云南汉族eNOS/ET-2基因多态性与高血压的相关性研究

目的探讨eNOS、ET-2基因多态性与高血压的相关性。方法采用病例-对照相关性研究策略,选择三代居住在云南的汉族作为研究对象,用基因芯片检测技术,对100例高血压患者及97例健康对照者进行eNOS Glu298Asp(EE、ED、DD)、ET-2A985G(AA、AG、GG)位点基因多态性检测。用OddRatio估计相对危险度。结果云南汉族97例健康人群中:(1)eNOS Glu298Asp位点的EE、ED、DD基因型频率分别是0.845、0.144、0.011;E和D等位基因频率分别是0.918、0.082。(2)ET-2A985G位点的AA、AG、GG基因型频率分别是0.020、0.258、0.722;A和G等位基因频率分别是0.149、0.851。(3)云南汉族100例高血压患者中,ET-2A985G(AA、AG、GG)位点基因型多态性频率与对照组比较,差异无统计学意义。但ET-2A985G位点G等位基因频率(0.925)与对照组(0.851)比较,差异有统计学意义(χ2=5.507、P=0.019),Odd Ratio=2.168(95%CI:1.123～4.184)。(4)eNOS Glu298Asp位点的DD基因型频率(0.01)与对照组(0.01)比较,差异无统计学意义。结论云南汉族中eNOS Glu298Asp突变对高血压的发生意义不大。ET-2A985G等位基因可能与高血压的易感性相关。     

新疆哈萨克族原发性高血压患者发病与内皮型一氧化氮合酶基因27 bpVNTR多态性的关联性

目的：探讨新疆哈萨克族高血压患者内皮型一氧化氮合酶基因第4内含子27bpVNTR多态性与原发性高血压关联性.方法：①选择2001-01/2004-03在新疆医科大学第一附属医院高血压科就诊的原发性高血压患者195例（高血压组）,男90例,女105例.选择健康查体者182例（对照组）,男74例,女108例,平均年龄（48&;#177;10）岁.所选人群均为新疆巴里坤县海子沿乡、萨尔乔克乡、黄土厂乡、巴墙子乡的哈萨克族牧民,且均对实验目的知情同意.②应用聚合酶链反应、限制性内切酶方法检测两组内皮型一氧化氮合酶基因第4内含子27 bpVNTR多态性.③计算两组基因型频率以确认符合Hardy-Weinberg平衡.由基因型频率计算等位基因频率.组间等位基因频率和基因频率比较采用x2检验.临床指标比较采用t检验.不同基因型与临床指标间的关系比较采用单因素方差分析.结果：①内皮型一氧化氮合酶基因第4内含子VNTR的4次和5次重复等位基因的聚合酶链反应产物长度分别为393 bp（40a allele）和420 bp（4b allele）.其重复序列分别为108（4&;#215;27 bp）和135（5&;#215;27 bp）.②对照组与高血压组的内皮型一氧化氮合酶基因27 bpVNTR多态性4b/4b,4b/4a,4a/4a基因型频率分布分别为0.83,0.15,0.02和0.81,0.19,0.00;4b和4a等位基因分布频率分别为0.91,0.09和0.90,0.10,符合HardyWeinberg平衡.③群体相关分析结果表明：两组内皮型一氧化氮合酶基因的4b及4a等位基因分布差异不明显（P＞0.05）;基因型频率之间差异也不明显（P＞0.05）.④内皮型一氧化氮合酶27 bpVNTR不同基因型高血压患者收缩压、舒张压、年龄、体质量指数、空腹血糖及胆固醇都比较接近.高血压组内皮型一氧化氮合酶4b/4a基因型男性患者三酰甘油较4b/4b基因型高（P＜0.01）.结论：①内皮型一氧化氮合酶基因27 bpVNTR多态性可能与新疆哈萨克族人原发性高血压无关联性.②内皮型一氧化氮合酶4a/4b基因型可能与新疆哈萨克族高血压患者三酰甘油水平有关.     

