eNOS gene

eNOS 基因
  • 文章类型: Journal Article
    背景:一氧化氮(NO)对心血管系统具有多种作用。NO产生的损害在大脑和冠状动脉痉挛中起关键作用。我们旨在探讨心脏导管插入术中桡动脉痉挛(RAS)的预测因素以及eNOS基因多态性(Glu298Asp)与RAS的相关性。
    结果:200例患者经桡动脉途径行选择性冠状动脉造影。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)将受试者基因分型为eNOS基因上的Glu298Asp多态性(rs1799983)。我们的结果表明,具有TT基因型和T等位基因的受试者发生桡动脉痉挛的可能性更高(OR分别为12.5、4.6,P<0.001)。TT基因型eNOSGlu298Asp多态性,穿刺次数,径向护套的尺寸,径向弯曲,右径向通路是径向痉挛的独立预测因子。
    结论:在埃及人的心脏导管插入术中,eNOS(Glu298Asp)基因多态性与RAS相关。TT基因型eNOSGlu298Asp多态性,穿刺次数,径向护套的尺寸,右径向入口,和弯曲是心脏导管插入术中RAS的独立预测因子。
    BACKGROUND: Nitric oxide (NO) exerts diverse effects on the cardiovascular system. Impairment of NO production plays a key role in cerebral and coronary artery spasm. We aimed to explore the predicting factors of radial artery spasm (RAS) and the association of eNOS gene polymorphism (Glu298Asp) with RAS during cardiac catheterization.
    RESULTS: 200 patients underwent elective coronary angiography through a trans-radial approach. The subjects were genotyped to the Glu298Asp polymorphism (rs1799983) on the eNOS gene by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Our results showed that the subjects with the TT genotype and T allele were significantly more likely to develop radial artery spasms (OR = 12.5, 4.6, P < 0.001 respectively). TT genotype of eNOS Glu298Asp polymorphism, number of punctures, size of the radial sheath, radial tortuosity, and right radial access are independent predictors of radial spasm.
    CONCLUSIONS: The eNOS (Glu298Asp) gene polymorphism is associated with RAS during cardiac catheterization in Egyptians. TT genotype of eNOS Glu298Asp polymorphism, number of punctures, size of the radial sheath, right radial access, and tortuosity are independent predictors of RAS during cardiac catheterization.
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    文章类型: Journal Article
    内皮型一氧化氮合酶(eNOS)在调节和维持健康的心血管系统中起着至关重要的作用。eNOS的重要性可以从eNOS基因的遗传多态性来强调,eNOS二聚化的解偶联,及其众多的信号法规。eNOS对心肌细胞的活性,脉管系统,讨论了中枢神经系统。eNOS对交感神经自主神经系统(SANS)和副交感神经自主神经系统(PANS)的影响,两者都对心血管系统产生了深远的影响,将详细阐述。将讨论eNOS蛋白与心血管自主神经反射之间的关系,例如压力反射和运动压力反射。例如,内源性一氧化氮(NO)的作用被证明是由eNOS蛋白介导的,并且eNOS衍生的内皮NO通过调节压力反射机制在调节血压波动中最有效。这里强调eNOS对CVS的保护作用,因为eNOS酶的功能障碍与高血压等多种心血管疾病的发病机理密切相关。动脉硬化,心肌梗塞,和中风。总的来说,我们目前对eNOS蛋白的理解集中在其在调制中的作用,regulation,讨论了在正常生理状态和心血管疾病中对心血管系统的控制。
    Endothelial nitric oxide synthase (eNOS) plays a critical role in regulating and maintaining a healthy cardiovascular system. The importance of eNOS can be emphasized from the genetic polymorphisms of the eNOS gene, uncoupling of eNOS dimerization, and its numerous signaling regulations. The activity of eNOS on the cardiac myocytes, vasculature, and the central nervous system are discussed. The effects of eNOS on the sympathetic autonomic nervous system (SANS) and the parasympathetic autonomic nervous system (PANS), both of which profoundly influence the cardiovascular system, will be elaborated. The relationship between the eNOS protein with cardiovascular autonomic reflexes such as the baroreflex and the Exercise Pressor Reflex will be discussed. For example, the effects of endogenous nitric oxide (NO) are shown to be mediated by the eNOS protein and that eNOS-derived endothelial NO is most effective in regulating blood pressure oscillations via modulating the baroreflex mechanisms. The protective action of eNOS on the CVS is emphasized here because dysfunction of the eNOS enzyme is intricately correlated with the pathogenesis of several cardiovascular diseases such as hypertension, arteriosclerosis, myocardial infarction, and stroke. Overall, our current understanding of the eNOS protein with a focus on its role in the modulation, regulation, and control of the cardiovascular system in a normal physiological state and in cardiovascular diseases are discussed.
