血管紧张素转化酶1基因单倍型与原发性高血压

目的:研究中国人群中血管紧张素转化酶1(ACE1)基因多态性及单倍型与原发性高血压的关系。方法:在298例原发性高血压患者(病例组)与199例血压正常人(对照组)采用PCR后的限制性酶切片段长度多态性(PCR-RFLP)法或电泳直接检测ACE1基因8个位点多态性,同时用最大期望值(EM)计算法进行2位点连锁不平衡(LD)状态和单倍型类型的估计。结果:ACE1基因多态存在LD(均D'>0.5),8个多态存在于常见的9个单倍体中,其中2种最常见的单倍型为A(A-T-A-T-G-I-A-3)和B(C-C-T-C-A-D-G-2),A和B在每个位点都不相同。单个位点除A-240T外,其余各位点均未见与高血压有关联,单倍型D的频率在病例组中高于对照组。结论:该群体中ACE1基因存在LD,T-240位点可能为原发性高血压易感位点LD。     

在中国人群中鉴定发现PBX1基因为1q 23-24区域新的狼疮易感基因

目的用连锁不平衡(linkage disequilibrium)的方法对1号染色体狼疮易感区域进行进一步的精细定位,并由此定位新的系统性红斑狼疮(SLE)候选基因.方法用9对高密度的微卫星标记对1q23-24易感区域进行连锁不平衡分析;用延伸型传递不平衡试验(ETDT)、Gene Hunter和家系为基础的相关分析(FBAT)软件分析连锁不平衡的结果;用TaqMan荧光实时定量聚合酶链反应(PCR)检测候选基因mRNA的表达量;用等位基因分型PCR对候选基因内的4个SNP分型.结果①发现微卫星标记D1S2628 (P＝0.000 987,Pc＝0.001 2)和D1S2673 (P＝0.007 082,Pc＝0.010 4)的等位基因存在整体的显著传递不平衡);②发现D1S2628-119 bp (Pc＝0.001 2;传递∶不传递＝91∶45,P＝0.000 1)和D1S2673-103 bp (Pc＝0.010 4,传递∶不传递＝109∶67,P＝0.0016)等位基因从杂合子父母优势传递给受累后代;③在中国汉族红斑狼疮核心家系中单倍型D1S2628 (119 bp)-D1S2673 (103 bp) (传递∶不传递＝43∶18,P＝0.001 4)和单倍型D1S2628 (119 bp)-D1S2673 (107 bp) (传递∶不传递＝29∶12,P＝0.007 9)存在传递不平衡.在中国汉族SLE患者中PBX1的mRNA的表达量显著下降(P＜0.000 1).PBX1基因中的单倍型SNP1(G)-SNP2(C)优势传递给受累后代.结论在中国汉族人群的1q23区存在与微卫星标记D1S2628和D1S2673物理距离相近的SLE易感基因;PBX1基因表达较低,其SNP单倍型与SLE易感显著相关.这提示PBX1基因可能是一个新的候选基因.     

部分基因组扫描研究2型糖尿病易感基因座位的初步报告

目的　通过部分基因组扫描筛查与 2型糖尿病连锁的位点 ,为进一步定位和克隆 2型糖尿病的易感基因奠定基础。方法　采用以微卫星DNA标记为基础的荧光标记 半自动基因组扫描技术 ,应用Perkin Elmer的试剂盒 (ABIPrismLinkageMappingSetVersion 2 ) ,共 6 3对引物 ,研究 2型糖尿病家系 5 8个 ,共 2 6 4份样品 ,其中糖尿病患者 15 2人 ,非糖尿病患者 112人 ,有同胞关系的患者74人 ,组成 45对患病同胞对 ,对 1号、12号、18号、2 0号染色体进行部分基因组扫描。连锁分析采用GENEHUNTERversion 2连锁分析软件包。结果　非参数连锁分析结果提示 ,1号染色体 1p31区域的D1S2 86 8位点同 2型糖尿病连锁 ,其NPL值为 1.192 ,P值为 0 .0 45 ,2 0号染色体短臂末端 2 0 p13区域的位点D2 0S117和D2 0S889以及 2 0号染色体长臂 2 0q13 .3区域的D2 0S196位点同 2型糖尿病连锁 ,其NPL值分别为 1.36 2、1.36 0、1.199,P值分别为 0 .0 30、0 .0 30和 0 .0 49。结论　 1号染色体短臂 1p31区域及 2 0号染色体短臂 2 0 p13区域及长臂 2 0 q13.3区域可能存在有 2型糖尿病的易感基因。     

