基因多态性与原发性高血压的相关性

高血压是一种遗传因素和环境因素相互作用所致的疾病,但高血压的病因尚不明确。已有的研究结果表明,高血压患者或潜在患者常有一种以上与血压调节相关的基因异常。目前,已有多个与高血压相关的基因位点被深入广泛研究。本文旨在就基因多态性与高血压相关性的研究进展进行综述。     

eNOS基因多态性与原发性高血压相关性的研究进展

EH是一类由多基因和环境因素共同影响导致的复杂遗传性疾病,遗传因素对血压变化的影响占30%-50%.自1992年JeuneMaitre等首次报道血管紧张素原(angiotensinogen,AGT)基因多态性与EH相关,开创了EH基因多态性关联研究的先列.在众多的EH候选基因中,围绕肾素-血管紧张素-醛固酮系统、交感神经系统、下丘脑-垂体轴、内皮素、利钠肽、激肽释放酶-激肽系统等至少150种EH候选基因进行了广泛研究[1].在众多候选基因中内皮型一氧化氮合酶(endothelial nitric oxide synthase,eNOS)基因由于对血压调节的重要作用而倍受重视.现就eNOS基因多态性与EH的相关性做一综述.     

G蛋白β亚单位C825T基因多态性与原发性高血压的相关性研究

分析大规模日本人群的G蛋白β亚单位基因（GNB3,C825T-Gprotein β3 subunit C825T）多态性与原发性高血压病（essential hypertension,EH）的关系。采集日本同一个地区健康体检人群为研究对象,共4,830例,其中高血压组（HT：2,092例）,正常血压组（NT：2,738例）。对体检对象做：体重指数（BMI）、吸烟,饮酒等环境因素和血浆胆固醇、甘油三酯等血液生化指标的测量。并用Taqman—PCR化学分析方法对GNB3基因的C825T多态性进行分型检测。GNB3基因的C825T多态性符合Hardy—Weinberg平衡遗传规律。在HT与NT之间,CC、CT、TT遗传表型的频率为NT：24．8％,47．8％和27．4％;HT：22．9％,51．7％和25．4％。C等位基因频率分别为NT：48．72％及HT：48．78％;C825T基因型在HT及NT组之间有显著性差异,基因型频率CC／CT＋TT：P=0．027;OR：1．169;CI95％：1．019～1．341;等位基因频率在两组之间也有统计学差异。C,T：P=0．001;OR：1．154;CI95％：1．064—1．252。CT＋TT基因型携带者发生EH病的危险性为CC基因型携带者的1．169倍（OR）。GNB3基因的C825T的T等位基因EH发病危险是C的1．154倍。GNB3的C825T基因多态性可能是日本人群EH的一个候选基因。     

ACE基因多态性与高血压患者慢性肾脏病的相关性

高血压是导致肾脏疾病发生发展的重要因素之一,它是一种多因素、复杂的、多基因疾病,是多种危险基因与环境因素相互作用的结果.本研究旨在探讨ACE-1基因多态性作为高血压患者CKD的危险因素.本研究对300例患者进行研究,其中将210例无CKD高血压患者作为对照组.此外,还记录了患者基本信息,包括年龄、性别、身体质量指数(B...     

重庆居民5-HT2A基因多态性与原发性高血压关系

以聚合酶链PCR法分析重庆市一般人群的5-HT2A基因C102T多态性(样本总数348人,其中高血压组:HT=137例,非高血压组:NT=211例)的临床指标间的相关性与频率分布。了解重庆地区汉族人群5-羟色胺受体2基因(5-hydroxytryptamine receptor gene,5-HT2A)C102T多态性与原发性高血压病(essential hypertension,EH)的关系。卡方检验结果显示5-HT2A的C102T基因多态性(P=0.549)与等位基因频率(P=0.263)在HT与NT之间没有显著性统计学差异;5-HT2A的C102T基因多态性与高血压logistic回归模型分析结果显示也未见显著性差异,卡方值(Wald)为0.399;比值比为0.884;95%的可信区间为0.603~1.296,P值为0.528。一般线性模型分析结果:5-HT2A基因C102T多态性与收缩压,舒张压之间没有显著性统计学差异,PSBP=0.868,PDBP=709。5-HT2A的C102T多态性可能与重庆汉族人群EH无关。     

