脑钠素rs198388基因多态性与湖南汉族人群原发性高血压易感性的关联

目的：探讨脑钠素rs198388基因多态性与湖南汉族人群中原发性高血压易感性的关系。方法：选择高血压病人567例（高血压组）,同期健康者555例（对照组）。2组之间性别、年龄、抽烟和饮酒史差异无统计学意义。对2组进行血压测量,空腹12 h以上采血检测血糖、总胆固醇、甘油三酯、高密度脂蛋白胆固醇和低密度脂蛋白胆固醇等水平。应用聚合酶链反应-限制性片段长度多态性方法进行DNA多态性分析,琼脂糖凝胶电泳判断基因型。结果：检测到GG,GA,AA 3种基因型。在高血压病组与对照组之间基因型构成比差异有统计学意义（P<0.05）。高血压组GA和AA基因型及A等位基因频率（12.3%和6.9%）显著低于对照组（18.4%和9.7%,P=0.009和P=0.014）。结论：脑钠素rs198388基因多态性可能与湖南地区汉族人群原发性高血压易感性有关,携带rs198388 GA和AA基因型及A等位基因者发生高血压的风险可能较小。     

苯乙醇胺-N-甲基转移酶G-390A基因多态性与长沙地区汉族人群原发性高血压易感性的关联

目的：探讨苯乙醇胺-N-甲基转移酶（PNMT）G-390A基因多态性与长沙地区汉族人群原发性高血压遗传易感性的关系。方法：应用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP）的分析方法,在400例原发性高血压患者和388例健康人群中对PNMT基因G-390A位点进行基因分型。结果：高血压病例组PNMT基因G-390A多态位点GG,GA和AA基因型频率分别为39.3%,50.0%和10.8%,对照组G-390A多态位点GG,GA和AA基因型频率分别为43.6%,45.6%和10.8%;病例与对照组间基因型分布无统计学差异（P=0.433）;高血压病例组G-390A等位基因的频率为35.8%,对照组为33.6%,G-390A等位基因频率在高血压病例与对照组中分布也无统计学差异（P=0.378）;经Logistic回归分析显示,PNMTG-390A多态性与原发性高血压的发病风险无关;通过对性别进行分层分析,男性病例组与对照组之间PNMTG-390A的基因型分布具有统计学差异（P〈0.05）,病例组A等位基因频率显著高于对照组（P=0.046）;女性病例和对照组间G-390A多态基因型和等位基因频率分布均无统计学差异（P〉0.05）。结论：PNMTG-390A的遗传多态性可能与长沙地区汉族人群男性原发性高血压的易感性相关。     

苯乙醇胺-N-甲基转移酶G-390A基因多态性与 长沙地区汉族人群原发性高血压易感性的关联

目的：探讨苯乙醇胺-N-甲基转移酶（PNMT）G-390A基因多态性与长沙地区汉族人群原发性高血压遗传易感性的关系。方法：应用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP）的分析方法,在400例原发性高血压患者和388例健康人群中对PNMT基因G-390A位点进行基因分型。结果：高血压病例组PNMT基因G-390A多态位点GG,GA和AA基因型频率分别为 39.3%,50.0%和10.8%,对照组G-390A多态位点GG,GA和AA基因型频率分别为43.6%,45.6%和10.8%;病例与对照组间基因型分布无统计学差异（P=0.433）;高血压病例组G-390A等位基因的频率为35.8%,对照组为33.6%,G-390A等位基因频率在高血压病例与对照组中分布也无统计学差异（P=0.378）;经Logistic回归分析显示,PNMT G-390A多态性与原发性高血压的发病风险无关;通过对性别进行分层分析,男性病例组与对照组之间PNMT G-390A的基因型分布具有统计学差异（P<0.05）,病例组A等位基因频率显著高于对照组 (P=0.046);女性病例和对照组间G-390A多态基因型和等位基因频率分布均无统计学差异（P>0.05）。结论：PNMT G-390A 的遗传多态性可能与长沙地区汉族人群男性原发性高血压的易感性相关。     

CETP基因TaqIB多态性与海南汉族人群原发性高血压的相关性

目的：分析CETP基因TaqIB多态性与海南汉族人群原发性高血压(EH)的相关性。方法收集2013年3月至2014年1月在海南省干部疗养院进行体检及治疗的海南省汉族301名健康对照人群(对照组)和218例EH患者(EH组)的全血DNA,利用多聚酶链式反应/限制性片段长度多态性(PCR/RFLP)检测CETP基因TaqIB多态位点的基因型,利用SPSS21.0对检测结果进行统计学分析。结果 EH组人群的B1B1、B1B2和B2B2频率分别为38.53%、47.25%、14.22%,对照组人群分别为45.18%、39.87%、14.95%。EH组人群的B1和B2等位基因频率分别为62.16%、37.84%,对照组分别为65.12%、34.88%,上述各项指标组间两两比较差异均无统计学意义（P>0.05）;EH组CETP基因TaqIB位点B1B1、B1B2和B2B2基因型和B1/B2等位基因频率分布和对照组比较差异均无统计学意义(P>0.05)。结论 CETP基因TaqIB位点多态性与海南汉族人群EH无显著相关性。     

