ANP/NPRA基因多态性与心肌梗死后心力衰竭的相关性研究

目的 探讨心肌梗死后患者心钠素(ANP)T2238C及利尿钠肽A型受体(NPRA)G1023C基因多态性与心肌梗死后严重心力衰竭(CHF)发生的关系.方法 记录研究人群的临床特征,测定血浆ANP、脑钠肽(BNP)水平;并采用聚合酶链反应和限制型片断长度多态性(PCR-RFLP)的方法,分析研究人群的ANP T2238C与NPRA G1023C基因多态性.结果 TT ANP 基因型在严重心力衰竭组中分布显著高于对照组(P＜0.05),经多因素logistic回归分析校正混杂变量后仍显示差异有统计学意义(P＝0.033,OR:1.96,95%CI:1.05~3.27).对照组中,CC NPRA G1023C基因型患者血浆BNP水平显著低于GG基因型患者.结论 ANP T2238C基因多态性显著影响心肌梗死后患者的心力衰竭病程及其预后,NPRA G1023C基因多态性可能通过调控BNP水平作用于心力衰竭的神经体液过程.     

多排螺旋CT冠状动脉钙化积分对冠心病诊断的临床意义

目的 探讨多排螺旋CT(MSCT)冠状动脉钙化积分(CACS)与冠状动脉病变的关系,评价对冠心病无创性诊断的临床意义.方法 临床疑诊为冠心病的49例患者先后分别进行MSCT检测CACS和冠状动脉造影(CAG)检查,根据造影结果分为冠心病组和无冠心病组,并对两组进行对照分析与评价.结果冠心病组37例,无冠心病组12例.冠心病组的CACS值(530.27 ±614.31)明显高于无冠心病组的CACS值(36.59±46.73,P＜0.01).37例冠心病组中3支病变组CACS值(967.18±896.95)高于双支病变组(456.61±376.63)及单支病变组(243.40±239.85)(P＜0.05,P＜0.01).重度狭窄组值CACS(314.06±486.27)高于中度狭窄组(162.74±161.80)、轻度狭窄组(97.35±120.37)及无狭窄组(25.51±55.33)(P＜0.01).轻度狭窄组与中度狭窄组相比无显著性差异(P＞0.05).结论 CACS对预测冠心病有较高的敏感性,与冠脉狭窄支数和狭窄程度呈正相关,MSCT检测CACS可作为临床评价冠心病的有效指标之一.     

ANP和NPR-C基因多态性与高血压病的相关性研究

目的 探讨ANP和NPR-C基因多态性与高血压病的相关性.方法 用病例-对照相关性研究,选择3代居住云南的汉族为研究对象,用基因芯片技术,对100例高血压病患者及97例健康对照者进行ANP T2238C和NPR-C A-55C位点基因多态性分析.结果 (1)云南汉族97例健康人群中ANP T2238C位点的TT、TC基因型频率分别是0.959、0.041,未检出CC基因型;T和C等位基因频率分别是0.979、0.021.(2)NPR-C A-55C的AC、CC基因型频率分别是0.763、0.237,未检出AA基因型;A和C等位基因频率分别是0.381、0.619.(3)ANP T2238C(TT、TC、CC)基因型多态性频率与对照组比较,差异无显著性意义.(4)NPR-C A-55C位点的CC基因型频率(0.540)与对照组(0.237)比较差异有极显著性意义(χ2=18.973,P=0 000),OR=3.777 (95% CI:2.050～6.960).结论 云南汉族NPR-C A-55C CC基因型可能与高血压病易感性相关.     

冠心病患者血管紧张素Ⅱ-1型受体基因多态性分析

目的 :研究冠心病患者血管紧张素Ⅱ 1型受体 (AT1 R)基因A1 1 6 6 /C多态性分布特点及与冠脉病变严重程度的关系。方法 :对 1 30例冠心病患者进行冠状动脉 (冠脉 )造影 ,判定冠脉病变支数和危险记分。采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)技术检测冠心病组和健康对照组 (90例 )AT1 R基因多态性。结果 :检测出AA和AC型 2种基因型 ,冠心病组基因型及等位基因频率与对照组比较差异无统计学意义 (P >0 .0 5 ) ,但AC基因型患者冠脉病变支数和冠脉危险记分显著高于AA基因型患者 (P <0 .0 5 )。结论 :AT1 R基因A1 1 6 6 /C多态性与冠心病的发生无关 ,但与冠脉病变严重程度显著相关     

