The ACE gene insertion/deletion polymorphism and elite endurance swimming

Human physical performance is influenced by genetic factors. A variation in the human angiotensin I-converting enzyme (ACE) gene has been identified, in which the insertion (I) variant may be associated with elite endurance performance, and the deletion (D) variant seems overrepresented amongst elite sprinters and short-distance swimmer status. We might thus anticipate I-allele frequency to be elevated amongst swimmers competing over very much greater distances, and have examined this hypothesis. Thirty-five truly elite very-long-distance swimmers were classified as better at 1- to 10-km distances (n=19, SLD group) or those best at 25-km races (n=16, LLD group). Genotype frequencies (II versus ID versus DD) differed between the two groups: 6% versus 47% versus 47% for SLD, and 18.8% versus 75% versus 6.2% for LLD (P=0.01). I-allele frequency was 0.29 for the shorter distance swimmers, and 0.59 for the 25 km group. These data are consistent with an association of ACE I allele with longer distance swimming, and the ACE D allele with swimming shorter distances.     

Disease progression, response to ACEI/ATRA therapy and influence of ACE gene in IgA nephritis

Various studies have shown that angiotensin-converting enzyme （ACE） gene insertion/deletion （ID） polymorphism may play a role in the progression to end stage renal failure （ESRF） in patients with IgA nephritis （IgAN）. In this randomized controlled trial, patients were followed up for 5 years to determine their long-term renal outcome to ACEI/ATRA therapy and to ascertain if their ACE gene profile could play a role in determining their response to therapy. Seventy-five patients with IgAN were enlisted. Thirty-seven were on ACEI/ATRA therapy for 62 ± 5 months and thirty-eight were untreated and served as controls. All patients had their ACE gene ID polymorphism genotyped. Compared to controls, treated patients had lower serum creatinine （p 〈 0.001）, lower proteinuria （p 〈 0.002） and fewer numbers progressing to ESRF （p 〈 0.002）. Among patients with genotype II, there were less ESRF in the treatment group when compared to the untreated control group （p 〈 0.02）. The advantage of therapy was not seen in patients with ID or DD genotypes. ACEI/ATRA therapy was found to be effective in retarding disease progression in IgAN with years to ESRF significantly extended in patients at all levels of renal function, including patients whose outcome were ESRF. Genotyping showed better response to therapy only for those with genotype Ⅱ. The common mechanism is probably through lower levels of ACE, glomerular pressure and proteinuria resulting in reduced renal damage and retardation of progression to ESRF. Cellular ＆ Molecular Immunology.     

Influence of the angiotensin-converting enzyme gene insertion/deletion polymorphism on lipoprotein/lipid response to gemfibrozil

Evidence suggests that fibrate therapy reduces the risk of recurrent coronary heart disease among men with low levels of high density lipoprotein cholesterol (HDL-C). Indirect observations and new possible biological pathways suggest that the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism might modulate the lipoprotein/lipid profile and its response to fibrate therapy. To assess the possible interaction between fibrate therapy and such variants on plasma lipid and lipoprotein levels, 65 dyslipidemic abdominally obese men were treated for 6 months with or without gemfibrozil (600 mg twice daily). No differences in baseline plasma lipid and lipoprotein levels were found between genotype groups except for the HDL(3)-C subfraction, which was higher in the DD group (p = 0.02). A two-way factorial ANOVA was used to evaluate the effect of the genotype (DD homozygotes vs I allele carriers), the treatment (placebo vs gemfibrozil), and the interaction between these two independent variables on changes observed in lipid and lipoprotein concentrations. A significant genotype-by-treatment interaction (p = 0.02) was found for the plasma HDL-C response to the intervention program. In fact, having the DD genotype and being treated with gemfibrozil had a synergical effect on HDL-C levels. The results of this study suggest that the ACE I/D polymorphism influences the effect of gemfibrozil on plasma HDL-C levels.     

Association between matrix metalloproteinase gene polymorphisms and development of ischemic stroke

We investigated the association between MMP2 rs243865, MMP3 rs3025058 and MMP9 rs3918242 polymorphisms and development of ischemic stroke in a Chinese population. Between January 2012 and May 2014, a total of 317 patients with ischemic stroke and 317 health control subjects were enrolled into our study. The MMP2 rs243865, MMP3 rs3025058 and MMP9 rs3918242 polymorphisms were analyzed using polymerase chain reaction (PCR) coupled with restriction fragment length polymorphism (RFLP). By multivariate logistic regression analysis, we found that individuals carrying with the CC genotype and the TC+CC genotype of MMP9 rs3918242 were associated with a significantly increased risk of ischemic stroke when compared with the TT genotype, and the ORs (95% CI) was 5.47 (2.64-12.38) and 1.55 (1.08-2.24), respectively. The TC+CC genotype of MMP9 rs3918242 was associated with an elevated risk of ischemic stroke in tobacco smokers, and the OR (95% CI) was 2.03 (1.11-3.74). In conclusion, our study suggests that MMP9 rs3918242 polymorphism is correlated with an elevated risk of ischemic stroke, and this gene polymorphism has interaction with tobacco smoking in the risk of ischemic stroke.     