ACE2基因多态性与高血压患者血压昼夜节律变化相关性研究

目的:研究血管紧张素转换酶2(ACE2)基因多态性与高血压患者血压昼夜节律变化的关系.方法:选择符合入选标准的高血压患者336例,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法,进行ACE2基因分型.根据血压昼夜节律变化,将高血压患者分为勺型与非勺型两组.分析基因型是否为非勺型血压的危险因素.结果:男性勺型组与非勺型组ACE2基因型多态性的分布存在显著差异,勺型组以G等位基因携带者为主.结论:ACE2基因多态性与男性高血压患者血压昼夜节律相关,携带G等位基因的患者可能更易发生夜间血压升高.     

原发性高血压患者血浆ET-1含量与血小板参数相关性研究

目的:探讨血浆内皮素-1 (Endothelin-1,ET-1)含量变化和血小板功能异常在原发性高血压疾病进程中相关性及意义.方法:选择98例原发性高血压患者作为实验组和30例健康受试者作为正常对照组.实验组又根据高血压分级标准分为轻度高血压组(L组),中度高血压组(M组)和重度高血压组(S组),分别检测各组患者血浆ET-1含量和血小板各项参数值.结果:实验组血浆ET-1含量、平均血小板体积(mean platelet volume,MPV)、血小板分布宽度(platelet distribution width,PDW)明显高于对照组(P＜0.05),血小板计数(platelet count,PLT)和血小板压积(platelet hematocrit,PCT)明显低于对照组(P＜0.05);L组、M组和S组ET-1含量、MPV和PDW值呈进行性升高(P＜0.05),PLT和PCT值呈进行性降低(P＜0.05).结论:血浆ET-1含量和血小板各项参数变化与疾病的进展和危重程度存在相关性,对原发性高血压的诊断治疗及预后评估有重要意义.     

ERα-29位基因多态性与HBV相关原发性肝癌易感性的关系

目的:探讨ERα-29位基因多态性与HBV相关原发性肝癌(PHC)易感性的关系。方法:选择100例HBV相关原发性肝癌患者作为研究组,另选择100例健康体检者作为对照组。应用聚合酶链反应-限制性片段长度多态性法检测两组ERα-29位基因多态性。结果:研究组ERα-29位基因TT和TC基因型分布高于对照组,而CC基因型分布低于对照组,差异具有统计学意义(P0.05);研究组T等位基因频率高于对照组,而C等位基因频率低于对照组,差异具有统计学意义(P0.05)。T等位基因发生PHC的风险高于C等位基因(P0.05)。结论:ERα-29位基因多态性与HBV相关原发性肝癌的易感性有关,其中T等位基因发生PHC的风险较高。     

内皮型一氧化氮合酶基因多态性与高血压合并脑梗塞的关系

目的:探讨内皮型一氧化氮合酶(eNOS)基因894G/T多态性与原发性高血压(EH)合并脑梗塞(CI)的关系。方法:应用聚合酶链反应限制性片段长度多态性方法检测湖北地区汉族74例健康者(NT组)、103例原发性高血压无合并症者(EH组)及70例原发性高血压合并脑梗塞者(EH-CI组)的eNOS基因型;生化技术测定其血脂、一氧化氮代谢物(NOM)水平。结果:EH组及EH-CI组患者的T等位基因频率分别为0.224和0.321,均显著高于NT组(P<0.05);且两者之间的T等位基因频率差异显著性(P<0.05);EH-CI组中,GT+TT基因型者的舒张压显著高于GG基因型者(P<0.05),而NOM显著低于GG基因型者。结论:eNOS基因894位G/T多态性可能与汉族高血压病患者伴脑梗塞有关,该位点多态性可能使T等位基因携带者NOM减少,进而参与EH-CI发病。     

