen type I amino-terminal propeptide by enzyme-linked immunosorbent assay (ELISA), tartrate-resistant acid phosphatase by spectrophotometric method, and the content of nitric oxide by Griess method. Genome DNA was extracted from whole blood, and G894T polymorphism of eNOS gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and 27 bp-VNTR polymorphism of eNOS gene was genotyped by PCR method. Then the relationships between genotypes and biochemical indicators, genotypes and osteoporosis, and haplotypes and osteoporosis were analyzed. Results: The average BMD values of the femoral neck, ward's triangle and lumbar vertebrae 1~4 (L1~L4) in the subjects with T/T genotype in eNOS G894T locus were significantly higher than those in the subjects with G/T and G/G genotypes (P<0.05). The average BMD of the femoral neck in the subjects with a/a genotype of eNOS 27 bp-VNTR locus was evidently higher than that in the subjects with b/b genotype (P<0.05). The plasma testosterone and osteocalcin concentrations in the subjects of eNOS G894T G/T genotype were evidently higher than those in the subjects of other genotypes (P<0.05); the plasma estradiol concentration in the subjects of eNOS 27 bp-VNTR a/a genotype was obviously higher than that in the subjects of b/b genotype (P<0.01). eNOS G/G homozygous frequencies in osteoporosis women, osteopenia women, and normal women were 85.37%, 76.38%, and 83.87%, respectively (P>0.05). 0% osteoporosis woman, 0.79% osteopenia women, and 3.23% normal women were eNOS a/a homozygous (P<0.05). The frequencies of eNOS 27 bp-VNTR a allele were 5.33% in the osteoporosis group, 10.24% in the osteopenia group, and 16.13% in the normal group (P<0.05, odds ratio (OR)=0.29, 95% confidence interval (CI)=0.11~0.77), suggesting that a/a genotype and a allele might have protective effects on osteoporosis. The haplotype analysis showed that G-b was 87.7% (214/244) in the osteoporosis group (P<0.05, OR=2.48, 95% CI=1.18~5.18). G-a was 5.3% (13/244) in the osteoporosis group (P<0.05, OR=0.29, 95% CI=0.11~0.77). G-b was a risk factor for osteoporosis, and G-a a protective factor. Conclusion: eNOS G894T G/T genotype influenced the plasma testosterone and osteocalcin concentrations, and ...

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Section: Introductionmentioning

confidence: 99%

Relationships between endothelial nitric oxide synthase gene polymorphisms and osteoporosis in postmenopausal women

Liu

Zhang

Hou

et al. 2009

J. Zhejiang Univ. Sci. B

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“…Yoon et al (42) also identified an association of this polymorphism with the risk (20) suggested that enoS polyporphism was significantly associated with the development of CAD in Korea. An interesting aspect of the results from our study is that they conflict with a study of the same gene polymorphism performed in a different part of turkey (23). the reason for the diverse results of these studies stems not only from the choice of different population sizes but from the use of different selection criteria and effects of such factors as age, race, and geographical and environmental differences.…”

Section: Resultsmentioning

confidence: 56%

“…in addition, Granath et al (12) found no evidence for an association between 27 bp repeat polymorphism of the enoS gene and cAD in the Australian caucasian population. Furthermore, others did not detect a link between this gene variation and cardiovascular events (16,23,29).…”

Section: Resultsmentioning

confidence: 97%

The Role of Endothelial Nitric Oxide Synthase Gene Polymorphism in Clinically Classified Patients with Coronary Artery Disease

Çakır¹,

Mete²

2010

Biotechnology & Biotechnological Equipment

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“…Elevated circulating levels of oxidative products of nitric oxide and myocardial nitric oxide synthetase expression have been seen in patients with heart failure due to contractile dysfunction [57,58]. On the contrary, although many studies showed a relation between eNOS4 gene polymorphism and vascular diseases [58,59], some studies did not detect a link between this gene variation and cardiovascular events [60,61].…”

Section: Discussionmentioning

confidence: 98%

Endothelial nitric oxide synthase gene intron 4 variable number tandem repeat polymorphism in β-thalassemia major

Tantawy¹,

Adly²,

Ismail

et al. 2015

Blood Coagulation &Amp; Fibrinolysis

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Endothelial nitric oxide synthase (eNOS), an enzyme that generates nitric oxide, is a major determinant of endothelial function. Several eNOS gene polymorphisms have been reported as 'susceptibility genes' in various human diseases states, including cardiovascular, pulmonary and renal diseases. We studied the 27-base pair tandem repeat polymorphism in intron 4 of eNOS gene in 60 β-thalassemia major (β-TM) patients compared with 60 healthy controls and assessed its role in subclinical atherosclerosis and vascular complications. Patients were evaluated stressing on transfusion history, splenectomy, thrombotic events, echocardiography and carotid intima-media thickness (CIMT). Analysis of eNOS intron 4 gene polymorphism was performed by PCR. No significant difference was found between β-TM patients and controls with regard to the distribution of eNOS4 alleles or genotypes. The frequency of eNOS4a allele (aa and ab genotypes) was significantly higher in β-TM patients with pulmonary hypertension or cardiomyopathy. Logistic regression analysis revealed that eNOS4a allele was an independent risk factor for pulmonary hypertension in β-TM patients [odds ratio (OR) 2.2, 95% confidence interval (95% CI) 1.19-5.6; P < 0.001]. We suggest that eNOS intron 4 gene polymorphism is related to endothelial dysfunction and subclinical atherosclerosis and could be a possible genetic marker for prediction of increased susceptibility to cardiovascular complications.

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eNOS gene intron 4 a/b VNTR polymorphism is a risk factor for coronary artery disease in Southern Turkey

Cited by 34 publications

References 33 publications

Relationships between endothelial nitric oxide synthase gene polymorphisms and osteoporosis in postmenopausal women

Relationships between endothelial nitric oxide synthase gene polymorphisms and osteoporosis in postmenopausal women

The Role of Endothelial Nitric Oxide Synthase Gene Polymorphism in Clinically Classified Patients with Coronary Artery Disease

Endothelial nitric oxide synthase gene intron 4 variable number tandem repeat polymorphism in β-thalassemia major

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