eNOS基因894G/T多态性与心肌梗死的相关性研究

目的研究内皮型一氧化氮合酶(eNOS)基因894G/T多态性与新疆维吾尔族人群心肌梗死的相关性。方法选取新疆维吾尔族心肌梗死患者191例和165例对照者,采用Taqman实时荧光定量聚合酶链反应检测eNOS基因894G/T多态性,分析894G/T多态性与新疆维吾尔族人群心肌梗死的关系。结果维吾尔族心肌梗死组及对照组的等位基因频率及各基因型均未发现差异有统计学意义(P>0.05)。结论 eNOS基因894G/T多态性与新疆维吾尔族人群心肌梗死可能无相关性。     

eNOS基因单核苷酸多态性与2型糖尿病合并高血压相关性的研究

目的探讨吉林地区汉族人内皮型一氧化氮合酶（eNOS）基因第7外显子单核苷酸（G894T）多态性与糖尿病合并高血压的关系。方法对35例2型糖尿病合并高血压的患者,45例单纯2型糖尿病患者,36名健康人进行对照研究。抽提人外周血中白细胞的基因组DNA应用聚合酶链反应限制片段长度多态性（PCR-RFLP）法测定eNOS基因G894T多态性,将PCR产物酶切后进行2%的琼脂糖凝胶电泳,在紫外线灯下观察荧光带并确认每例的基因型。各组间的基因型频率比较应用Hardy-Weinberg遗传平衡定律和χ2检验,等位基因频率比较应用χ2检验。结果 （1）研究对象具有群体代表性。（2）eNOS基因的第7外显子单核苷酸（G894T）多态性位点：DM＋HP组GT基因型频率和等位基因T频率显著高于NC组（χ2=11.188,P〈0.05;χ2=4.807,P〈0.05）,DM组GT基因型频率和等位基因频率与DM＋HP组与NC组无明显差异（χ2=1.923 5.518,P〉0.05;χ2=1.538 1.212,P〉0.05）。结论 eNOS基因第7外显子894G→T多态性与糖尿病合并高血压具有相关性。T等位基因是2型糖尿病合并高血压的危险因素。     

内皮型一氧化氮合酶基因多态性与糖尿病肾病早期干预的关系

目的遗传因素对糖尿病肾病发病(DN)有重要影响,探讨一氧化氮合酶(ecNOS)第4个内含子一个27bp的插入/缺失(a/b)多态性与DN患者体内NO水平的关系。方法应用PCR方法检测了37例健康对照者(NC)与84例2型糖尿病(DM)患者的eNOS基因a/b基因型,并测定上述人群空腹血清一氧化氮代谢物(NOx)水平。DM组患者根据清蛋白排泄率又分为3组,即正常清蛋白尿组(DM1组)、微量清蛋白尿组(DM2组)、大量清蛋白尿组(DM3组)。结果(1)DM各组a等位基因和aa+ab基因型频率明显高于对照组(χ2=3.91to4.28,P<0.05;χ2=17.16to36.05,P<0.01)。DM1组a等位基因及aa+ab基因型频率显著低于DM2及DM3组(χ2=4.17to4.64,P<0.05;χ2=8.23to9.21,P<0.01)。(2)NC组aa+ab基因型空腹血清NOx明显低于bb基因型(t=2.30,P<0.05)。(3)血清NOx在DM1组较NC组有明显的升高(u=2.35,P<0.05),但在DM2,DM3组却较NC组有显著的降低(u=1.68,P>0.05)。结论eNOS基因a/b多态性与DN患者体内NO水平有关,eNOS基因可能通过减少NO的释放而引起DN的发病。因此可以通过对携带a等位基因的DM患者进行早期干预而减缓DN的发生,提高患者生活质量。     