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  • 文章类型: Journal Article
    OBJECTIVE: To investigate whether endothelial nitric oxide synthase (eNOS) T786C, 4VNTR and G894 T gene polymorphisms could mediate in andrological treatment response in Spaniards.
    UNASSIGNED: The study participants were Spaniard males with erectile dysfunction (ED) and chronic pain (n = 105) recruited at the Pain Unit. eNOS polymorphisms were genotyped by quantitative polymerase chain reaction using Taqman specific probes. Statistical analyses were carried out using R-3.2.4 software.
    RESULTS: A total of 69 patients required andrological treatment and 76% of them improved ED upon iPED5 (20%), testosterone (35%) or iPDE5/testosterone treatment (45%); being significantly better in T786C-CC patients. Multivariate regression analysis indicated that age, opioid daily dose and carriage of T786C-C allele influenced the risk and ED severity in Spaniard chronic pain patients.
    CONCLUSIONS: T786C polymorphism at eNOS locus appeared to be a major contributor in the variable erectile function iPDE5/testosterone response in Spaniards.
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  • 文章类型: Journal Article
    目的:探讨内皮型一氧化氮合酶(eNOS)4VNTR和G894T基因多态性可介导西班牙人的雄激素治疗反应。
    研究参与者是在疼痛科招募的患有勃起功能障碍(ED)和慢性疼痛(n=105)的西班牙人男性。使用Taqman特异性探针通过定量聚合酶链反应对eNOS多态性进行基因分型。采用R-3.2.4软件进行统计学分析。
    结果:共有69例患者需要进行雄激素治疗,其中76%的患者在iPED5(20%)后ED得到改善,睾酮(35%)或iPDE5/睾酮治疗(45%);在T786C-CC患者中明显更好。多元回归分析表明,年龄,阿片类药物每日剂量和T786C-C等位基因携带影响西班牙人慢性疼痛患者的风险和ED严重程度。
    结论:eNOS位点的T786C多态性似乎是西班牙人勃起功能iPDE5/睾酮反应的主要因素。
    OBJECTIVE: To investigate whether endothelial nitric oxide synthase (eNOS) T786C, 4VNTR and G894 T gene polymorphisms could mediate in andrological treatment response in Spaniards.
    UNASSIGNED: The study participants were Spaniard males with erectile dysfunction (ED) and chronic pain (n = 105) recruited at the Pain Unit. eNOS polymorphisms were genotyped by quantitative polymerase chain reaction using Taqman specific probes. Statistical analyses were carried out using R-3.2.4 software.
    RESULTS: A total of 69 patients required andrological treatment and 76% of them improved ED upon iPED5 (20%), testosterone (35%) or iPDE5/testosterone treatment (45%); being significantly better in T786C-CC patients. Multivariate regression analysis indicated that age, opioid daily dose and carriage of T786C-C allele influenced the risk and ED severity in Spaniard chronic pain patients.
    CONCLUSIONS: T786C polymorphism at eNOS locus appeared to be a major contributor in the variable erectile function iPDE5/testosterone response in Spaniards.