Association between angiotensin I-converting enzyme gene polymorphism and susceptibility to cancer: a meta analysis

Background: Angiotensin I-converting enzyme (ACE) gene plays an important role in the pathogenesis of cancers. The association between ACE insertion/deletion (I/D) polymorphism and the risk of various cancers has been studied. However, the results of these studies remain conflicting. Therefore, we performed a meta-analysis to evaluate the association between ACE I/D polymorphism and the risk of cancers. Methods: PubMed, Embase, ScienceDirect, Springer, CNKI, Wanfang, Weipu, CBM databases and Google Scholar were searched for case-control studies on ACE I/D polymorphism and the risk of cancers, published up to Dec 31, 2013. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of the association between ACE I/D polymorphism and cancer risk. Results: Thirty-five published studies with 5007 cases and 8173 controls were included. Overall, there were no significant association between ACE I/D polymorphism and the risk of cancers (II vs. ID+DD OR = 1.05, 95% CI = 0.89-1.23, I vs. D OR = 1.00, 95% CI = 0.89-1.13). However, when stratified by ethnicity, we found a significant association between this polymorphism and cancer risk in Caucasians (II vs. ID+DD: OR = 1.43, 95% CI = 1.02-2.00, I vs. D: OR = 1.23, 95% CI 1.01-1.49). Conclusion: ACE I/D polymorphism is associated with the cancer risk in Caucasians.     

基质金属蛋白酶-3基因多态性与脑卒中亚型的相关性

目的 探讨中国北方汉族人群基质金属蛋白酶-3(matrix metalloproteinase-3,MMP-3)基因多态性与缺血性脑卒中(ischemic stroke,IS)亚型的相关性.方法 应用病例对照研究,选取289例急性缺血性脑卒中患者(发病≤3d)和175名同期健康体检者.卒中组按急性卒中治疗低分子肝素试验病因分型法分为大动脉粥样硬化性(large artery atherosclerotic,LAA)脑卒中185例,小动脉闭塞性(small artery occlusion,SAO)脑卒中104例.选取MMP-3基因rs3025058(-11715A/6A),rs522616(-709A/G)及rs679620(133A/G)3个常见单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点,应用聚合酶链反应限制性片段长度多态性或直接测序法对MMP-3基因3个SNP位点进行基因分型.结果 3个位点存在不完全连锁不平衡,且基因多态性均与LAA型脑卒中相关(P＜0.05).在显性模型中,rs3025058位点5A5A+5A6A基因型携带者患LAA型脑卒中的风险是6A6A基因型携带者的1.72倍(P=0.017,OR=1.72,95％CI:1.10～2.69);rs522616位点GG+ AG基因型携带者患LAA型脑卒中的风险是AA基因型携带者的0.52倍(P=0.005,OR=0.52,95％CI:0.33～0.82);rs679620位点AA+ GA基因型携带者患LAA型脑卒中的风险是AA基因型携带者的1.55倍(P=0.042,OR=1.55,95％CI:1.01～2.37).但是,3个SNPs基因型和等位基因频率在对照组与SAO型脑卒中之间差异无统计学意义(P＞0.05).另外,LAA组5A-A-A及6A-A-A单倍型高于对照组,差异有统计学意义(P＜0.05),而6A-G-G单倍型显著低于对照组(P＜0.01).结论 MMP-3血清水平在LAA型脑卒中急性期增高明显,SAO型脑卒中次之;中国北方汉族人群MMP-3基因rs3025058,rs522616及rs679620多态性可能与LAA型脑卒中易感性相关.     