新疆哈萨克族原发性高血压患者发病与内皮型一氧化氮合酶基因27 bpVNTR多态性的关联性

目的探讨新疆哈萨克族高血压患者内皮型一氧化氮合酶基因第4内含子27bpVNTR多态性与原发性高血压关联性.方法①选择2001-01/2004-03在新疆医科大学第一附属医院高血压科就诊的原发性高血压患者195例(高血压组),男90例,女105例.选择健康查体者182例(对照组),男74例,女108例,平均年龄(48±10)岁.所选人群均为新疆巴里坤县海子沿乡、萨尔乔克乡、黄土厂乡、巴墙子乡的哈萨克族牧民,且均对实验目的知情同意.②应用聚合酶链反应、限制性内切酶方法检测两组内皮型一氧化氮合酶基因第4内含子27 bpVNTR多态性.③计算两组基因型频率以确认符合Hardy-Weinberg平衡.由基因型频率计算等位基因频率.组间等位基因频率和基因频率比较采用x2检验.临床指标比较采用t检验.不同基因型与临床指标间的关系比较采用单因素方差分析.结果①内皮型一氧化氮合酶基因第4内含子VNTR的4次和5次重复等位基因的聚合酶链反应产物长度分别为393 bp(40a allele)和420 bp(4b allele).其重复序列分别为108(4×27 bp)和135(5×27 bp).②对照组与高血压组的内皮型一氧化氮合酶基因27 bpVNTR多态性4b/4b,4b/4a,4a/4a基因型频率分布分别为0.83,0.15,0.02和0.81,0.19,0.00;4b和4a等位基因分布频率分别为0.91,0.09和0.90,0.10,符合HardyWeinberg平衡.③群体相关分析结果表明两组内皮型一氧化氮合酶基因的4b及4a等位基因分布差异不明显(P＞0.05);基因型频率之间差异也不明显(P＞0.05).④内皮型一氧化氮合酶27 bpVNTR不同基因型高血压患者收缩压、舒张压、年龄、体质量指数、空腹血糖及胆固醇都比较接近.高血压组内皮型一氧化氮合酶4b/4a基因型男性患者三酰甘油较4b/4b基因型高(P＜0.01).结论①内皮型一氧化氮合酶基因27 bpVNTR多态性可能与新疆哈萨克族人原发性高血压无关联性.②内皮型一氧化氮合酶4a/4b基因型可能与新疆哈萨克族高血压患者三酰甘油水平有关.     

eNOS启动子区T-786C和第7外显子894G→T基因多态性与骨质疏松症相关性研究

目的:探索中国广东地区汉族中老年人群中内皮型一氧化氮合酶(eNOS)启动子区T-786C和第7外显子894G→T基因多态性的分布情况,并分析其在骨质疏松症发病中的相互作用.方法:各选择150例健康体检者和骨质疏松症患者为对象,用分子生物学技术检测eNOS启动子区T-786C和第7外显子894G→T基因多态性,分析两组基因在正常人群及骨质疏松症患者中的频率分布特点,探讨两组基因多态位点与骨质疏松症的关系.结果:骨质疏松症组eNOS基因启动子区第786位C等位基因频率为8.7%,对照组为4.0%,两组比较差异有显著性(P<0.05),C等位基因纯合子携带者发生骨质疏松的风险是TC或者TT纯合子携带者的2.190倍.第7外显子894位T等位基因骨质疏松症组为10.3%,对照组为5.0%,两组比较差异有显著性(P<0.05),T等位基因纯合子携带者发生骨质疏松症的风险是GT或者GG纯合子携带者的2.23倍.提示启动子区T-786C和第7外显子894G→T可能单独作用或和其他位点协同作用对骨质疏松症的发生产生影响,是骨质疏松症遗传危险因素.结论:eNOS上游启动子区域T-786C和第7外显子894G→T与骨质疏松症的发病有关.     