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  • 文章类型: Journal Article
    背景:已经进行了一些病例对照研究,以研究内皮型一氧化氮合酶(eNOS)基因894G>T多态性与先兆子痫易感性之间的关系。然而,结果不一致且无定论.因此,我们进行了这项荟萃分析来调查这种关联.方法:截至2019年9月30日发表的所有研究都是通过搜索PubMed等电子数据库来确定的,EMBASE,CNKI,和万方。结果:共选择35项病例对照研究,其中4,254例和5,801例对照。eNOS894G>T与先兆子痫风险之间存在显著关联。当按种族分层时,在高加索人和混合人群中发现先兆子痫的风险增加,但不是亚洲人或非洲人。结论:根据我们的荟萃分析,eNOS894G>T多态性与先兆子痫的风险增加有关,尤其是在高加索和混合人群中。
    BACKGROUND: Several case-control studies have been performed to investigate the association between 894 G > T polymorphism in endothelial nitric oxide synthase (eNOS) gene and susceptibility to preeclampsia. However, the results were inconsistent and inconclusive. Therefore, we conducted this meta-analysis to investigate the association. Methods: All studies published up to September 30, 2019 were identified by searching electronic databases such as PubMed, EMBASE, CNKI, and WANFANG. Results: A total of 35 case- control studies with 4,254 cases and 5,801 controls were selected. There was a significant association between the eNOS 894 G > T and preeclampsia risk. When stratified by ethnicity, an increased risk of preeclampsia was found in Caucasian and Mixed populations, but not in Asians or Africans. Conclusion: Based on our meta-analysis, the eNOS 894 G > T polymorphism was associated with an increased risk of preeclampsia, especially among Caucasian and Mixed populations.
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  • 文章类型: Journal Article
    Effects of trimetazidine combined with berberine on endothelial function of patients with coronary heart disease combined with primary hypertension (CCP) were investigated. A total of 68 patients with CCP were selected from July 2014 to August 2016 to serve as observation group. At the same time, 68 healthy people were also selected to serve as control group (physiological saline). Expression of endothelial nitric oxide synthase (eNOS) mRNA in the blood samples of the observation and control groups before and after treatment was determined by RT-PCR. Levels of NO in the plasma of the observation and control groups before and after treatment were measured by nitric acid reductase method. Brachial artery flow-mediated vasodilation (FMD) of observation and control groups was detected by brachial artery ultrasonography before and after treatment. Before treatment, expression level of eNOS mRNA in blood of the observation group was significantly lower than that of the control group (P<0.05). After treatment, expression level of eNOS mRNA was significantly increased (P<0.05). Plasma NO content 41.06±3.63 mol/l in blood of the observation group was significantly lower than that of the control group 53.28±3.09 mol/l (P<0.05). After treatment with trimetazidine and berberine, level of NO 50.75±2.75 mol/l was significantly increased compared with the level before treatment (P<0.05). FMD value (5.03±0.95) was significantly lower in observation group than that in control group (16.04±1.63) (P<0.05). After treatment with trimetazidine and berberine, FMD value (14.02±2.39) was significantly increased compared with the level before treatment (P<0.05). The results suggested that the combination of trimetazidine and berberine can increase the content of NO in blood and promote endothelium-dependent dilation function of brachial arteries, which is helpful in the treatment of CCP.