卵泡刺激素受体及酪氨酸羟化酶基因多态性与子痫前期的关系

目的 探讨卵泡刺激素受体基因(FSHR)rs1394205多态性和酪氨酸羟化酶基因(TH)rs2070762多态性与子痫前期(PE)发病的关系.方法 采用TaqMan探针法,对105例PE患者和103例正常妊娠妇女的FSHR rs1394205多态性和TH rs2070762多态性位点进行基因型分析.结果 PE组FSHR rs1394205的基因型频率CC、CT、TT分别为23.8%、50.5%、25.7%,等位基因频率C、T分别为49.0%,51.0%.对照组基因型频率CC、CT、TT分别为23.3%、52.4%、24.3%,等位基因频率C、T分别为49.5%,50.5%,两组比较差异无统计学意义(P＞0.05);PE组TH基因rs2070762基因型频率CC、CT、TT分别为18.1%、56.2%、25.7%,等位基因频率C、T分别为46.2%,53.8%.对照组基因型频率CC、CT、TT分别为14.6%、42.7%、42.7%,等位基因频率C、T分别为35.9%、64.1%,两组比较PE组TT基因型频率和等位基因T频率明显低于对照组(P＜0.05).rs1394205和rs2070762均与PE疾病严重程度差异不明显.结论 TH基因rs2070762多态性(基因型,TT和等位基因T)可能是PE的保护性因素,FSHR基因rs1394205多态性与PE发病无关,2个SNP位点与PE的发病程度均无关.     

ADAMTS-1基因多态性与汉族人群原发性高血压相关性研究

目的探讨汉族人群原发性高血压与含血小板反应素的去解联金属蛋白酶1（ADAMTS-1）基因启动子区rs402007（G/C）位点多态性的关联。方法提取汉族469例原发性高血压患者和229例血压正常的健康体检者（正常对照组）外周血液中的基因组DNA。采用多聚酶链反应和基因测序法对包含rs402007多态性位点在内的ADAMTS-1基因-99/+447目的片段进行基因检测,并进行Hardy-Weinberg平衡检验,检测研究群体有无群体代表性。结果原发性高血压组rs402007位点GC+CC基因型频率、C等位基因频率均高于正常对照组,差异均有统计学意义（均P＜0.05）。校正危险因素后,两组间GC+CC基因型频率差异仍有统计学意义（P=0.028,OR=1.809,95%CI：1.067~3.067）。结论ADAMTS-1基因rs402007位点多态性与汉族人群原发性高血压患病相关,C等位基因可能是原发性高血压的易感等位基因。     

朝鲜族和汉族人群原发性高血压与ACE基因多态性的关系

目的：探讨血管紧张素Ⅰ转换酶（ACE）基因多态性与朝鲜族和汉族居民原发性高血压（EH）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106例高血压患者（病例组）和105名健康人（对照组）的 ACE基因型。应用拟合优度χ2检验分析基因型频数分布是否符合Hardy-Weinberg平衡定律;利用SPSS 13.0统计软件分析等位基因和基因型与原发性高血压的关系。 结果: 病例组与对照组ACE基因各基因型频数均符合Hardy-Weinberg平衡定律（P>0.05）;病例组和对照组ACE基因3种基因型（II、DD和ID）和等位基因（I、D）频数分布比较差异均无显著性(P>0.05)。朝鲜族人群高血压组和非高血压组ACE基因型和等位基因频数分布差异无显著性（P>0.05）,汉族人群高血压组和非高血压组ACE基因型和等位基因频数分布差异无显著性（P>0.05）;朝鲜族高血压组和汉族高血压组比较ACE基因型和等位基因频数分布差异无显著性（P>0.05）,朝鲜族非高血压组和汉族非高血压组比较ACE基因型和等位基因频数分布差异无显著性（P>0.05）。结论：ACE基因多态性可能与朝鲜族和汉族原发性高血压发病无关。     