内皮型一氧化氮合酶基因G894T多态性与反复自然流产的关系

无目的:探讨内皮型一氧化氮合酶(endothelial nitricoxide synthase,eNOS)基因第7外显子G894T多态性与反复自然流产发病的关系。方法:应用PCR-RFLP方法,对67例反复自然流产患者(自然流产组)和72例正常妊娠妇女(对照组)的eNOS基因G894T多态性进行检测。结果:自然流产组eNOS基因Glu/Glu、Glu/Asp、Asp/Asp基因型频率分别为73.1%、28.4%、0,Glu/Asp基因型和Asp等位基因频率虽然高于对照组,但差异均无显著性(χ2=2.58、χ2=2.26,均P>0.05)。携带Asp等位基因个体发生自然流产的相对风险无明显增加(OR=1.78,95%CI0.84～3.79)。结论:eNOS基因G894T多态性与自然流产发病无明显关联。     

2型糖尿病血管并发症患者eNOS基因第4内含子多态性的初步研究

目的　对中国人 2型糖尿病患者之eNOS基因多态性进行分子筛查。方法　应用PCR技术扩增 30 0例研究对象eNOS基因第 4内含子 ,研究其多态性。结果　在本组研究的 10 0例对照者和 77例无肾病的糖尿病患者组中 ,eNOS基因的可变串联重复序列表现为eNOS4a、eNOS4b、eNOS4a/4b三种基因型。而 12 3例有肾病的 2型糖尿病患者的可变串联重复序列仅表现为eNOS4b和eNOS4a/4b两种基因型 ,未见到eNOS4a基因型。结论　上述结果初步表明 ,在昆明地区汉族人 2型糖尿病血管并发症患者与eNOS基因第 4内含子多态性不存在关联 (P >0 .0 5 ) ,说明eNOS基因第 4内含子多态性在 2型糖尿病遗传因素中的地位尚难以确定 ,其参与 2型糖尿病微血管病变的作用可能存在种族或地域异质性。     

新疆哈萨克族冠心病患者eNOS基因G894T多态性分析

目的探讨新疆哈萨克族人群内皮型一氧化氮合酶（eNOS）基因多态性与冠心病的相关性。方法应用聚合酶链反应（PCR）一限制性片段长度多态性分析（PCR—RFLP）,检测新疆哈萨克族70例健康个体和87例冠心病患者eNOS基因G894T多态性。结果新疆哈萨克族健康个体及冠心病患者的eNOS基因G894T多态性GG、GT、Tr基因型频率分布分别为51．43％、30．00％、18．57％和24．14％、55．17％、21．69％,G和T等位基因分布频率分别为75．71％、24．29％和56．32％、43．68％,冠心病患者存在G等位基因频率下降,T等位基因频率升高趋势。结论eNOS基因G894T多态性分析,与新疆哈萨克族冠心病有相关性。     

Association of a 27-bp repeat polymorphism in intron 4 of endothelial constitutive nitric oxide synthase gene with hypertension in a Tunisian population

Objectives

Nitric oxide (NO) produced by endothelial nitric oxide synthase (eNOS) mediates endothelium-dependent vasodilatation and antithrombotic action. Controversial results regarding the association of eNOS gene (NOS3) polymorphisms with hypertension have been reported. In the present study, we examined a possible association between the 27-base pair (bp) repeat polymorphism in intron 4 of the NOS3 gene and hypertension in a sample of the Tunisian population.

Design and methods

A total of 295 Tunisian patients with hypertension and 395 healthy controls were included in the study. The NOS3 gene intron 4a4b variable number of tandem repeats polymorphism was analyzed by PCR.

Results

A significant differences in genotype distribution and allele frequency was observed between patients and controls. Patients with hypertension had a frequency of 6.4% for the 4a4a genotype, 32.7% for the 4a4b genotype and 60.9% for the 4b4b genotype. The controls had a frequency of only 2.3% for the 4a4a genotype, 28.4% for the 4a4b genotype and 69.4% for the 4b4b genotype (χ² = 11.81, p = 0.003). The hypertension patient group showed a significant higher frequency of the 4a allele compared to the controls (0.23 vs. 0.16; χ² = 8.61, p = 0.003). The odds ratio of hypertension for 4a vs 4b allele frequencies was statistically significant 1.66 [1.09-2.53] at 95% CI, p = 0.01 in males, whereas it was non-significant in females (1.23 [0.84-1.81], p = 0.26).

Conclusion

The present study showed a significant and independent association between the NOS34a4b gene polymorphism (presence of 4a allele) and hypertension in the Tunisian population.     