血管紧张素Ⅱ 1型受体基因A1166C多态性与新疆维吾尔族高血压相关性研究

目的:探讨新疆维吾尔族人群血管紧张素Ⅱ1型受体基因(AT1R)A1166C多态性与原发性高血压之间的关系,了解该基因多态在维吾尔族群体中的分布情况。方法:选择新疆维吾尔族原发性高血压病患者126例,正常血压者143例,应用多聚酶链反应、限制性片段长度多态性技术(PCR-RFLP)时入选样本进行基因分型。结果:AT1R基因A1166C多态符合Hardy-Weinberg平衡;AA、AC各基因型频率在维吾尔族病例组和对照组分别为73%、27%和74．8%、25．2%,差异无统计学意义(P＞0．05),C等位基因频率分别为13．5%和12．6%,差异亦无统计学意义(P＞0．05)。结论:AT1R基因A1166C多态可能不是新疆维吾尔族原发性高血压病的遗传易感指标。     

Association of T174M polymorphism of angiotensinogen gene with essential hypertension: A meta-analysis

The association between T174M polymorphism of angiotensinogen gene and essential hypertension risk remains controversial. We herein performed a meta-analysis to achieve a reliable estimation of their relationship. All the studies published up to May 2013 on the association between T174M polymorphism and essential hypertension risk were identified by searching the electronic repositories PubMed, MEDLINE and EMBASE, Springer, Elsevier Science Direct, Cochrane Library and Google Scholar. Data were extracted and pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were calculated. Ultimately, nine eligible studies, including 2188 essential hypertension cases and 2459 controls, were enrolled in this meta-analysis. No significant associations were found under the overall ORs for M-allele comparison (M vs. T, pooled OR 0.92, 95% CI 0.62–1.37), MM vs. TT (pooled OR 0.86, 95% CI 0.29–2.51), TM vs. TT n (pooled OR 0.91, 95% CI 0.63–1.32), recessive model (MM vs. TT+TM, pooled OR 0.89, 95% CI 0.35–2.30), dominant model (MM+TM vs. TT, pooled OR 0.91, 95% CI 0.60–1.38) between T174M polymorphism and risk for essential hypertension. This meta-analysis suggested that the T174M polymorphism of the angiotensinogen gene might not be associated with the susceptibility of essential hypertension in Asian or European populations.     

Association of the T174M Polymorphism of the Angiotensinogen Gene with Essential Hypertension in Russians and Tatars from Bashkortostan

The alleles and genotypes of the T174M polymorphism of the angiotensinogen gene were PCR-analyzed in Russians and Tatars from Bashkortostan. The genotype frequency distribution observed in either ethnic group did not differ from that reported for other populations. The T174M polymorphism was tested for association with essential hypertension (EH). Genotypes TT, TM, and MM were found respectively in 82.56, 13.95, and 3.49% normotensive Russians and in 83.81, 16.19, and 0% normotensive Tatars. The frequency of genotype TM in patients with EH onset beyond 45 years of age was significantly higher than in controls of the same age without signs of cardiovascular disorders (51.72 vs. 11.11% in Russians and 45.45 vs. 16% in Tatars). Patients with EH onset under 45 did not differ in genotype frequency distribution from normotensive subjects of the same age. Genotype TM was associated with higher risk of EH in people over 45.     

The analysis of digital-palmar dermatoglyphics in a sample of individuals affected by essential hypertension

In this research the digital and palmar dermatoglyphics of a sample of 97 individuals from Sardinia affected by essential hypertension were examined with the aim of identifying possible peculiarities. As already observed by other authors, the tendency towards a distal position of the axial triradius, a dermatoglyphic characteristic common in many pathologies, was also confirmed in our sample. Furthermore, some characteristics not observed in previous works which are distinctive to hypertensive subjects of both sexes are identified: a transversal tendency of the ridges and a greater asymmetry of the TRC (total ridge count). The asymmetry of the TRC is usually explained as a consequence of disturbances during embryologic development; in our case these disturbances seem to be represented by changes in arterial pressure levels originating during the prenatal period.