T−786→C mutation in the 5′-flanking region of the endothelial nitric oxide synthase gene is associated with myocardial infarction, especially without coronary organic stenosis

Nakayama, Masafumi; Yasue, Hirofumi; Yoshimura, Michihiro; Shimasaki, Yukio; Ogawa, Hisao; Kugiyama, Kiyotaka; Mizuno, Yuji; Harada, Eisaku; Nakamura, Shota; Ito, Taeko; Saito, Yoshihiko; Miyamoto, Yoshihiro; Ogawa, Yoshihiro; Nakao, Kazuwa

doi:10.1016/s0002-9149(00)01041-9

Cited by 135 publications

(98 citation statements)

References 14 publications

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“…Our results show significantly higher expression levels of eNOS for the T/T genotype compared to the other two genotypes; a T to C mutation resulted in 1.7~1.9-fold lower expression levels of the gene. In agreement with our findings, earlier in vitro observations suggested that the replacement of a T at position -786 by a C resulted in ~50% lower transcriptional activity (13,14).…”

Section: Discussionsupporting

confidence: 93%

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

Elakkad

Abou-Aisha

Hassanein

2017

DD&T

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Section: Discussionsupporting

confidence: 93%

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

Elakkad

Abou-Aisha

Hassanein

2017

DD&T

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“…Recently we also reported that the T-786-C variant is strongly associated with coronary artery spastic angina (odds ratio of 6.0) (10) and acute myocardial infarction without organic coronary artery stenosis (14) . We also revealed that replication protein Al, known as a singlestranded DNA binding protein responsible for DNA replication, recombination and repair, binds to the T786-'Cmutant eNOS allele and functions as a repressor to reduce eNOS gene transcription (15).…”

Section: Discussionmentioning

confidence: 92%

Lack of Association between T-786.RAR.C Mutation in the 5'-Flanking Region of the Endothelial Nitric Oxide Synthase Gene and Essential Hypertension.

et al. 2000

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Accumulating evidence strongly suggests that an alteration in nitric oxide metabolism is involved in the pathogenesis of hypertension. We recently found 2 polymorphisms in the endothelial nitric oxide synthase (eNOS) gene, a GIu298Asp missense variant in exon 7 and a T-786-'C variant in the 5'-flanking region, which are not linked to each other. In our previous reports, we showed a positive association between the GIu298Asp variant and essential hypertension, myocardial infarction, and coronary spastic angina. We also revealed that the T-786-+C variant is strongly associated with coronary spastic angina and leads to the reduction of the eNOS gene promoter activity. To further investigate the genetic involvement of the eNOS gene in essential hypertension, we examined the frequency of T-786-.C variant in two independent populations of persons with essential hypertension in Kyoto (n=215) and Kumamoto (n=186) and compared the frequency with that in each age-and gender-matched control (233 controls in Kyoto and 223 controls in Kumamoto). In both groups, the frequency of T-786-C variant was similar in patients with hypertension and normal controls. In conclusion, the T-786-+C variant was not positively associated with essential hypertension. Given the evidence of positive association of another polymorphism in the eNOS gene, the GIu298Asp polymorphism, with essential hypertension, special attention will be required to interpret the results of a case-control study for genetic risk factors. (Hypertens Res 2000; 23: 561-565)

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“…Some reports showed that the -786 T/C polymorphism was significantly associated with cardiovascular diseases. 13,14 In the current study, we hypothesized that eNOS polymorphisms were associated with FHON and investigated microstellate polymorphisms in intron 4 and Glu298Asp of eNOS gene in Korean patients with nontraumatic FHON. 15 and plain radiographs in stages 2, 3, and 4.…”

Section: Introductionmentioning

confidence: 99%

Endothelial nitric oxide synthase gene polymorphisms in patients with nontraumatic femoral head osteonecrosis

Koo

Lee

et al. 2006

Journal Orthopaedic Research

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As endothelial nitric oxide synthase (eNOS) has beneficial effects on skeletal, vascular, and thrombotic systems, the association between nontraumatic femoral head osteonecrosis (FHON) and eNOS gene polymorphisms was investigated in Korean patients with FHON. Genomic DNA from 103 patients with nontraumatic FHON (idiopathic in 50, steroid-induced in 29, and alcohol abuse in 24) and 103 control subjects matched for gender and age (3-year range) was analyzed for the 27-bp repeat polymorphism in intron 4 and Glu298Asp polymorphism in exon 7. The frequencies of alleles and genotypes were compared between patients and control subjects. The frequency of 4a allele was significantly higher in total patients than control subjects [6.8% vs. 2.4%, p ¼ 0.0345, odds ratio (OR) 2.931]. In subgroup analysis, the 4a allele significantly increased in patients with idiopathic FHON versus control subjects (9.0% vs. 2.4%, p ¼ 0.0297, OR 3.976). The frequency of the 4a/b genotype in total patients (13.6% vs. 4.9%, p ¼ 0.0302, OR 3.083) as well as patients with idiopathic FHON (18.0% vs. 4.9%, p ¼ 0.0246, OR 4.302) was higher than control subjects. The distribution of Glu298Asp polymorphisms was not significantly different between patients and control subjects. Microstellate polymorphism in intron 4 of eNOS polymorphism was significantly associated with idiopathic FHON in Korean patients. Because 4a allele is associated with lower synthesis of eNOS, these results suggest that carrier state of 4a allele in intron 4 might be a genetic risk factor of FHON and could provide insight into the protective role of nitric oxide in the pathogenesis of FHON. ß

show abstract

T−786→C mutation in the 5′-flanking region of the endothelial nitric oxide synthase gene is associated with myocardial infarction, especially without coronary organic stenosis

Cited by 135 publications

References 14 publications

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

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

Lack of Association between T-786.RAR.C Mutation in the 5'-Flanking Region of the Endothelial Nitric Oxide Synthase Gene and Essential Hypertension.

Endothelial nitric oxide synthase gene polymorphisms in patients with nontraumatic femoral head osteonecrosis

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