醛糖还原酶基因C-106T 多态性与原发性高血压易感性及其种族差异

目的：研究中国汉族人群中醛糖还原(AR)C-106T 基因多态性的分布情况,比较其频率分布是否存在种族差异,并探讨该多态性与原发性高血压易感性的相关性。方法：应用聚合酶链反应- 限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)的分析方法,在148位原发性高血压病人和137 位正常受试者中,对AR 基因C-106T 多态性进行基因分型。频数分布的比较采用卡方检验,基因型与高血压的关联程度采用95% 置信区间评估。结果：对照人群中AR C-106T 等位的频率为13.9%(95% CI: 11.2%~16.6%), 远低于日本人群(n=712, 18.4%, P=0.0063), 澳大利亚人群(n=240, 37.9%,P<0.0001)和巴西人群(n=62, 34.7%, P<0.0001)。高血压病例和对照人群中AR-C106T 等位基因的频率分别为15.9%(95% CI: 11.6%~20.0%)和11.7%(95% CI: 7.9%~15.5%),两组间基因型分布差异无统计学意义(P=0.147)。结论：醛糖还原酶AR 基因C-106T 多态性的频率分布具有明显的种族差异,该多态性与中国人群原发性高血压的发病风险不相关。     

高血压病肝阳上亢证酪氨酸羟化酶基因多态性分析

为探讨高血压病肝阳上亢证与酷氨酸羟化酶基因（ＴＨ）多态性的相关性,采用西医辩病和中医辩证方法选择研究对象,用Ｓｏｕｔｈｅｒｎ Ｂｌｏｔ分析了肝阳上亢证、肝肾阴虚证和健康人ＴＨ基因多态性,并测定了血浆去甲肾上腺素（ＮＥ）和腺上腺素（Ｅ）。结果表明：高血压病肝阳上亢证患者血浆ＮＥ、Ｅ含量明显高于健康人组和肝肾阴虚证组（Ｐ〈０．０５）,高血压病肝阳上亢证ＴＨ基因有显著扩增（Ｐ〈０．０５）。提示高血压病肝     

中国汉族人群Semaphorin 5A基因多态性与帕金森病易感性的关联研究

目的 探讨Semaphorin 5A(SEMA5A)基因多态性与帕金森病(PD)易感性的关系.方法 选择244例帕金森病患者和174名正常对照,利用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测中国汉族人群中SEMA5A基因的两个基因多态性位点(SNP)和帕金森病易感性的关系,并用基因测序验证结果.结果 SEMA5A基因的多态性位点rs7702187和rs3798097(rs7702187:OR(基因型AT)=0.95,95%CI 0.61～1.48,OR(基因型AA)=1.84,95% CI 0.85～3.99,OR(基因型AT+AA)=1.21,95%CI 0.82～1.77,P>0.05;rs3798097:OR(基因型CT)=1.06,95% CI 0.62～1.79,OR(基因型TT)=0.72,95% CI 0.10～5.18,OR(基因型CT+TT)=1.01,95%CI 0.62～1.67,P>0.05)与PD易感性之间无关联性;与最常见的单倍型TC相比,AC单倍型,TT单倍型均与PD易感性无关(AC单倍型:OR=1.19,95%CI 0.84～1.69,P>0.05;TT单倍型:OR=0.99,95% CI 0.59～1.70,P>0.05).结论 中国汉族人群中,SEMA5A基因与PD发病无相关性.     

Relationship between cystathionine γ-lyase gene polymorphism and essential hypertension in Northern Chinese Han population

Background Hydrogen sulfide （H2S） plays an important role in the smooth muscle cell relaxation and thereby participates in the development of hypertension. Cystathionine γ-lyase is the key enzyme in the endogenous production of H2S. Up to now, the reports on the relationship between the polymorphisms of cystathionine γ-lyase gene （CTH） and essential hypertension （EH） are limited. This study was designed to assess their underlying relationship.
Methods A total of 503 hypertensive patients and 490 age-, gender- and area-matched normotensive controls were enrolled in this study. Based on the FASTSNP, a web server to identify putative functional single nucleotide polymorphisms （SNPs） of genes, we selected two SNPs, rs482843 and rs1021737, in the CTH gene for genotyping. Genotyping was performed by the polymerase chain reaction and restriction fragment length polymorphism method （PCR-RFLP）. The frequencies of the alleles and genotypes between cases and controls were compared by the chi-square test. The program Haplo.stats was used to investigate the relationship between the haplotypes and EH.
Results These two SNPs were in Hardy-Weinberg Equilibrium in both cases and controls. The genotype distribution and allele frequencies of them did not significantly differ between cases and controls （all P〉0.05）. In the stepwise logistic regression analysis we failed to observe their association with hypertension. In addition, none of the four estimated haplotypes or diplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors.
Conclusions The present study suggests that the SNPs rs482843 and rs1021737 of the CTH gene were not associated with essential hypertension in the Northern Chinese Han population. However, replications in other populations and further functional studies are still necessary to clarify the role of the CTH gene in the pathogenesis of EH.     

