Endothelial nitric oxide synthase gene polymorphism in intron 4 affects the progression of renal failure in non-diabetic renal diseases

Wang, Ying; Kikuchi, Shuichi; Suzuki, Hiromichi; Nagase, Sohji; Kôyama, Akio

doi:10.1093/ndt/14.12.2898

Cited by 73 publications

(73 citation statements)

References 19 publications

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“…This is a common SNP associated with a variety of diseases such as hypertension, pre-eclampsia, placental abruption or myocardial infarction (35)(36)(37). On the other hand, eNOS rs2070744 is a C>T conversion within intron 4 and it also has been studied in ovarian cancer and renal diseases (22,38). The wide range of phenotypes displayed by these variations proves the involvement of nitric oxide in multiple pathways, including carcinogenesis and tumor progression (39).…”

Section: Discussionmentioning

confidence: 99%

Genetic analysis of Caveolin-1 and eNOS genes in colorectal cancer

Conde

Ramírez-Lorca²,

López-Jamar³

et al. 2006

Oncol Rep

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Abstract. Caveolae are involved in physical compartmentalization between different groups of signaling events. Its main component, CAV1, modulates different pathways in cellular physiology. The emerging evidence pointing to the role of CAV1 in cancer led us to study whether different alleles of this gene are associated with colorectal cancer (CRC). Since one of the most characterized enzymes regulated by CAV1 is eNOS, we decided to include both genes in this study. We analyzed five SNPs in 360 unrelated CRC patients and 550 controls from the general population. Two of these SNPs were located within eNOS and three within the CAV1 gene. Although haplotype distribution was not associated with CRC, haplotype TiA (CAV1) was associated with familiar forms of CRC (p<0.05). This was especially evident in CRC antecedents and nuclear forms of CRC. If both CG (eNOS) and TiA (CAV1) haplotypes were taken together, this association increased in significance. Thus, we propose that CAV1, either alone or together with eNOS alleles, might modify CRC heritability.

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Section: Discussionmentioning

confidence: 99%

Genetic analysis of Caveolin-1 and eNOS genes in colorectal cancer

Conde

Ramírez-Lorca²,

López-Jamar³

et al. 2006

Oncol Rep

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“…Asakimori et al, in 2001, found a significantly higher frequency of the ecNOS 4a allele in haemodialysis patients, both non-diabetic and diabetic, and therefore suggested that the polymorphism in intron 4 of the ecNOS gene may have influence on the progression of renal disease. Wang et al, in 1999, in their study of 302 subjects with endstage renal disease and 248 healthy controls found a significantly higher frequency of the ecNOS 4a allele in patients with ESRD caused by non-diabetic primary renal diseases. Freedman et al2000 evaluated the role of four NOS gene polymorphisms in ESRD patients and found that the a allele of the ecNOS 4 polymorphism in the NOS gene was associated with all-cause ESRD in probands and their siblings compared with healthy subjects.…”

Section: Discussionmentioning

confidence: 91%

Plasma Total Nitric Oxide and Endothelial Constitutive Nitric Oxide Synthase (ecNOS) Inron 4 Gene Polymorphism: A Study in Children with Chronic Kidney Disease

Elshamaa¹,

Sabry²,

Badr³

et al. 2011

Hemodialysis - Different Aspects

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“…Regarding the other polymorphism (rs1799983), its effect is still controversial since the aspartate substitution at 298 does not seem to have a major effect in modulating eNOS activity in vivo [21], however an association of the T allele with pre-eclampsia [11] and ischemic heart disease [5] was reported strengthening the importance of this polymorphism. Studies with intron 4 VNTR polymorphism revealed an association between the 4a allele with coronary heart disease [16] and renal disease [4,23]. Another study found that eNOS intron 4 VNTR gene polymorphism is related to endothelial dysfunction and vasculopathy in sickle cell disease [19].…”

Section: Discussionmentioning

confidence: 99%

Sickle cell anemia – Nitric oxide related genetic modifiers of hematological and biochemical parameters

Aguiar

Matos

Gil

et al. 2017

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Abstract. BACKGROUND:Sickle cell anemia (SCA) is an inherited blood disorder. SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene. Others genetic modifiers and environmental effects are important for the clinical phenotype. SCA patients present arginine deficiency that contributes to a lower nitric oxide (NO) bioactivity. OBJECTIVE: The aim of this work is to determine the association between hematological and biochemical parameters and genetic variants from eNOS gene, in pediatric SCA patients. METHODS: 26 pediatric SCA patients were genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques in three important eNOS gene polymorphisms -rs2070744, rs1799983 and intron 4 VNTR. RESULTS: Results from this study show a significant statistical association between some parameters and genetic variants: an increased reticulocyte count and high serum lactate dehydrogenase levels were associated with both the rs2070744 TT and the rs1799983 GG genotypes at eNOS gene and high levels of neutrophils were associated with the eNOS4a allele at intron 4 VNTR. CONCLUSIONS: Our results reinforce the importance of NO bioactivity in SCA. We presume that NO, and its precursors might be used as therapy to improve the quality of life of SCA patients.

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Endothelial nitric oxide synthase gene polymorphism in intron 4 affects the progression of renal failure in non-diabetic renal diseases

Cited by 73 publications

References 19 publications

Genetic analysis of Caveolin-1 and eNOS genes in colorectal cancer

Genetic analysis of Caveolin-1 and eNOS genes in colorectal cancer

Plasma Total Nitric Oxide and Endothelial Constitutive Nitric Oxide Synthase (ecNOS) Inron 4 Gene Polymorphism: A Study in Children with Chronic Kidney Disease

Sickle cell anemia – Nitric oxide related genetic modifiers of hematological and biochemical parameters

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