AGTRLl基因变异与原发性高血压

目的探讨AGTRLl基因多态性及单倍型与原发性高血雎的相关关系。方法选取上海地区汉族人群原发性高血压家系248家共1042人为研究样本，应用TaqMan MGB荧光探针定量PCR技术，检测各样本．4GTRLl基因启动子区rs10501367和rs7119375基因多态性分型。应用FBAT软件预测陔两个多态性位点可能组成的单倍型．并对多态位点及单倍型与原发性高血压的关系进行分析。结果所选位点基因型频率在研究人群中的分布均符合Hardy—Weinberg遗传平衡定律：应用FBAT（显性模型遗传模式）统计分析结果显示rs10501367、rs7119375及其组成的单倍型G—G与原发性高血联相关。其中rs7119375的G等位基因（Z=2．390，P=0．017）和rs10501367的G等位基因（Z=2．177．P=0．030）可以由亲代下传给患病子代。结论位于AGTRLl基因启动子区的多态性位点与上海地区汉族人群原发性高血乐存在相关关系，单倍型G—G可能对高血压的发病有贡献．     

AGTRL1基因变异与原发性高血压

目的探讨AGTRLl基因多态性及单倍型与原发性高血雎的相关关系。方法选取上海地区汉族人群原发性高血压家系248家共1042人为研究样本，应用TaqMan MGB荧光探针定量PCR技术，检测各样本．4GTRLl基因启动子区rs10501367和rs7119375基因多态性分型。应用FBAT软件预测陔两个多态性位点可能组成的单倍型．并对多态位点及单倍型与原发性高血压的关系进行分析。结果所选位点基因型频率在研究人群中的分布均符合Hardy—Weinberg遗传平衡定律：应用FBAT（显性模型遗传模式）统计分析结果显示rs10501367、rs7119375及其组成的单倍型G—G与原发性高血联相关。其中rs7119375的G等位基因（Z=2．390，P=0．017）和rs10501367的G等位基因（Z=2．177．P=0．030）可以由亲代下传给患病子代。结论位于AGTRLl基因启动子区的多态性位点与上海地区汉族人群原发性高血乐存在相关关系，单倍型G—G可能对高血压的发病有贡献．     

加拿大法裔人群中与肥胖相关的高血压的全基因组连锁分析

原发性高血压是一种由多种机制共同作用的多基因疾病。由肥胖导致的病理改变是与其相关的一个信号通路。我们主要研究高血压的一个亚型——肥胖相关的高血压，以寻找其致病基因。我们入选了55个有两个患病同胞或者更多患者的家系，他们均来自于地理位置偏远的加拿大法裔人群，其中15个家系的肥胖发病率较高（≥70％）。我们在所有的高血压家系和有高肥胖发病率的高血压家系中利用多位点连锁分析方法进行全基因组扫描（GeneHunter 2．1；位点密度：10cm）。在所有55个家庭的扫描中，我们在1号染色体和11号染色体上分别发现了两个连锁值显著（LOD score=2．5）的位点D1S1597和D11S1999。我们对仅患有肥胖高血压的家系进行扫描，在1号染色体的同一区域内发现连锁值最显著（LOD score=3．1）的一个位点是D1S1597。然后我们又D1S1597周围的其他遗传标记进行基因分型，得到了一个连锁更加显著的位点D1S2672（LOD score=3．5）。与肥胖高血压相关的许多候选基因都位于这个区域，其中包括肿瘤坏死因子受体2（tumor necrosis factor receptor 2）和心房利钠肽基因（atrial natriuretic peptide genes）。这些结果表明，研究临床定义明确的高血压亚型可能有助于寻找、鉴定复杂性疾病的致病基因，例如本研究中利用肥胖相关的高血压亚型。     