内皮型一氧化氮合酶基因转移对大鼠慢性低氧性肺动脉高压的预防作用

目的 探讨内皮型一氧化氮合酶(eNOS)基因转移对大鼠慢性低氧性肺动脉高压(CHPH)的预防作用.方法 雄性Wistar大鼠24只被随机分为常氧(N)组、低氧(H)组、低氧LacZ(H-LacZ)组和低氧eNOS(H-eNOS)组,每组6只.经气道转基因,H-eNOS组注入5×1012 pfu/L AdCMVceNOS 50μl,重复12次,H-LacZ组注入等量AdCMVLacZ,其他两组注入等量生理盐水;3 d后建立大鼠CHPH模型.低氧结束后(2周)检测血动力学指标[体循环平均动脉压(MSAP)、心率(HR)和平均肺动脉压(MPAP)],肺小血管肌化程度(肺小血管中肌型动脉所占比例)和右心室肥厚指数[右心室/(左心室+室间隔)],并行肺组织eNOS蛋白检测及环磷酸鸟苷(cGMP)和一氧化氮(NO)含量测定.结果 H-eNOS组大鼠MPAP、右心室肥厚指数和肺小血管肌化程度明显低于H组与H-LacZ组,明显高于N组(P均<0.01);各组大鼠HR和MSAP比较差异均无统计学意义(P均>0.05);H和H-LacZ组eNOS蛋白含量明显高于N组,低于H-eNOS组(P均<0.01);H组和H-LaeZ组大鼠肺组织NO含量明显低于N组,而H-eNOS组明显高于其他3组(P<0.05或P<0.01);N、H和H-LacZ组大鼠肺组织cGMP含量明显低于H-eNOS组(P均<0.01),且3组间比较差异无统计学意义(P均>0.05).结论 经气道eNOS基因转移,可增强肺组织eNOS活性,增加NO/cGMP含量,减少大鼠CHPH的发生率.     

吸烟者内皮型一氧化氮合酶基因G894T多态性与冠心病的相关性研究

目的探讨吸烟者内皮型一氧化氮合酶基因（eNOS）G894T多态性与冠状动脉粥样硬化性心脏病（冠心病）的发生及其严重程度间的关系。方法将203例吸烟者和182例非吸烟者根据冠状动脉造影结果分为冠心病组（196例）和对照组（189例）,以冠状动脉病变支数判定严重程度。以聚合酶链式反应-限制性片段长度多态性（PCR—RFIP）检测eNOS基因G894T多态性,按吸烟与否分析G894T多态性与冠心病的关系。结果冠心病组GT＋TT基因型分布与T基因突变频数明显高于对照组（x^2=4．26、6．21,P均〈0．05）;吸烟者基因GT＋TT型及T等位基因频率均显著高于非吸烟者（x^2〈5．82、5．77,P均〈0．05）;冠心病组eNOS基因型分布在单支与多支病变组之间差异无统计学意义（x^2=3．36,P〉0．05）,而吸烟的冠心病患者差异有统计学意义（x^2=6.48,P〈0．05）,吸烟的GG＋TT型者更可能发生多支病变,OR=3．42,95％CI（1．440—4.400）。结论eNOS894位点G→T、吸烟与冠心病的发生及其严重程度间的关系密切。     

Smoking status-dependent association of the 27-bp repeat polymorphism in intron 4 of endothelial nitric oxide synthase gene with plasma nitric oxide concentrations