整合素基因多态性与缺血性脑卒中及血脂的相关研究

目的 探讨整合素-α2基因(integrin alpha-2,ITGA2)C807T和整合索-β3基因(integrinbeta-3,ITGB3)T176C多态性与缺血性脑卒中的关系及其对血脂、脂蛋白水平的影响.方法 应用聚合酶链反应-限制性片段长度多态性和DNA测序的方法检测265例缺血性脑卒中患者和280名对照组ITGA2和ITGB3的基因型;同时按常规方法测定血浆脂质、脂蛋白水平.结果 缺血性脑卒中组总胆固醇(totalcholesterol,TC),甘油三酯(triacylglycerol,TG)、低密度脂蛋白-胆固醇(low density lipoprotein-cholesterol,LDL-C)水平明显高于对照组(P<0.05),ITGB3基因T176C多态性在缺血性脑卒中组和正常人群中的分布差异无统计学意义(P>0.05).而ITGA2基因C807T多态性在两组人群中的分布差异有统计学意义(P<0.05),等位基因频率的相对风险分析发现,T等位基因携带者患缺血性脑卒中的风险是C等位基因的1.455倍(OR=1.455,95%CI:1.134～1.866),携带T等位基因的缺血性脑卒中个体血浆TC水平显著高于不携带者(P<0.05).结论 ITGA2基因C807T多态性与缺血性脑卒中的发病具有相关性,其中T等位基因可能是缺血性脑卒中的遗传易感基因;ITGA2基因C807T多态性可能通过影响血脂水平而影响缺血性脑卒中的发生.     

Association between IL-10 gene polymorphisms and the risk of ischemic stroke in a Chinese population

We investigated the possible association between two SNPs of IL-10 (IL-10 -1082A/G and -819T/C) and the susceptibility to ischemic stroke. Patients with proven ischemic stroke and control subjects were recruited between March 2013 and May 2015. The IL-10 -1082A/G and -819T/C polymorphisms were assessed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Conditional logistic regression analyses revealed that the GA and the AA genotypes were associated with development of ischemic stroke, and the ORs (95% CI) for the GA and the AA genotypes of IL-10 -1082A/G were 1.49 (1.01-2.19) and 1.83 (1.02-3.29) compared with the GG genotype, respectively. In dominant model, the GA+AA genotype of IL-10 -1082G/A was correlated with increased risk of ischemic stroke compared to the GG genotype (OR=1.56, 95% CI=1.08-2.25). The GA+AA genotype was associated with moderately increased risk of ischemic stroke in smokers (OR=1.72, 95% CI=1.04-2.84). In conclusion, our study suggests that IL-10 gene polymorphisms contribute to the development of ischemic stroke, especially in tobacco smokers.     

PAI-1启动子区4G/5G基因多态性、ACE插入/缺失多态性与脑卒中的相关性

目的探讨纤溶酶原激活物抑制物-1(PAI-1)启动子区基因多态性和血管紧张素转换酶(ACE)插入/缺失多态性与脑卒中的关系。方法 PCR检测203例脑卒中患者和139名健康对照者PAI-1基因启动子区4G/5G多态性、ACE基因插入/缺失多态性,同时应用比色法测定血清ACE活性,发色底物法测定PAI-1活性。结果脑梗死(CI)组PAI-1活性(0.769±0.163 AU/mL)、ACE活性(43.42±14.36 U/L)明显高于对照组(0.652±0.116 AU/mL和31.28±8.64 U/L,P<0.01);CI组PAI-I基因4G纯合子、ACE D/I基因DD纯合子比例明显高于对照组(P<0.01);PAI-I基因4G/4G基因型与ACE基因D/D基因型对CI发病可相互协同作用(P<0.01)。结论 PAI-1基因4G/4G基因型和ACE基因D/D基因型均可能是CI发病的危险因素,且具有协同作用。     

Association of angiotensin-converting enzyme insertion/deletion polymorphism with obesity,cardiovascular risk factors and exercise-mediated changes in Korean women

This study examined whether the angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) polymorphism is associated with obesity, cardiovascular risk factors and 12-week exercise-mediated changes in Korean women. A total of 105 subjects were divided into three groups as II, ID and DD genotype groups based upon ACE I/D genotypes. Body composition and cardiovascular risk factors were compared among the three groups, and the association of ACE I/D genotypes with obesity and hypertension was evaluated. Total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels were higher (P < 0.05) in the DD genotype than in II or ID genotypes. D allele frequency in ACE I/D gene had a higher (P = 0.063) trend in the hypertensive group than the normotensive group. The DD genotype had a trend to develop (odds ratio 4.032, P = 0.086) more hypertension than the II genotype. The II and ID genotypes showed a significant (P < 0.05) decrease in intima media thickness of the carotid artery after an exercise intervention, whereas the DD genotype showed an increase. In conclusion, there is a trend towards association of ACE I/D polymorphism with hypertension but not with obesity. Exercise-mediated changes did not differ significantly among genotypes except IMTCA.     