12个水盐代谢、离子转运候选基因与高血压病连锁分析

目的研究12个水盐代谢、离子转运调节基因与高血压病（EH）的关系，以筛选EH易感基因。方法在每一候选基因的染色体区域附近，选择微卫星DNA多态性位点作为遗传标记，采用微卫星引物荧光标记-基因扫描及分型技术，对95个EH核心家系的477个成员进行微卫星位点与EH连锁分析。遗传统计采用Genehunter软件包中两点非参数连锁（NPL）分析、最大LOD值及传递不平衡检验（TDT）。结果NPL检验显示，D12S398的Z=2.08,P＜0.05；LOD值=1.26,P＜0.01；TDT分析χ2=9.00,P＜0.005。其余位点NPL分析及TDT的P值均>0.05,LOD值<1。结论采用三种不同的遗传统计方法提示D12S398位点与EH存在连锁，并且在D12S398附近有血管加压素1A受体基因,该区域值得进一步研究。     

2个汉族肥厚型心肌病家系致病基因与TCAP基因的关系研究

目的:确定候选基因TCAP与两个汉族家系家族性肥厚型心肌病(HCM)之间的连锁关系.方法:在排除13个已知家族性HCM致病基因与这两个汉族家系家族性HCM的连锁关系基础上,选择TCAP基因作为这两个汉族HCM家系的候选致病基因,在其所在的染色体区域选取4个微卫星标记(Marker)进行单倍型连锁分析.结果:D17S1814、D17S838、D17Sac091178和D17S1818这4个微卫星标记在重组率θ=0时,家系1的LOD值在-2.689754～-0.645666范围内,家系2的LOD值在-1.396476～0.416726之间;在重组率θ=0.1时,两个家系中最大的LOD值仅为0.272605.结论:TCAP基因与这两个汉族家系的HCM无连锁关系,TCAP基因不是这两个家系的致病基因,提示这两个汉族家系的致病基因可能是全新的未知致病基因.     

BTLA基因多态性与慢性HBV感染家系的遗传易感性

目的:探讨中国汉族人群T、B淋巴细胞弱化因子(Band Tlymphocyte attenuator,BTLA)基因单核苷酸多态性(single nucleotide polymorphism,SNP)与慢性乙型肝炎病毒(hepatitis Bvirus,HBV)感染家系的遗传易感性.方法:采用SNaPshot技术检测核心家系中慢性HBV感染者及其家庭成员BTLA基因rs2633562和rs2952323 SNP位点的多态性,采用家系内关联性分析(family-based association test,FBAT)基因型、等位基因及单体型分布频率.结果:单位点S N P遗传关联性分析显示,BTLA基因rs2952323位点多态性与慢性HBV感染的遗传易感有显著的相关性,G/G基因型Z=2.731,P=0.006308,G等位基因在附加遗传模型中Z=2.689,P=0.0007174,隐性遗传模型中Z=2.731,P=0.006308.传统的传递不平衡检验(transmission/disequilibrium test,TDT)和同胞对传递不平衡检验(siblings disequilibrium test,SDT)分析显示无主要的优势等位基因A、C或G从杂合的父母传递给患病子女,P=1.000000,P=0.151590.FBAT单倍型分析结果显示rs2633562-A/rs2952323-G(70.0%)存在优势单倍型传递给患病子女或者患病同胞,在附加遗传模型Z=3.093,P=0.001979,隐性遗传模型中Z=2.825,P=0.004721.结论:BTLA基因位点多态性可能与家族聚集性慢性HBV感染的遗传易感性相关.     

