Endothelial nitric oxide synthase gene intron 4 polymorphism in patients with end-stage renal disease

Buraczyńska, Monika; Ksiazek, Piotr; Załuska, Wojciech; Nowicka, Teresa; Książek, Andrzej

doi:10.1093/ndt/gfh077

Cited by 41 publications

(42 citation statements)

References 16 publications

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“…2-6,13,38 -51 Two articles involved only patients with microalbuminuria, and therefore these articles were excluded. 52,53 The genotype distribution of one study 54 was identical with the one in Nagase et al, 44 and in one study, 55 the subjects overlapped with the subjects of the study by Buraczynska et al 43 Figure 1 presents a flowchart of retrieved studies and studies excluded, with specification of reasons. The studies were published between 1999 and 2008.…”

Section: Eligible Studies and Study Characteristicsmentioning

confidence: 78%

Endothelial nitric oxide synthase gene polymorphisms and diabetic nephropathy: A HuGE review and meta-analysis

Ζιντζαράς

Papathanasiou

Stefanidis

2009

Genetics in Medicine

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Candidate-gene association studies that examined the association between polymorphisms of endothelial nitric oxide synthase (NOS3) gene (G894T, 4b/a, and T786C) and diabetic nephropathy or diabetes leading to severe nephropathy produced inconclusive results. Thus, a meta-analysis of all candidate-gene association studies with endothelial nitric oxide synthase genotyping (7401 cases and 8046 controls) was conducted. Other study designs, such as family-based association studies and genome-wide linkage and association studies were also reviewed for supportive evidence of implication of endothelial nitric oxide synthase gene in diabetic nephropathy. The meta-analysis showed that G894T is significantly associated with diabetic nephropathy and diabetes leading to severe nephropathy in type 2 diabetics and in East Asians, respectively. Concerning the 4b/a polymorphism and its relationship to diabetes leading to severe nephropathy, a significant association was shown for East Asians. Heterogeneity between studies was in general high. There was no differential magnitude of effect in large versus small studies. One genome-wide linkage scan provided evidence of linkage nearby the endothelial nitric oxide synthase locus. Studies exploring gene and environment interactions with endothelial nitric oxide synthase polymorphisms may help understand better the genetics of diabetic nephropathy. Genet Key Words: eNOS, NOS3, G894T, 4b/a, T786C, diabetic nephropathy, diabetes, polymorphism, meta-analysis, genetic epidemiology Gene and gene variantsVascular endothelial nitric oxide (NO) regulates endothelial function and precipitates vasodilatory effects in multiple organs, including the kidney. 1 NO is produced by the oxidation of L-arginine to L-citrulline by NO synthase (NOS). There are three isoforms of NOS: endothelial NOS (eNOS), neuronal NOS, and inducible NOS. 2,3 Each isoform is coded by separate genes with a different pattern of expression. 4 The eNOS gene (NOS3) is located on chromosome 7q35-36, and it comprises 26 exons and 25 introns, with an entire length of 21kb. 4 Variants of eNOS gene contribute to endothelial dysfunction and attenuate the NO production. 5 Dysfunctional eNOS may play a critical role in the pathogenetic pathway, leading to diabetic vascular complications including diabetic nephropathy (DN). 6 Several polymorphisms of the eNOS gene have been identified, and their association with various diseases has been investigated, including coronary artery disease, myocardial infarction, coronary spasm, hypertension, end-stage renal disease (ESRD), and DN. 4,[7][8][9][10] The most clinically relevant polymorphisms that have been described in the eNOS gene 11 are the following: (i) a G894T substitution in exon 7 that results in a Glu to Asp substitution at codon 298, 7 (ii) an insertion-deletion in intron 4 consisting of two alleles (the a-deletion has 4 tandem 27-bp repeats, and the b-insertion has 5 repeats), 12 and (iii) a T786C substitution in the promoter region, which is strongly linked to 4b/a....

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Section: Eligible Studies and Study Characteristicsmentioning

confidence: 78%

Endothelial nitric oxide synthase gene polymorphisms and diabetic nephropathy: A HuGE review and meta-analysis

Ζιντζαράς

Papathanasiou

Stefanidis

2009

Genetics in Medicine

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“…Three polymorphisms in this gene G894T missense mutation (rs1799983), a 27-bp repeat in intron 4, and the T786C single nucleotide polymorphism (SNP) in the promoter (rs2070744) have been found to be associated with diabetic nephropathy susceptibility [26][27][28][29][30] . The G894T variant was found to increase the risk of macroalbuminuria and progression from microalbuminuria to macroalbuminuria, with declining glomerular filtration rate as serum creatinine value rises progressively, culminating in nephropathy [31,32] However, these results have been contradictory and not all studies support this association [33][34][35] .…”

Section: Gene Variants Of Renal Function Componentsmentioning

confidence: 99%

Association of genetic variants with diabetic nephropathy

Rizvi

Raza

Mahdi

2014

WJD

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“…While the larger allele consists of five tandem repeat 27-bp repeats, small allele has four repeats. 28 It was reported that carriers of the 4a allele had lower NO levels than 4b/4b homozygous subjects. 29 The impact of 4 a/b variant of the eNOS gene is still unclear, it has been declared that this variant would regulate the expression of the eNOS gene by the editing of small RNAs (siRNAs).…”

Section: Discussionmentioning

confidence: 98%

The Endothelial Nitric Oxide Synthase Gene Variants as a Risk Factor for Chronic Lymphocytic Leukemia

NURSAL

2017

UHOD

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Nitric oxide (NO) plays complicated roles in carcinogenesis. Endothelial nitric oxide synthase (eNOS) gene is responsible for most of the NO produced. For this reason, it was considered that the eNOS gene variants is associated with cancer suspectibility. The aim of this study was to determine whether eNOS variants (G894T and intron 4 VNTR a/b) affect in Chronic Lymphocytic Leukemia (CLL) risk in Turkish patients. This is a prospective single-center crosssectional study in patients with CLL. A total of 60 CLL patients and 100 healthy controls with similar age and sex were included to this study. Two eNOS gene variants (G894T and intron 4VNTR a/b) were analysed with polymerase chain reaction (PCR) and/or restriction fragment length polymorphism (RFLP) methods. In this study, we found that the TT genotype of eNOS G894T variant was significantly associated with an increased risk in patient with CLL compared with control (OR: 0.867, Cl: 0.785-0.957, p= 0.001). There was not any significant difference in the eNOS G894T allele distribution between the groups (p> 0.05). In addition, no significant difference was detected between the CLL patients and healthy controls with respect to the frequencies of genotypes and alleles in intron 4 VNTR a/b variant of eNOS. eNOS gene variants (G894T and intron 4 VNTR a/b) in CLL patients were simultaneously analyzed for the first time in present study. Our study suggest that the eNOS G894T variant may be associated with the development of CLL in the Turkish population.

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Endothelial nitric oxide synthase gene intron 4 polymorphism in patients with end-stage renal disease

Abstract: There was a significantly higher frequency of the ecNOS4a allele carriers among ESRD patients, both diabetic and non-diabetic, than in control subjects. This suggests that the ecNOS gene polymorphism may be associated with an increased risk of chronic renal failure.

Cited by 41 publications

References 16 publications

Endothelial nitric oxide synthase gene polymorphisms and diabetic nephropathy: A HuGE review and meta-analysis

Endothelial nitric oxide synthase gene polymorphisms and diabetic nephropathy: A HuGE review and meta-analysis

Association of genetic variants with diabetic nephropathy

The Endothelial Nitric Oxide Synthase Gene Variants as a Risk Factor for Chronic Lymphocytic Leukemia

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