多层螺旋CT冠状动脉钙化积分在冠心病诊断中的临床应用

目的探讨多层螺旋CT冠状动脉钙化积分在冠心病诊断中的临床应用价值。方法收集2008-01~06间,来我院就诊行CT冠脉成像同时做钙化积分扫描的患者56例。其中,根据既往史和冠状动脉造影确定冠心病30例(冠心病组),健康体检无症状者26例(对照组)。采用西门子16层螺旋CT及CaScoring自动分析软件进行冠脉钙化积分分析。结果冠心病组的平均钙化分数为412.33±22.35,对照组为68.35±18.43,冠心病组的总钙化积分值明显高于对照组(P<0.05),4大分支血管的独立钙化积分在冠心病组和对照组间的差异也有统计学意义(P<0.05)。结论冠状动脉钙化积分对冠心病的筛选和诊断及病变程度判断有重要的意义,可作为临床评价冠心病的有效指标之一。     

血管紧张素转换酶2基因9570A/G多态性与冠状动脉狭窄程度的相关分析

目的:探讨皖北地区汉族人群血管紧张素转换酶2(ACE2)基因9570A/G多态性与冠心病(CHD)患者冠状动脉狭窄程度的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测120例CHD患者ACE2基因多态性,并根据冠脉造影病变支数和Genisini积分进行基因型和等位基因频率分析比较。结果:在男性CHD组中,9570G基因型者冠状动脉病变支数和Genisini积分均多于9570A基因型者(P0.05);在女性CHD组中,不同基因型与冠脉病变支数及Genisini积分无明显不同(P0.05)。结论:ACE2基因9570A/G多态性与皖北地区汉族人群男性CHD冠脉狭窄程度具有一定关系,与女性无明显关系。     

基质金属蛋白酶-9基因多态性与冠心病的关系

目的 研究中国南方汉族人群基质金属蛋白酶-9(MMP-9)基因C1562T多态性与冠心病的关系.方法 对经冠状动脉造影证实的急性冠状动脉综合征患者150例(ACS组)、稳定性心绞痛患者110例(SAP组)和同期冠状动脉造影阴性、排除冠心病诊断的患者70例(对照组)进行研究.采用酶联免疫吸附试验(ELISA)测定血浆MMP-9水平,采用多聚酶链反应-限制性内切酶片断长度多态性(PCR-RFLP)技术分析MMP-9基因中C1562T基因多态性.比较各组的基因型和等位基因频率.分析基因型与MMP-9水平的关系.结果 ACS组血浆MMP-9水平(98.32±31.48)μg/L明显高于SAP组(73.42±18.47)μg/L(P<0.05)和对照组(59.65±16.47)μg/L(P<0.01),而SAP组与对照组比较,差异无统计学意义(P>0.05).ACS组MMP-9基因CT基因型频率(32.0%)、CT TT基因型频率(35.3%)以及T等位基因频率(19.3%)均高于对照组(8.6%、12.8%、8.6%)(P<0.05)和SAP组(11.8%、16.3%、10.5%)(P<0.01),但SAP组与对照组之间各基因型频率和等位基因频率分布差异无统计学意义(P>0.05).C1562T位点CT/TT基因型患者血浆MMP-9水平显著高于CC基因型患者(P<0.01).结论 MMP-9基因C1562T多态性可能与中国南方汉族人群ACS有关,1562T等位基因是动脉粥样硬化斑块不稳定性的易感基因.     

MSCT冠状动脉钙化积分对冠心病的诊断及与冠心病危险因素的相关性研究

目的探讨多层螺旋CT(MSCT)冠状动脉钙化积分(CACS)对冠心病的诊断及与冠心病危险因素的相关性研究。方法随机抽取本院放射科2018年3月到2019年3月接受MSCT检查冠状动脉增强扫描者128例作为研究对象,回顾性分析其临床病例及影像学资料,测定并记录所有患者相关指标水平、冠状动脉钙化情况以及CACS,并分析其相关性,总结患者影像表现。结果 128例进行MSCT检查冠状动脉增强扫描者中存在明确钙化76例,余52例未见明显钙化,其钙化率为59.38%;出现明确钙化的年龄显著较大,GLU、TC和TG水平显著高于未见明显钙化者(P0.05),而两者在性别、HDL、LDL和Ca水平比较上均无显著差异(P0.05);经多因素Logisti C回归分析得,年龄、GLU和TG水平是影响CACS的独立影响因素(P0.05)。结论钙化积分对于预测冠心病和评估其病情具有较好的临床价值,而MSCT对钙化积分的检测更为准确和灵敏,对于冠心病早期的诊断、预后评估等都极为重要。     