1号染色体上高血压病易感基因的定位研究(大家系同胞对分析)

目的　定位和筛查高血压病 (EH)的易感基因位点。方法　应用染色体多点扫描策略和扩增片段长度多态性分析技术 ,在 1号染色体上选择 11个短串联重复序列 (shorttandemrepeat,STR) ,对一个典型的EH大家系进行同胞对连锁分析。结果　D1S165 6位点的统计量t值为 1.68,具有显著统计学意义 (t>1.64 )。统计每一位点在同胞组中共享最多的等位片段所占比例 ,观察到D1S165 6位点的 15 4bp等位片段与EH患者伴随频率最高 ,占 5 8.4 %。进一步以此片段作为特定因子进行传递不平衡分析 ,传递 15 4bp等位基因的频率显著高于期望值 (χ2td=6.0 0 ,P <0 .0 5 ) ,表明15 4bp片段在传递过程中存在显著连锁不平衡。结论　 1号染色体上的一个遗传标记 (D1S165 6)与EH连锁 ,提示该位点的附近可能存在EH的易感基因 ,这一结果为EH易感基因的进一步定位提供了重要的资料。     

Association of hypertension with single nucleotide polymorphisms in the quantitative trait locus for abdominal obesity-metabolic syndrome on chromosome 17

Genome scan in Chinese revealed an association of blood pressure with the microsatellite marker D17S1303, which lies in a quantitative trait locus for the abdominal obesity-metabolic syndrome (AOMS2) at 17p12 on chromosome 17. We previously reported that D17S1303 was associated with hypertension and obesity. Therefore, we studied 10 single nucleotide polymorphisms (SNP) within 3 kb of D17S1303. One hundred and eighty hypertensive subjects (91 men, 89 women, age 53+/-12 years) and 180 normotensive matched controls (91 men, 89 women, age 52+/-11) were genotyped using the Sequenom genotyping platform. Allelic frequencies in these Chinese subjects differed from those reported for Caucasians. Three SNPs (rs11656507, rs1357926, rs852319) were homozygous in our subjects. The genotype frequencies of rs852320, rs852321 and rs852322 did not differ between hypertensive and normotensive subjects. However, there were significant differences for rs1525402 (P=0.048), rs2692343 (P=0.022), rs2692344 (P=0.017) and rs2321313 (P=0.028). A four-locus haplotype comprising G at rs1525402, C at rs2692343, C at rs2692344 and G at rs2321313 was associated with lower systolic blood pressure (P=0.023) and normotension (P=0.048). Our results provide further evidence that there is a gene, as yet unidentified, influencing blood pressure in the vicinity of D17S1303 in a quantitative trait locus for abdominal obesity-metabolic syndrome at 17p12.     

Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites

BACKGROUND: Several studies have indicated that a region on human chromosome 17 may influence blood pressure. Our group reported positive linkage for hypertension to the region on human chromosome 17, between D17S1814 and D17S800 in white sibling pairs. In this study, we further investigated this result by examining the phenylethanolamine N-methyltransferase (PNMT) gene, which is located at 17q21 within the region where we found linkage. METHODS: A case/control association study was conducted to evaluate the relationship between genetic variants of the PNMT gene and risk for essential hypertension. Two single nucleotide polymorphisms (SNPs) in the promoter region of the gene were genotyped, PNMT-148 and PNMT-353, in three ethnic samples: African American (117 hypertensive, 96 normotensive), American white (91 hypertensive, 80 normotensive), and Greek white (99 hypertensive, 90 normotensive), using the homogeneous mass extend reaction (Sequenom) and RFLP for genotyping. RESULTS: A significant difference in allelic frequency of SNP-353 between hypertensives (38.02%) and normotensives (27.35%) in African Americans (P =.019) was found; however, no significant differences were observed for this SNP for the other ethnic groups. No association was found with SNP PNMT-148 in any of the ethnic groups. Frequencies of haplotypes based on the two SNPs were also compared between hypertensive and normotensive individuals. No significant difference was found in estimated haplotype frequencies between hypertensive and control subjects in the three ethnic groups. CONCLUSIONS: These results suggest that genetic variants of PNMT may play a role in the development of essential hypertension.     

Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene

This study aims to test the implication of regions on chromosomes 9, 17, and 18 in essential hypertension (EH) by combining sibling-pair linkage analysis and case-control association studies. The selection of these chromosomal regions is based on previous evidence of their implication in EH or in related phenotypes by comparative genomics in several rat models and from genome-wide linkage studies in humans. For the affected sibling-pair linkage analysis, 27 microsatellite markers were genotyped in 56 pedigrees from Spain with hypertensive sibling pairs. Linkage analysis showed significant excess allele sharing at the D18S474 marker on 18q21.1, as shown by maximum likelihood of allele sharing methods (logarithm of odds=3.24; P=0.00011) and nonparametric linkage calculations (nonparametric linkage=3.32; P=0.00044). On the contrary, no significant results with any of the markers analyzed on chromosomes 9 and 17 were obtained. We further focused on the Ring finger and KH domain containing 2 (RKHD2) gene located 6 Kb distal from D18S474 and performed a case-control association study based on linkage disequilibrium in 112 hypertensive patients and 156 control subjects. We selected 2 RKHD2-tagged single nucleotide polymorphisms, rs1941958 and rs1893379, covering, in terms of linkage disequilibrium, the entire gene, and observed a significant overrepresentation of the rs1941958G-rs1893379T RKHD2 haplotype in the group of hypertensive patients in comparison with controls (2P=0.0004; odds ratio: 2.32). We also detected epistatic effects between the 2 RKHD2 single nucleotide polymorphisms (2P=0.002; odds ratio: 2.48). Our data confirm the implication of chromosome 18 in EH and support a contribution of RKHD2 to the genetic susceptibility of this complex phenotype.     

Interaction between GNB3 C825T and ACE I/D polymorphisms in essential hypertension in Koreans

Essential hypertension (EH) is considered a typical polygenic disease, so the evaluation of gene-gene interactions rather than the determination of single gene effects is crucial to understanding any genetic influences. The G-protein beta3-subunit (GNB3) 825T allele, associated with enhanced G-protein signalling, is a strong candidate for interactions with polymorphisms, such as insertion/deletion (I/D) polymorphism of angiotensin I-converting enzyme (ACE) gene. We investigated whether there is an association between GNB3 C825T and ACE I/D polymorphisms for the development of EH. We carried out a case-control study of 688 hypertensive and 924 normotensive subjects recruited from South Korea. The GNB3 C825T and ACE I/D genotypes were determined by polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism methods, respectively. The distributions of alleles and genotypes for the GNB3 C825T and ACE I/D polymorphisms were not found to be significantly associated with hypertensive status in either males or females. Logistic regression analysis indicated that the GNB3 825T allele carriers were positively associated with EH in males (odds ratio (OR) for TT/CT, 1.459; 95% confidence interval (CI), 1.048-2.033, P=0.0255). In analysis of gene-gene interaction, we found that there was a significant interaction between the GNB3 825T and ACE D alleles (P<0.05). OR for EH was significantly higher in 825T allele carriers with ACE D allele (OR, 1.490; 95% CI, 1.117-1.987, P=0.0067). A significant interaction between the GNB3 825T and the ACE D alleles may contribute to the predisposing effect for the development of EH in Koreans.     