BACKGROUND: Euonymus alatus (EA) has been used for tumor therapy. However, it is still unclear how this herb prevents the diseases in experimental models. Nitric oxide (NO) as a potent macrophage-derived effector molecule against a variety of tumors has received increasing attention. METHODS: Using mouse peritoneal macrophages, we have examined the mechanism by which EA regulates NO production. RESULTS: When EA was used in combination with recombinant interferon-gamma (rIFN-gamma), there was a marked cooperative induction of NO production. However, EA had no effect on NO production by itself. The increased production of NO from rIFN-gamma plus EA-stimulated cells was almost completely inhibited by pre-treatment with pyrrolidine dithiocarbamate (PDTC), an inhibitor of nuclear factor kappa B (NF-kappaB). Furthermore, treatment of peritoneal macrophages with rIFN-gamma plus EA caused a significant increase in tumor necrosis factor-alpha (TNF-alpha) production. PDTC also decreased the effects of EA on TNF-alpha production significantly. CONCLUSIONS: EA increases the production of NO and TNF-alpha by rIFN-gamma-primed macrophages and suggest that NF-kappaB plays a critical role in mediating these effects of EA.     

Gender specific association of endothelial nitric oxide synthase gene (Glu298Asp) polymorphism with essential hypertension in a south Indian population

BACKGROUND: Endothelial derived nitric oxide (NO) plays a major role in blood pressure regulation. The role of missense variant eNOS-Glu298Asp has been demonstrated by many studies with conflicting results. Our objective was to investigate the association of eNOS gene polymorphism with essential hypertension in a south Indian population. METHODS: We carried out a case control study in 438 hypertensive patients and 444 healthy control subjects in a homogenous population. Genotyping was done by PCR-RFLP method. Multiple logistic regression analysis was used to detect the association between genotype and hypertension. RESULTS: The homozygous variant genotype Asp298Asp was significantly associated with hypertension (odds ratio 2.4; 95% CI, 1.23-5.0, p<0.01). Gender specific analysis showed both the heterozygous (odds ratio, 2.0; 95% CI, 1.3-2.9, p<0.01) and homozygous variants (odds ratio, 7.9; 95% CI, 2.0-4.1, p<0.001) were positively associated with hypertension in females. The variant allele Asp was higher in female hypertensives when compared to male hypertensive cases (22% vs. 16%). CONCLUSION: The eNOS gene polymorphism is a candidate gene for hypertension and the association to be gender specific with respect to females in a south Indian Tamilian population.     

内皮一氧化氮合酶基因多态性与糖尿病肾病关系的研究

目的 探讨内皮一氧化氮合酶(eNOS)基因内含子4的多态性与糖尿病肾病的关系,以及其在中国人、马来西亚人和印度人中的分布。方法 选择258例病程在10年以上的2型糖尿病患者作为观察对象,其中中国人150例、马来西亚人71例、印度人37例。从患者全血中提取DNA,然后,进行聚酶链反应(PCR)、克隆及测序。结果 以往认为该基因有2种等位基因(a和b),而本研究发现3种等位基因,并对第3种多态(等位基因c)基因进行了序列分析;统计分析显示,等位基因a、b和c均与糖尿病肾病无显著相关性。结论 eNOS基因内含子4上的多态性有3种等位基因;该基因多态性与糖尿病肾病无显著相关性。     

Exogenous nitric oxide regulates activity and synthesis of vascular endothelial nitric oxide synthase

Background Nitric oxide (NO) – a major signalling molecule of the vascular system – is constitutively produced in endothelial cells (EC) by the endothelial NO synthase (eNOS). Since a reduced NO synthesis is an early sign of endothelial dysfunction and NO delivering drugs are used to substitute the impaired endothelial NO production, we addressed the effect of exogenous NO on eNOS in human umbilical venous endothelial cell cultures. Materials and methods The synthetic NO donor DETA/NO (trade name, but in the following we refer to detNO), that releases NO in a strictly first order reaction with a half life of 20 h, was used in our experiments. Results Short‐term (20–30 min) detNO treatment of EC increases the Ser¹¹⁷⁷ phosphorylation of the constitutively expressed endothelial NOS and the production of endogenous NO generated by eNOS from [³H]arginine. The phosphorylation of eNOS is Akt‐dependent and completely reverted by the phosphatidylinositol‐3 kinase (PI‐3K) inhibitor LY294002. A prolonged continuous exposure of EC to detNO 150 µmol L^?1 over a period of 24–48 h causes a reversible cell cycle arrest at G₁‐phase associated with a larger cell volume and increased cell protein content (hypertrophic phenotype of EC). The eNOS protein and mRNA of the hypertrophic cells and the generation of endogenous NO are reduced but eNOS phosphorylation could still be elevated by stimulation with vascular endothelial growth factor. Conclusions Our data explain clinical studies describing a short‐term but not a long‐term benefit of NO treatment for patients with cardiovascular risk factors. The results could be a rational approach to develop a generation of NO donors accomplishing a retarded release from NO donors that mimic the low continuous pulsatile stress‐induced release of endogenous NO.     