亚甲基四氢叶酸还原酶基因C677T多态性与冠心病患者冠状动脉病变及叶酸水平相关性研究

目的:探究冠心病患者冠状动脉病变及叶酸水平与其亚甲基四氢叶酸还原酶基因(MTHFR)C677T多态性的相关性。方法:将98例冠心病患者以及同期接受健康检查的35例正常人作为研究对象,将其分为冠心病组与正常组,对两组受检者MTHFR C677T多态性和叶酸水平进行检验并分析患者的冠状动脉病变程度差异,对其之间的关系进行详细分析。结果:两组受检者MTHFR C677T基因型及等位基因频率分布无统计学差异(P>0.05),冠心病组患者的同型半胱氨酸(Hcy)水平显著高于正常组(P<0.05)。从受检患者MTHFR C677T基因型分布情况来看,随着患者冠状动脉病变情况的程度加深患者TT及TC基因型频率分布和患者Hcy水平逐渐增加,CC基因型频率分布逐渐下降,TC、CC基因型和Hcy水平组间对比差异无统计学意义(P<0.05),TT基因型频率分布组间对比差异无统计学意义(P>0.05)。从MTHFR C677T基因型与叶酸水平的关系来看,TT、TC基因个体的叶酸水平均较CC基因个体高(P<0.05)。结论:MTHFR C677T基因多态性与叶酸水平以及冠心病患者发病风险之间存在明显的关系,患者血清Hcy水平上升也就是叶酸浓度降低以及MTHFR C677T基因型多态性尤其是携带T基因型的患者具有较高的冠心病患病风险,同时MTHFR C677T基因型多态性还与冠心病患者的病情进展存在一定联系,能够对冠心病患者的病情进展状况进行判断,增加了临床针对性治疗和患者疗效评价的有效参考指标。     

青年急性冠脉综合征心血管危险因素与冠状动脉病变特点研究

目的:探讨青年急性冠脉综合征患者的心血管危险因素、冠状动脉病变特点与老年急性冠脉综合征患者的不同。方法:对54例青年(≤45岁)急性冠脉综合征患者和96例老年(≥60岁)急性冠脉综合征患者的临床资料(包括冠状动脉造影结果)进行回顾性分析和比较。结果:二组均为男性患者多(P<0.01),青年组吸烟、大量饮酒、心血管病家族史明显多于老年组(P<0.05),青年组与老年组发病情况、空腹血糖、TG、HDL-C二组间无显著性差异(P>0.05);TC、LDL-C二组间有显著性差异(P<0.05)。青年组多冠状动脉单支病变(P<0.01),老年组多冠状动脉多支病变(P<0.01),家族史、吸烟史、TC、LDL-C进入回归方程。结论:吸烟、高血脂、心血管病家族史是青年急性冠脉综合征患者突出的危险因素,不良的生活饮食习惯和遗传因素促使冠心病提早发生。     

ANP T2238C, C-664G Gene Polymorphism and Coronary Heart Diseasein Chinese Population

The association between atrial natriuretic peptide (ANP) polymorphism and coronary heart disease (CHD) was studied in Chinese population. The genotypes of ANP T2238C and ANP C-664G were detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) methods in 158 consecutive CHD patients and 165 controls. It was found that the distribution of A2A2 genotype in CHD group was significantly higher than that in control group (P<0.05). Stepwise Logistic regression analysis revealed that male, smoking, history of hypertension, history of diabetes, family history of hypertension, high level of serum cholesterol, and ANP T2238C polymorphism were the possible risk factors in patients with CHD (P<0.05). However, there was no significant difference between the patients with CHD and the control group in the distribution of ANP C-664G polymorphism (P>0.05). The results suggest that A2A2 T2238C genotype could be one of the risk factors for CHD (P<0.05, OR: 1.80, 95 % CI: 1.03-3.15).     

心房利尿钠肽C-664G基因多态性与冠心病危险因素的分析

目的:探讨心房利尿钠肽(ANP)C-664G基因多态性与冠心病(CHD)危险因素的相关关系。方法:采用聚合酶链反应和限制型片断长度多态性(PCR-RFLP)的方法,分析158例CHD患者和165例非冠心病对照人群的C-664G(RsaI)基因多态性分布。结果:总研究人群中ANPC-664G的G和C两种等位基因分布频率为2.0%和98.0%。ANPC-664G基因型分布在两组人群中未发现显著性差异(P>0.05)。Logistic分析结果提示,男性、吸烟、高血压病史、糖尿病史、高血压家族史、血浆高胆固醇为冠心病的独立危险因素,但ANPC-664G型未能进入回归方程。且这种基因多态性分布与研究人群中的性别、体重指数、血脂、高血压病家族史、高血压病史、糖尿病家族史、糖尿病史、脑卒中家族史,脑卒中病史以及冠心病家族史之间并无显著关联(P>0.05)。结论:研究结果提示,ANPC-664G基因型与冠心病史并无显著相关性,可能不是冠心病的基因易感因素。     