Deterioration of insulin sensitivity and glucose effectiveness with age and hypertension

BACKGROUND: This study examined the relative role of age and hypertension in deterioration of insulin-dependent (insulin sensitivity, S(I)) and insulin-independent (glucose effectiveness, S(G)) actions on glucose tolerance. METHODS: We applied the minimal model of glucose kinetics to estimate S(I) and S(G) indexes from insulinemia and glycemia data detected during a frequently sampled intravenous glucose tolerance test performed in 21 normoglycemic subjects who were not affected by the metabolic syndrome (MS): seven young normotensive subjects (YN; mean age 29.3 +/- 1.5 years), six elderly normotensive subjects (EN; mean age 57.0 +/- 3.4 years) and eight elderly hypertensive patients (EH; mean age 62.1 +/- 2.1 years). RESULTS: Both normotensive subject groups (YN and EN) showed no significant difference in S(I) estimates despite significantly different age, whereas a significant reduction was evident in the EH patients compared with these groups. Mean estimates of S(G) showed no significant difference in elderly subject groups (EN and EH), irrespective of hypertension, whereas a significant increase was evident in the YN (analysis of variance followed by Scheffé test, P < .05). CONCLUSIONS: Our study demonstrates that, in the absence of MS: 1) insulin sensitivity in normotensive subjects is independent of age; b) hypertension is associated with insulin resistance in elderly subjects; and c) age is a primary predictor of deterioration in glucose effectiveness, independent of hypertension.     

GNB3 gene C825T and ACE gene I/D polymorphisms in essential hypertension in a Kazakh genetic isolate

The Kazakh inhabitants living in Barkol pasture of northeast China belong to a genetic isolate characterized by ethnically homogeneous and a communal pastoral lifestyle. To investigate whether the polymorphisms in the G-protein beta-3 subunit (GNB3) gene and angiotensin-converting enzyme (ACE) gene are associated with essential hypertension (EH), we carried out a case-control study of 290 hypertensive subjects and 244 normotensive (NT) controls randomly selected from Kazakh populations of Barkol. A previous medical history of diabetes and hypertension, and body mass index (BMI) was recorded. Plasma glucose, triglyceride, and cholesterol were measured. The insertion/deletion (I/D) polymorphism of the ACE gene and the C825T polymorphism of the GNB3 gene were determined by the polymerase chain reaction (PCR) technique. The distributions of genotypes and alleles for the two polymorphisms did not differ significantly between the case and control populations, and odds ratio of EH related to the ACE gene D allele and GNB3 gene T allele was not significantly different from 1.0. Logistic regression analysis shows the variation at the GNB3 and ACE did not have any statistically significant synergistic effect on blood pressure (BP). Stratification of NT and untreated hypertensives according to I/D polymorphism of ACE gene and C825T polymorphism of GNB3 gene disclosed no significant difference across genotypes with respect to BMI, glucose, triglyceride, cholesterol, systolic and diastolic BP. In conclusion, the polymorphisms in the GNB3 gene and ACE gene, solely or combined, did not confer a significantly increased risk for the development of EH in the Kazakh isolate of northeast China.     

Association of angiotensin-converting enzyme gene polymorphism with pulse pressure and its interaction with obesity status in Heilongjiang province

Angiotensin I converting enzyme (ACE) gene is one of the most-studied candidate genes related to essential hypertension (EH). Pulse pressure (PP) may reflect vascular stiffness, especially in patients with EH, and has been used to predict EH. Previous evidence has indicated that obesity is a traditional risk factor of hypertension. The aim of the present study was to investigate the interaction between the obesity status and ACE gene polymorphisms on the development of high level of PP. A total of 1980 adults (1024 hypertensive and 956 normotensive) were included in this study and genotyped for ACE gene polymorphisms. The results showed that rs4343 and rs4351 in ACE gene were risk factors of high level of pulse pressure (p < 0.05). We also detected positive interactions between the two SNPs and obesity status in the pathway of high level PP.     

Angiotensin-converting enzyme gene polymorphism and its association with essential hypertension in a Tibetan population.

