Association of the Glu298Asp Polymorphism in the Endothelial Nitric Oxide Synthase Gene with Essential Hypertension Resistant to Conventional Therapy

Jáchymová, M; Horký, K; Bultas, Jan; Kožich, Viktor; Jindra, A; Peleskã, Jan; Martásek, Pavel

doi:10.1006/bbrc.2001.5007

Cited by 98 publications

(66 citation statements)

References 37 publications

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“…Nitric oxide (NO) is known to be able to diffuse from the vascular endothelium to the smooth muscle cells in the vessel wall, where it activates soluble guanylate cyclase, sequentially leading to the relaxation of the vascular smooth muscle cell and to vasodilatation. Recently, increasing evidence suggests that polymorphisms of the endothelial NO synthase (eNOS) gene are associated with human EH, and certain genetic variations have been found among different ethnicities (Miyamoto et al, 1998;Benjafield and , 2000;Jachymova et al, 2001;Zhao et al, 2006;Khawaja et al, 2007;Periaswamy et al, 2008;Srivastava et al, 2008;Tang et al, 2008;Patkar et al, 2009;Li et al, 2011;Li, 2011;Men et al, 2011). eNOS is expressed in the endothelium and is encoded by a gene located on chromosome 7q35-36, comprising 26 exons that span 21 kb (Bonnardeaux et al, 1995).…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with susceptibility to essential hypertension in the Chinese Hui ethnic population

Yang

Xu²,

Liu³

et al. 2013

Genet. Mol. Res.

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ABSTRACT.We investigated a possible association of polymorphism of the eNOS gene and essential hypertension in the Chinese Hui population; polymorphisms of rs2070744 (T>C), rs1799983 (G>T), rs1800780 (A>G), and rs3918181 (A>G) loci of the eNOS gene were examined. We found that the genotypic frequencies at rs1799983 and rs1800780 loci differed significantly between patients with essential hypertension and control cohorts. The allelic frequency of the rs1799983 locus also differed significantly between essential hypertension patients and non-essential hypertension controls in this population. Additionally, the G allele of the rs1799983 locus was less frequent in the essential hypertension patients than in controls, with an odds ratio (OR) value of 3.851 [95% confidence interval (95%CI) = 2.236-6.631]. This is an indication of a protective factor of essential hypertension in Chinese Hui people. Haplotype analysis using the 4 SNPs revealed 15 haplotypes. Haplotype frequencies of . We conclude that polymorphism of the eNOS gene is associated with susceptibility to essential hypertension in the Chinese Hui population.

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Section: Introductionmentioning

confidence: 99%

Polymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with susceptibility to essential hypertension in the Chinese Hui ethnic population

Yang

Xu²,

Liu³

et al. 2013

Genet. Mol. Res.

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“…This variant has been associated with an array of clinical conditions, including coronary spasm (Nakayama et al 1999), emphysema (Novoradovsky et al 1999), asthma (Grasemann et al 2000) and essential hypertension (Jachymova et al 2001).…”

Section: Introductionmentioning

confidence: 99%

The Glu298Asp variant of the endothelial nitric oxide synthase gene is associated with an increased risk for abruptio placentae in pre-eclampsia

2005

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Attempts to define a pre-eclampsia susceptibility profile have been hampered by the wide clinical spectrum of the condition and the complex genetics underlying it. Genes that modulate blood pressure, fluid homeostasis and placental vascular development have been considered plausible candidates. Among these are the angiotensinogen (AGT) gene variant Met235Threo, which has been associated with pre-eclampsia and the endothelial nitric oxide synthase (eNOS) polymorphism Glu298Asp, which has been associated with both preeclampsia and abruptio placentae, a condition that often co-exists with pre-eclampsia. The aim of this study was to investigate a potential association between these gene variants and pre-eclampsia with and without abruptio placentae in a South African patient group. Fifty primigravidas with early onset, severe pre-eclampsia, 50 women presenting primarily with abruptio placentae (whether associated with pre-eclampsia or not) and a control panel of 50 healthy pregnant women constituted the study groups. The Met235Threo and Glu298Asp variants were characterised by polymerase chain reaction and restriction enzyme analysis. No association was demonstrated between the M235T variant of the AGT gene and pre-eclampsia or abruptio placentae. In contrast, the combined frequency of the eNOS variant genotypes (GT and TT) was significantly higher in the abruptio placentae group (49%) than the control group (21%) (p=0.006). Furthermore, in the pre-eclampsia patients who subsequently developed abruptio placentae, the eNOS GT genotype emerged as a major risk factor for the development of abruptio placentae (p<0.0001). These data suggest that the presence of a Glu298Asp eNOS variant may pre-dispose a preeclamptic woman to develop abruptio placentae or that it is a marker for predisposition.

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“…1,2 Prevalence of 'true' resistant hypertension (excluding secondary causes of hypertension, white coat hypertension, inadequate doses and so on) is about 5% in the general hypertensive population. 3 A few studies have evaluated genetic determinants of refractory hypertension [4][5][6] but others suggest that it occurs as a result of poor treatment adherence or suboptimal therapy. 1 It has been recently observed that stroke-prone spontaneously hypertensive rats had significantly reduced levels of glutathione S-transferase (GST) (m type 1) M1 expression.…”

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confidence: 99%

An association between resistant hypertension and the null GSTM1 genotype

et al. 2009

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Association of the Glu298Asp Polymorphism in the Endothelial Nitric Oxide Synthase Gene with Essential Hypertension Resistant to Conventional Therapy

Cited by 98 publications

References 37 publications

Polymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with susceptibility to essential hypertension in the Chinese Hui ethnic population

Polymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with susceptibility to essential hypertension in the Chinese Hui ethnic population

The Glu298Asp variant of the endothelial nitric oxide synthase gene is associated with an increased risk for abruptio placentae in pre-eclampsia

An association between resistant hypertension and the null GSTM1 genotype

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