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  • 文章类型: Journal Article
    这项研究旨在调查土耳其人群中内皮型一氧化氮合酶(eNOS)基因的功能变体在类风湿关节炎(RA)的发病机制和治疗中是否起任何作用。因为,eNOS变体负责改变血浆中的NO水平,通过减少/增加内皮NO合成。在研究中,在从65例RA患者外周血细胞中提取的DNA中检查了两种eNOS基因变体(G894T和内含子4VNTRA/B)。对于控制,研究了70名健康人的血液样本。通过PCR-RFLP和/或PCR技术进行分子变体的基因分型。比较获得的数据本身和对治疗的反应。我们发现G894T变异体的“TT基因型频率”与RA显著相关,总风险为8.3倍(p0.029)。在内含子4VNTRA/B变体与RA之间未鉴定出关联。6个月时,平均视觉模拟量表(VAS),健康评估问卷(HAQ),28个关节的疾病活动评分(DAS28)改善在组间并不显著。抗TNF治疗的DAS改善明显优于疾病缓解抗风湿药(DMARD)治疗的亚组。我们首次报道eNOS“TT”基因型的变异可能导致土耳其人群RA风险增加。这些结果表明,eNOS基因的功能变体可能对RA患者和对抗TNF治疗的反应产生影响。此外,结果表明,在土耳其RA患者中,eNOS变异可能与宿主对治疗的敏感性和/或应答相关.
    This study aimed to investigate whether functional variants of endothelial nitric oxide synthase (eNOS) gene play any role in rheumatoid arthritis (RA) ethiopathogenesis and treatment in the Turkish population. Because, eNOS variants are responsible for alteration of the NO level in plasma, by reducing/increasing the endothelial NO synthesis. In the study, two eNOS gene variants (G894T and intron 4 VNTR A/B) were examined at extracted DNAs from 65 peripheral blood cell of RA patients. For the control, blood samples obtained from 70 healthy persons were studied. Genotyping of molecular variants was performed by PCR-RFLP and/or PCR technique. The data obtained was compared in itself and response to therapy. We found that \"TT genotypic frequency\" for the G894T variant was significantly associated with RA with an overall risk of 8.3-fold (p 0.029). No association was identified between intron 4 VNTR A/B variant and RA. At the 6 months, the mean visual analog scale (VAS), health assessment questionnaire (HAQ), and disease activity score for 28 joints (DAS 28) improvement was not significant among groups. Improvement in DAS was significantly better in anti-TNF treatment than disease-modifying antirheumatic drugs (DMARD) treatment treated subgroup. We report for the first time that variants in the eNOS \"TT\" genotype might be contributed to the increased risk of RA in the Turkish population. These results imply that functional variants of eNOS gene might have an effect on RA patients and response to anti-TNF treatment. In addition, the results suggest that eNOS variants might be associated and affect host susceptibility and/or response to treatment in Turkish RA patients.
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  • 文章类型: Journal Article
    目的:先前的研究已经证明了eNOS多态性与心房颤动(AF)之间的关联。我们试图确定eNOS多态性是否与射频导管消融(RFCA)后的房颤复发有关。
    方法:共500名连续患者(56±11年,77%男性)阵发性(68%)或持续性(32%)房颤,接受RFCA和500岁,对性别匹配的对照进行eNOS3单核苷酸多态性基因分型(rs1799983).根据2012年ACC/AHA/ESC指南监测房颤复发。
    结果:病例组和对照组rs1799983变异等位基因(T)的频率没有显着差异(OR1.05,95%CI0.75-1.46,p=0.798)。具有rs1799983变异的AF患者比没有该基因遗传变异的患者更有可能患有冠状动脉疾病或中风(31.0%vs.17.3%,p=0.004)。在平均17个月的随访期间,房颤早期复发(ERAF;3个月内)和临床复发(CR)分别为31.8%和24.8%,分别。rs1799983变异与较高的ERAF风险相关(OR1.71,95%CI1.06-2.79,p=0.028),但不是CR。变异组ERAF发生时间(11±16天)高于无变异等位基因组(20±25天,p=0.016)。多因素logistic回归分析显示rs1799983变异体(OR1.75,95%CI1.07-2.86,p=0.026)和持续性房颤是房颤消融术后ERAF的独立预测因子。
    结论:eNOS3基因的rs1799983变体与ERAF相关,但不是CR,在RFCA之后。eNOS3基因变异可能对消融后管理的分层具有潜在作用。
    OBJECTIVE: Previous studies have demonstrated an association between eNOS polymorphisms and atrial fibrillation (AF). We sought to determine whether eNOS polymorphisms are associated with AF recurrence after a radiofrequency catheter ablation (RFCA).