内皮型一氧化氮合酶基因多态性与急性冠脉综合征患者尿酸的关系

目的 探讨中国汉族急性冠脉综合征(ACS)患者尿酸与内皮型一氧化氮合酶(eNOS)基因多态性的关系.方法 采用聚合酶链反应/限制性片段长度多态性方法分析58例ACS患者(ACS组)和43例对照组患者的eNOS基因Glu298→Asp变异体.结果 与对照组比较,ACS组eNOS基因Glu/Glu、Glu/Asp、Asp/Asp基因型频率差异无统计学意义(43.1%、36.2%、20.7%比48.8%、34.9%、16.3%,x2=0.446,P=0.800).与eNOS基因Glu298等位基因携带者比较,ACS的危险性在Asp/Asp携带者中并不增高[相对比值比(OR)1.34,95%可信区间(CI)0.479～3.755,P=0.575].eNOS基因Glu298→Asp变异体与Duke积分无显著性关系[Glu/Glu(48.33±19.61)分,Glu/Asp(38.19±15.12)分,Asp/Asp(46.73±19.90)分,P=0.248];但Glu298→Asp基因型与ACS组患者血清尿酸存在显著的关联[Glu/Glu(298.92±87.27)μmol/L,Glu/Asp(370.80±95.80)μmol/L,Asp/Asp(346.16±93.71)μmol/L,P=0.01 7].结论 在中国汉族人群中,eNOS基因Glu298→Asp多态性与ACS患者不相关,而与ACS组患者血清尿酸存在显著的关联.     

Association of endothelial nitric oxide synthase intron 4a/b gene polymorphisms and hypertension: a systematic review and meta-analysis

ObjectiveWe conducted meta-analysis of relevant case-control trials to determine the association between endothelial nitric oxide synthase (eNOS) intron 4a/b gene polymorphisms and hypertension susceptibility.MethodsWe searched the PubMed, Cochrane, and Embase databases using relevant keywords and reviewed pertinent literature sources. All articles published up to July 2019 were considered for inclusion. Based on the qualified studies, we performed a meta-analysis of the associations between eNOS intron 4a/b polymorphisms and the risk of hypertension.ResultsFourteen studies were included in this meta-analysis, including 3344 cases and 3377 controls. The eNOS intron 4a/b locus was significantly associated with increased susceptibility to hypertension (including essential hypertension) in the overall population, according to dominant, allelic, homozygote, heterozygote, and regressive models, in the mixed population according to the regressive model, and in Caucasians according to the dominant, allelic, heterozygote, and regressive models. The eNOS intron 4a/b locus was also significantly associated with increased susceptibility to essential hypertension in the mixed population according to the heterozygote model.ConclusioneNOS intron 4a/b gene polymorphisms increase susceptibility to hypertension, including essential hypertension.     

冠心病合并抑郁患者内皮型一氧化氮合酶基因G894T多态性分析

目的探讨冠心病合并抑郁与内皮型一氧化氮合酶基因G894T位点多态性的关系。方法冠心病患者217例,分为冠心病合并抑郁组39例和冠心病组178例,选择同期抑郁症患者45例(抑郁症组)与健康体检者85名(对照组)。检测4组内皮型一氧化氮合酶基因G894T位点多态性,并分析4组间差异。结果 4组内皮型一氧化氮合酶基因G894T位点GT杂合基因型和T等位基因频率分布两两比较差异均无统计学意义(P>0.05)。结论冠心病合并抑郁与一氧化氮合酶基因G894T位点多态性无明显相关性。