T-786C variation in the promoter sequence of human &lt;i&gt;eNOS&lt;/i&gt; gene markedly influences its expression level

Elakkad, Aliaa M; Abou-Aisha, Khaled; Hassanein, Sally I.

doi:10.5582/ddt.2016.01083

Cited by 8 publications

(10 citation statements)

References 20 publications

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“…In the clinical arena, it is well understood that functional manifestations of these three genes (eNOS, ACE and VEGFA) strongly impact endothelial function by inducing NO bioavailability in the endothelium, generation of super oxide anions that degrade NO and induce angiogenesis [17,[21][22][23][24][25]. Functional SNPs along with other significant candidates for each gene were selected on the basis of three points; (i) these SNPs should have been earlier verified by submitted information on the reference SNP collection databank at dbSNP (http://www.ncbi.nlm.nih.gov/snp), (ii) these SNPs should have been formerly identified as having an association with endothelial dysfunction (iii) all the SNPs should have been polymorphic with minor allele frequency > 0.05.…”

Section: Selection Of the Snps And Genotypingmentioning

confidence: 99%

“…Alluding to these findings, it is evident that a clinically viable link exists between hormone levels, osteoporosis and endothelial dysfunction. Clinical reports have recognized that hormonal deficiency regulates endothelial dysfunction [14,15], but whether such a link is detrimental to bone mass has largely been undefined so far except for a few findings [16,17].…”

Section: Introductionmentioning

confidence: 99%

“…It is 21 kb gene that contains 26 exons and mapped to 7q35-36. Amongst several polymorphisms within and around this gene, single nucleotide polymorphism (SNP); rs2070744 (−786T/C) has been observed to be functional and have significant influence on NO production [17].…”

Section: Introductionmentioning

confidence: 99%

“…Many reports have analysed independently the role and contribution of these three pertinent candidates-eNOS, ACE and VEGFA genes-in vascular function [17,21,25]. These genes regulate endothelial function in various systems of the body through different mechanisms, especially in cardiovascular pathology, but their participation in bone vasculature remains elusive.…”

Section: Introductionmentioning

confidence: 99%

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Genetic Scores of eNOS, ACE and VEGFA Genes Are Predictive of Endothelial Dysfunction Associated Osteoporosis in Postmenopausal Women

Singh

Khinda

et al. 2021

IJERPH

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The present study aimed to examine the participation and contribution of endothelial nitric oxide synthase (eNOS), angiotensin converting enzyme (ACE) and vascular endothelial growth factor (VEGFA) genes for the risk of endothelial dysfunction (ED)-associated osteoporosis risk in postmenopausal women of Punjab, India. Women with ED were categorized into women with osteoporosis (n = 346) and women without osteoporosis (n = 330). They were examined for selected SNPs within eNOS, ACE and VEGFA genes. Linear regression analysis revealed a positive association of ED with bone mineral densities (BMDs) at femoral neck (r2 = 0.78, p < 0.001) and lumbar spine (r2 = 0.24, p = 0.001) after Bonferroni correction. Three susceptibility haplotypes were exposed within eNOS (CTAAAT), ACE (ACDG) and VEGFA (GATA) genes. Bearers of CTAAAT (OR 2.43, p = 0.007), ACDG (OR 2.50, p = 0.002) and GATA (OR 2.10, p = 0.009) had substantial impact for osteoporosis after correcting the effects with traditional risk factors (TRD).With uncertainty measure (R2h) and Akaike information criterion (AIC), best fit models showed that CTAAAT manifested in multiplicative mode (β ± SE: 2.19 ± 0.86, p < 0.001), whereas ACDG (β ± SE: 1.73 ± 0.54, p = 0.001) and GATA (β ± SE: 3.07 ± 0.81, p < 0.001) expressed in dominant modes. Area under receiver operating characteristic curve using weighted risk scores (effect estimates) showed substantial strength for model comprising TRD + GATA (AUC = 0.8, p < 0.001) whereas, model comprising TRD + GATA + CTAAAT exhibited excellent ability to predict osteoporosis (AUC = 0.824, p < 0.001)

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Section: Selection Of the Snps And Genotypingmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Genetic Scores of eNOS, ACE and VEGFA Genes Are Predictive of Endothelial Dysfunction Associated Osteoporosis in Postmenopausal Women

Singh

Khinda

et al. 2021

IJERPH

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show abstract

“…Few points need to be considered when interpreting our findings. First, previous experimental studies demonstrated that all investigated polymorphisms were correlated with altered gene expression or protein structure of eNOS (AlFadhli, ; Dosenko, Zagoriy, Haytovich, Gordok, & Moibenko, ; Elakkad, Abou‐Aisha, Hassanein, & Gad, ). To be brief, the rs2070744 polymorphism is associated with a thymine to cytosine mutation at coden‐786 in the 5′‐flanking region of the eNOS gene, which can significantly reduce eNOS gene expression.…”

Section: Discussionmentioning

confidence: 99%

eNOS rs2070744 polymorphism might influence predisposition to hemorrhagic cerebral vascular diseases in East Asians: A meta‐analysis

Wang¹,

Sun²,

Xin³

et al. 2020

Brain and Behavior

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Introduction Endothelial nitric oxide synthase (eNOS) polymorphisms might influence predisposition to hemorrhagic cerebral vascular diseases, but the results of already published studies regarding relationship between eNOS polymorphisms and hemorrhagic cerebral vascular diseases were still controversial. Methods The authors performed this meta‐analysis to estimate relationship between eNOS polymorphisms and hemorrhagic cerebral vascular diseases in a larger pooled population by combing the results of already published related studies. The authors searched Pubmed, Embase, Web of Science, and CNKI for already published studies. Results Eighteen already published studies were pooled analyzed in this meta‐analysis. The pooled meta‐analyses results showed that eNOS rs2070744 polymorphism was significantly associated with predisposition to hemorrhagic cerebral vascular diseases in East Asians (dominant comparison: OR = 0.77, p = .01; overdominant comparison: OR = 1.24, p = .04; allele comparison: OR = 0.78, p = .006) Nevertheless, the pooled meta‐analyses did not reveal any positive results for eNOS rs1799983 and rs869109213 polymorphisms. Conclusions This meta‐analysis suggested that eNOS rs2070744 polymorphism, but not rs1799983 and rs869109213 polymorphisms, might influence predisposition to hemorrhagic cerebral vascular diseases in East Asians.

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Association between nitric oxide synthase (NOS3) gene polymorphisms and diabetic nephropathy: An updated meta-analysis

Dobrijević,

Stevanović,

Robajac

et al. 2024

Molecular and Cellular Endocrinology

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T-786C variation in the promoter sequence of human <i>eNOS</i> gene markedly influences its expression level

Cited by 8 publications

References 20 publications

Genetic Scores of eNOS, ACE and VEGFA Genes Are Predictive of Endothelial Dysfunction Associated Osteoporosis in Postmenopausal Women

Genetic Scores of eNOS, ACE and VEGFA Genes Are Predictive of Endothelial Dysfunction Associated Osteoporosis in Postmenopausal Women

eNOS rs2070744 polymorphism might influence predisposition to hemorrhagic cerebral vascular diseases in East Asians: A meta‐analysis

Association between nitric oxide synthase (NOS3) gene polymorphisms and diabetic nephropathy: An updated meta-analysis

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