Association of Polymorphisms in Angiotensin-converting Enzyme and Type 1 Angiotensin Ⅱ Receptor Genes with Coronary Heart Disease and the Severity of Coronary Artery Stenosis

To explore the relation of angiotensin-converting enzyme （ACE） and angiotensin Ⅱ type 1 receptor （AT1R） gene polymorphism with coronary heart disease （CHD） and the severity of coronary artery stenosis, 130 CHD patients who underwent coronary angiography were examined for the number of affected coronary vessels （≥75% stenosis） and coronary Jeopardy score. The insertion/deletion of ACE gene polymorphism and AT1R gene polymorphism （an A→C transversion at nucleotide position 1166） were detected by using polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP） in CHD patients and 90 healthy serving as controls. The resuits showed that DD genotype and of ACE were more frequent in CHD patients than that in control group （38.5% vs 14.4%, P〈0.001）. The frequency of the ATIR A/C genotypes did not differ between the patients and the controls （10% vs 13.1%, P〉0.05）. The relative risk associated with the ACE-DD was increased by AT1R-AC genotype. Neither the number of affected coronary vessels nor the coronary score differed among the ACE I/D genotypes （P〉0.05）. But the number of affected coronary vessels and the coronary score were significantly greater in the patients with the AT1R-AC genotype than in those with the AA genotype （P〈0.05）. In conclusion, DD genotype may be risk factor for CHD and MI in Chinese people, and is not responsible for the development of the coronary artery stenosis. The AT1R-C allele may increase the relative risk associated with the ACE-DD genotype, and may be involved in the development of the stenosis of coronary artery.     

Association of polymorphisms in angiotensin-converting enzyme and type 1 angiotensin II receptor genes with coronary heart disease and the severity of coronary artery stenosis

Summary To explore the relation of angiotensin-converting enzyme (ACE) and angiotensin II type 1 receptor (AT1R) gene polymorphism with coronary heart disease (CHD) and the severity of coronary artery stenosis, 130 CHD patients who underwent coronary angiography were examined for the number of affected coronary vessels (⩾75% stenosis) and coronary Jeopardy score. The insertion/deletion of ACE gene polymorphism and AT1R gene polymorphism (an A→C transversion at nucleotide position 1166) were detected by using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) in CHD patients and 90 healthy serving as controls. The results showed that DD genotype and of ACE were more frequent in CHD patients than that in control group (38.5% vs 14.4%, P<0.001). The frequency of the AT1R A/C genotypes did not differ between the patients and the controls (10% vs 13.1%, P>0.05). The relative risk associated with the ACE-DD was increased by AT1R-AC genotype. Neither the number of affected coronary vessels nor the coronary score differed among the ACE I/D genotypes (P>0.05). But the number of affected coronary vessels and the coronary score were significantly greater in the patients with the AT1R-AC genotype than in those with the AA genotype (P<0.05). In conclusion, DD genotype may be risk factor for CHD and MI in Chinese people, and is not responsible for the development of the coronary artery stenosis. The AT1R-C allele may increase the relative risk associated with the ACE-DD genotype, and may be involved in the development of the stenosis of coronary artery.     

青海地区冠心病患者载脂蛋白E基因多态性与血脂的研究

目的:通过研究青海地区冠心病患者apoE基因多态性与血脂的关系,探讨冠心病的遗传易感因素。方法:选取60例冠心病患者,50例健康人。通过聚合酶链反应一限制性片段长度多态性测定apoE基因多态性。结果:CAD组携带E3/4基因型较对照组增高,对照组携带E3/3基因型较CAD组增高(P<0.05)。CAD组中TG、LDL-C血浓度较对照组增高。E3/4和E3/3基因型较E2/2基因型血中TG、LDL-C增高更明显(P<0.05)。结论:ApoE3/4基因型可能是冠心病的遗传易感因子,不同的基因型可能通过影响血脂而与冠心病发病有关。     