血管紧张素原基因多态性与原发性高血压之间的关系

目的探讨血管紧张素原（AGT）基因T704C单核苷酸多态性与原发性高血压之间的关系，寻找可能与高血压有关的遗传标记。方法采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）的方法检测中国北方汉族人群AGT基因T704C单核苷酸多态性。结果在研究人群中，AGT基因T、C等位基因频率分别为0．63和0．37，其中患原发性高血压病组T、C等位基因频率分别为0．59和0.41。CC基因型组的原发性高血压患病率达50．00％，明显高于TC基因型组（17.02%）和TT基因型组（16.76%）（P〈0．05），此趋势在男性人群中表现更明显（P〈0．01）。突变纯合型（CC）与杂合子（TC）、野生型（TT）相比，SBP和DBP值显著升高（P〈0．01）。结论携带AGT基因突变纯合子CC基因型个体可能有较高的原发性高血压患病倾向，且在男性人群此趋势更加明显。     

吉林汉族人群ERAP1基因3'UTR单核苷酸多态性与原发性高血压的关联性分析

目的:探讨ERAP1基因在高血压患者外周血中的表达,鉴定ERAP1基因3'UTR区与原发性高血压有关联的候选单核苷酸多态性(SNPs)位点。方法:在吉林地区汉族人群中选取高血压患者300例(高血压组)及正常对照者233名(对照组)进行病例对照研究,采用ELISA法检测研究对象的外周血中ERAP1表达水平,混池测序法鉴定ERAP1基因 3'UTR区SNPs位点,采用PCR测序的方法对研究对象进行测序分型。结果:高血压组患者外周血中ERAP1表达水平明显低于对照组 (P<0.05);ERAP1基因 3'UTR区鉴定出2个SNPs位点E20-790G >A和E20-816C >T,E20-816C >T位点的等位基因及基因型频数分布在高血压组和对照组间差异有统计学意义(P<0.05);排除混杂因素后,Logistic回归分析,E20-816C>T位点CT基因型频数在高血压组中显著降低(P<0.05,OR=0.145,95% CI:0.031-0.675)。结论:在吉林地区汉族人群中,ERAP1基因E20-816C>T位点多态性可能与原发性高血压有关联,高血压中CT基因型频数的降低可能与ERAP1表达下调有关联。     

Thrombomodulin gene polymorphism and thrombomodulin expression in essential hypertension

Patients with hypertension have the characteristics of abnormalities of vessel wall,blood constituents and blood flow. These abnormalities may confer a prothrombotic or hypercoagulable state and are related to the damage of target organs and long-term prognosis. Soluble thrombomodulin （sTM） as abnormalities of levels of specific plasma markers of endothelial damage or dysfunction may relate with the complications of hypertension and the determination of blood pressure itself. TM plays a critical role as a co-factor in the protein C pathway, 1 which is important in regulating coagulation as well as inflammation. Thus we hypothesized that the -33G〉A polymorphism alter thrombomodulin expression and/or impair anticoagulant function, which can predispose to the damage of the target organs during the progress of hypertension. Then, we investigated a possible association of sTM, TM on monocytes and the -33G〉A polymorphism with essential hypertension and cardiovascular disease （CVD） in the Chinese Han ethnic population.     

Association of CALCA genetic polymorphism with essential hypertension

Background Calcitonin gene-related peptide （CGRP） is the predominant neurotransmitter in capsaicin-sensitive sensory nerves. Participation of CGRP in hypertension is one of the most extensively studied topics in the field. There is growing evidence to the effect that CGRP is associated with essential hypertension （EH）. The aims of this study were to pinpoint whether single nucleotide polymorphisms （SNPs） in the genes coding for CALCA were associated with EH susceptibility in a Hunan Han population. Methods A total of 293 subjects with EH and 208 controls were enrolled in the study. Genomic DNA was extracted from peripheral blood leucocytes by a phenol-chloroform method. The CALCA T-692C was genotyped using a restriction fragment length polymorphism method. Results A statistically significant difference in CALCA T-692C genotypic distribution was observed between cases and controls （P=0.001）. Moreover, the frequencies of the C allele were 14.85% in the EH group and 7.45% in the control group, prevalence of C alleles in EH subjects and controls was significantly incomparable （P 〈0.001）. Furthermore, the results of Logistic regression analysis showed that the carriers of C allele （TC＋CC genotypes） were associated with increased EH risk （OR=2.093, 95% CI： 1.317-3.326, P 〈0.01）. Conclusions CALCA genetic polymorphism is associated with EH susceptibility. Carriers of at least one C allele at the polymorphic site CALCA T-692C showed increased risk for EH.