    METHODS: A total of 500 consecutive patients (56±11 years, 77% male) with paroxysmal (68%) or persistent (32%) AF who underwent RFCA and 500 age, gender-matched controls were genotyped for the eNOS3 single nucleotide polymorphism (rs1799983). AF recurrence was monitored according to 2012 ACC/AHA/ESC guidelines.
    RESULTS: The frequencies of the rs1799983 variant alleles (T) in the case and control group were not significantly different (OR 1.05, 95% CI 0.75-1.46, p=0.798). AF patients with rs1799983 variants were more likely to have coronary artery disease or stroke than those without genetic variant at this gene (31.0% vs. 17.3%, p=0.004). During mean 17 months follow-up, early recurrence of AF (ERAF; within 3 months) and clinical recurrence (CR) of AF were 31.8% and 24.8%, respectively. The rs1799983 variant was associated with higher risk of ERAF (OR 1.71, 95% CI 1.06-2.79, p=0.028), but not with CR. ERAF occurred earlier (11±16 days) in variant group than those without variant allele (20±25 days, p=0.016). A multiple logistic regression analysis showed that presence of the rs1799983 variant (OR 1.75, 95% CI 1.07-2.86, p=0.026) and persistent AF were independent predictors for ERAF after AF ablation.
    CONCLUSIONS: The rs1799983 variant of the eNOS3 gene was associated with ERAF, but not with CR, after RFCA. eNOS3 gene variants may have a potential role for stratification of post-ablation management.
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  • 文章类型: Journal Article
    BACKGROUND: Pathophysiological processes in preeclampsia (PE) are influenced by genetic factors, nitric oxide synthases seem to play important roles, although their expression in and their role is still unclear. To better characterize the host genetic factors determining the susceptibility to PE, we evaluated the influence of polymorphisms (Glu298Asp) in the endothelial nitric oxide synthase (eNOS) gene on the risk of developing PE by checking the expression level.
    METHODS: We conducted a hospital-based case-control study including 300 women with preeclampsia and 200 healthy pregnant women. Their blood samples were analyzed for levels of nitric oxide, eNOS gene polymorphism and expression. eNOS mRNA levels were determined using RT-PCR and expressed as arbitrary units after correction with control β-Actin gene mRNA levels.
    RESULTS: The mRNA expression of eNOS gene was found to be significantly lower in blood (P<0.05) from women with PE compared to that from normal pregnancies. The total nitric oxide levels (P<0.001) were decreased in study Group as compared to healthy pregnant patients. The intergenotypic variation of nitric oxide levels in preeclamptic women was found to be significant (P<0.001).
    CONCLUSIONS: These results indicate the relationship between reduced nitric oxide levels and eNOS gene polymorphism leading to its altered expression in preeclamptic women.
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  • 文章类型: Journal Article
    Previous studies have shown that endothelial nitric oxide synthase (eNOS) gene may be involved in abnormal semen parameters. However, the relationship between eNOS G894T polymorphism and semen parameters remains controversial. The purpose of this study was to investigate the association of eNOS G894T polymorphism and semen parameters. The genotype frequency of eNOS G894T was determined in 270 idiopathic asthenozoospermia patients and 248 ethnically matched healthy volunteers using iPLEX genotyping assays on a MassARRAY(®) (Sequenom, San Diego, CA, USA) platform. The statistical analysis performed with Fisher\'s exact test showed no significant difference in frequencies of genotypes between both groups. The logistic regression showed that genotypes GT, TT and allele T were nonassociated with increased risk of asthenozoospermia in the patient group with ≤5% or >5% sperm with normal forms. The dependence on genotypes of semen parameters was further investigated in both patients and control group. There was no significant difference as compared to control group (P > 0.05). Our study indicated that eNOS gene G894T polymorphism may not have an adverse effect on semen parameters in a Chinese Han population.
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