过氧化物酶体增殖物激活受体δ+294T/C基因多态性与冠心病的关系

目的探讨过氧化物酶体增殖物激活受体δ（peroxisome proliferation—activated receptor—delta,PPARδ）＋294T／C基因多态性与冠心病的关系。方法运用聚合酶链式反应及限制酶片段长度多态性技术分析无血缘关系汉族人群[包括82例正常对照者（NC）,120例冠心病（CHD）患者1的PPARS＋294T／C基因多态性,分析基因型频率、等位基因频率,并对不同基因型患者冠心病的危险性进行评价。结果两组间基因型分布差异有统计学意义（P〈0．05）;CHD组TC＋CC基因型频率及C等位基因频率均明显高于Nc组（P〈0．05）;C等位基因携带（TC＋CC）者冠心病危险性高于TT基因型（C等位基因携带者OR：3．16,95％CI：1．39～7．14）。结论PPARg＋294T／C基因多态性与冠心病之间有重要的相关性,C等位基因携带可能是冠心病的的危险因素。     

IL-1β-511基因多态性与冠心病相关性研究

目的探讨IL-1β-511基因多态性与冠心病发病危险性的关系。方法应用聚合酶链反应-限制性内切酶片段长度多态性法检测160例冠心病患者(冠心病组)IL-1β-511基因多态性,选择同期健康体检合格人群160例作为对照组。结果冠心病组TC、TT和CC基因频率分别为61.25%、23.75%和15.00%,对照组分别为57.50%、14.38%和28.13%,差异有统计学意义(P<0.01);冠心病组T等位基因频率(54.38%)高于对照组(43.13%),差异有统计学意义(P<0.01);TT基因型为冠心病发生的危险基因型,OR为2.51。携带T等位基因的冠心病患者TC(6.10±0.87)mmol/L和LDL-C(4.01 mmol/L)水平高于携带C等位基因患者。结论 IL-1β-511基因多态性与冠心病发病明显相关,TT基因型可能为冠心病发生的危险基因型。     

血管紧张素转换酶基因多态性与冠心病及其冠状动脉粥样硬化病变程度的关系

目的：研究汉族人血管紧张素转换酶（ACE）基因多态性与冠状动脉造影确诊的冠心病及其冠状动脉粥样硬化病变程度的关系。方法：应用聚合酶链反应技术和遗传学方法，测定169例经冠状动脉造影确诊的冠心病患者和168例汉族正常人的ACE基因插入／缺失（I／D）多态性。比较ACEI／D多态性与冠心病及其冠状动脉病变支数和冠状动脉积分的关系。砖杲：①汉族正常人和冠心病患者的ACE基因型频率观察数与期望数差异均无显著性（P均〉0．05）；②冠心病患者ACEDD基因型频率显著高于正常人（0．296vs0．161，P〈0．01）；③冠心病患者冠状动脉单支、双支、多支病变组比较，ACE基因型与等位基因频率差异均无显著性（P均〉0．05）；④冠心病患者的冠状动脉积分在ACE基因型间差异无显著性（P〉0．05）。砖论：ACE基因缺失多态性与冠心病有关，与冠状动脉粥样硬化病变程度无关。     

Association of Polymorphisms in Angiotensin-converting Enzyme and Type 1 Angiotensin Ⅱ Receptor Genes with Coronary Heart Disease and the Severity of Coronary Artery Stenosis

To explore the relation of angiotensin-converting enzyme (ACE) and angiotensin Ⅱ type 1 receptor (AT1R) gene polymorphism with coronary heart disease (CHD) and the severity of coronary artery stenosis, 130 CHD patients who underwent coronary angiography were examined for the number of affected coronary vessels (≥75% stenosis) and coronary Jeopardy score. The inser- tion/deletion of ACE gone polymorphism and ATIR gene polymorphism (an A→C transversion at nucleotide position 1166) were detected by using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) in CHD patients and 90 healthy serving as controls. The re- sults showed that DD genotype and of ACE were more frequent in CHD patients than that in control group (38.5% vs 14.4%, P<0.001). The frequency of the AT1R A/C genotypes did not differ between the patients and the controls (10% vs 13.1%, P0.05). The relative risk associated with the ACE-DD was increased by ATIR-AC genotype. Neither the number of affected coronary vessels nor the coro-nary score differed among the ACE I/D genotypes (P0.05). But the number of affected coronary vessels and the coronary score were significantly greater in the patients with the AT1R-AC genotype than in those with the AA genotype (P<0.05). In conclusion, DD genotype may he risk factor for CHD and MI in Chinese people, and is not responsible for the development of the coronary artery stenosis. The AT1R-C allele may increase the relative risk associated with the ACE-DD genotype, and may be involved in the development of the stenosis of coronary artery.