There is strong evidence to support the idea that the renin-angiotensin system (RAS) plays an important role in the pathogenesis of essential hypertension (EH) and its complications. However, existing data about the association of angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism with blood pressure is conflicting, mainly due to racial differences and environmental exposure status. We therefore conducted a case control study to observe the relationship between ACE I/D polymorphism and EH in a Tibetan population who live in relatively isolated areas and are genetically homogeneous. The study was conducted at stable residential communities in the urban district of Lhasa, the capital of the Tibet autonomous region, China, and 106 unrelated EH patients and 135 normotensIve subjects were recruited. PCR, PCR/RFLP and PCR-SSCP were carried out to study the association between RAS genes and EH. Frequencies for the DD, ID and II genotypes were 27, 47 and 29 in hypertensive subjects, and 15, 60 and 48 in normotensive subjects, respectively. Derived allele frequencies for the I and D alleles were 0.51 and 0.49 in hypertensive subjects and 0.64 and 0.36 in normotensive subjects. There were significant differences in genotype distribution and derived allele frequency between these two groups. The genotype and allele frequencies of the ACE gene differed significantly between hypertensive and normotensive females (p>0.05), but there were no differences in males. In females, the DBP and MAP level were significantly higher for the DD than for the ID and II genotype, and SBP was significantly higher for the DD than for the II genotype. But in males, there were no significant differences in blood pressure among ACE genotypes. The results showed a significant association between the D allele of the ACE gene and hypertension in Tibetan women but not in Tibetan men.     

多巴胺受体D1基因—48A／G多态性与原发性高血压病的关联研究

目的探讨多巴胺受体D1基因 4 8A/G多态性与原发性高血压病相关性。方法运用聚合酶链反应一限制性片段长度多态性法 (PCR RFLP)分析了解 - 4 8A/G基因型在原发性高血压病组和正常血压对照组的分布情况。结果等位基因A ,G在原发性高血压病组和对照组的分布频率分别为 0 78,0 2 2和 0 86 ,0 14 ,基因频率分布符合Hardy Weinberg平衡 ,样本具有群体代表性 ,两组人群的基因型和等位基因频率存在明显统计学差异 (P <0 0 1,P <0 0 1)。原发性高血压组中G等位基因 ,舒张压明显高于A等位基因 (P <0 0 5 )。结论在中国人群中 ,多巴胺受体D1基因 4 8A/G多态性与原发性高血压病显著性相关     

Similar frequencies of renin gene restriction fragment length polymorphisms in hypertensive and normotensive subjects

A prospective study was conducted to compare the frequency of renin gene polymorphisms in normotensive and hypertensive subjects. Hypertensive (n = 102, blood pressure 168 +/- 17/103 +/- 9 mm Hg) and normotensive (n = 120, blood pressure 122 +/- 10/75 +/- 9 mm Hg) subjects were white, had similar age and sex distributions (hypertensive group, 45 +/- 10 years old and 52% female; normotensive group, 44 +/- 9 years old and 55% female) and similar body mass index (hypertensive group, 23.2 +/- 2.6; normotensive group, 22.5 +/- 2.4 kg/m2, p = 0.048). The familial susceptibility to hypertension was defined as at least one parent and one sibling who were hypertensive before age 65; subjects in the normotensive group had no familial history of hypertension. Renin gene polymorphisms located throughout the renin gene were identified by using three restriction enzymes (Taq I, HinfI, HindIII). For each polymorphic restriction site, allele frequencies were similar in the hypertensive and the normotensive groups. In the absence of parental genotypes, the haplotype frequencies combining the three restriction fragment length polymorphisms were estimated by using maximum likelihood techniques and were similar in both groups (hypertensive group, 0.429, 0.277, and 0.177; normotensive group, 0.453, 0.245, and 0.195 for the three most common haplotypes). A rare haplotype detected by Taq I/Hind III was apparently more frequent in the hypertensive than in the normotensive group (hypertensive group, tH 0.086, th 0.022; normotensive group, tH 0.038, th 0.050), but the difference was not statistically significant. In conclusion, no association between renin gene polymorphisms and essential hypertension was demonstrated in the present study.