Association of two polymorphisms in the FADS1/FADS2 gene cluster and the risk of coronary artery disease and ischemic stroke

Little is known about the association of the FADS1/FADS2 SNPs and serum lipid levels and the risk of coronary artery disease (CAD) and ischemic stroke (IS) in the Chinese southern population. The present study aimed to determine such association in the Chinese southern population. A total of 1,669 unrelated subjects (CAD, 534; IS, 553; and healthy controls, 582) were recruited in the study. Genotypes of the FADS1 rs174546 SNP and the FADS2 rs174601 SNP were determined by the SNaPshot Multiplex Kit. The T allele and TT genotype frequencies of the two SNPs were predominant in our study population. The T alleles were associated with increased risk of CAD and IS. Correspondingly, the C alleles were associated with reduced risk of CAD and IS. Haplotype analyses showed that the haplotype of T-T (rs174546-rs174601) was associated with an increased risk for IS, and the haplotype of C-C (rs174546-rs174601) was associated with a reduced risk for CAD and IS. The two SNPs were likely to influence serum lipid levels. The T allele carriers of the two SNPs and rs174601 TT genotype were associated with decreased serum HDL-C and ApoAI levels in the patient groups and with an increased risk of CAD and IS. The present study suggests that the FADS1 rs174546 SNP and the FADS2 rs174601 SNP are associated with the risk of CAD and IS, and are likely to influence serum lipid levels. However, further functional studies are needed to clarify how the two SNPs actually affect serum lipid levels and the risk of CAD and IS.     

Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA) gene

Tissue-type plasminogen activator (t-PA), a serine protease, activates the conversion of plasminogen to the fibrinolytic protein, plasmin. The t-PA gene, mapped to chromosome 8p12-p11.2, contains 14 exons. An Alu insertion/deletion (I/D) polymorphism in this gene has been associated with an increased risk for myocardial infarction. In the work reported here we sequenced 11 kilobases (kb) of genomic DNA from 50 normal Japanese volunteers (100 alleles), to include all 14 exons of the t-PA gene, flanking intronic sequences, and 6 kb of the 5′ sequence. These experiments identified eight novel single-nucleotide polymorphisms (SNPs), in addition to the known Alu I/D polymorphism, from which genotypic data we constructed 12 haplotypes in the tested population. Two-way comparisons of SNPs and the Alu polymorphism revealed strong linkage disequilibrium between the Alu site and SNPs at positions 20,209 (χ² = 92.263) and 27,555 (χ² = 47.53), and between SNPs at positions 27,849 and 28,902 (χ² = 66.331). A phylogenic tree was constructed to infer a process of genome construction that would reflect the sequence variations we observed. Our results help to explain the lack of agreement among results of various disease-association studies in which a contribution of the human t-PA gene has been suspected but not always confirmed. Received: January 22, 2001 / Accepted: March 26, 2001     

海南汉族人群中α和β纤维蛋白原基因核苷酸多态性及其单倍型与缺血性脑卒中的关联分析

目的研究α纤维蛋白原基因的Taq Ⅰ多态性和β纤维蛋白原基因-455G／A、-249C／T、-148 C／T、＋1689T／G、βBsmA ⅠG／C、448G／A、Be／ⅠG／A、Hinf Ⅰ A／C单核苷酸多态性及其单倍型与缺血性脑卒中的关系。方法用比浊法测定160例海南籍缺血性脑卒中和130名海南籍对照个体的血浆纤维蛋白原浓度，用PCR-限制性片段长度多态法确定基因型。用EH＋程序分析核苷酸多态性的连锁不平衡关系及单倍型，用卡方检验分析病例组和对照组的等位基因频率、基因型频率及单倍型频率的差异。结果-455G／A、-148C／T、448G／A多态性的基因型频率、等位基因频率在病例组和对照组之间的差异有统计学意义（P〈0．01），其余6个核苷酸多态性的基因型频率、等位基因频率在病例和对照组间的差异无统计学意义（P〉0．05），A^-455、T^-148、A^448携带者患缺血性脑卒中的相对危险度比非携带者分别大2．46倍、2．30倍和2．08倍。连锁不平衡分析未发现所分析的区域内存在单倍型板块。9个位点构建的单倍型在病例组和对照组之间的差异无统计学意义，以4个位点构建的单倍型中，某些单倍型在病例组和对照组之间的差异有统计学意义，对照组中某些携带G^-455、C^148、G^448位点的单倍型的频率高于病例组，而病例组中某些携带A^-455、T^-148、A^448位点的单倍型的频率高于对照组。结论多个位点和单倍型分析的结果提示8纤维白原455G／A、-148C／T、448G／A可能是海南汉族人群中与缺血性脑卒中关联的危险因素。     

Genetic variation of the angiotensin-converting enzyme gene: increased frequency of the insertion allele in Koreans

In view of the clinical importance of angiotensin-converting enzyme (ACE) as a major marker for cardiovascular diseases, we investigated insertion/deletion ( I/D ) polymorphism of the ACE gene in Koreans. Genotype frequencies were examined by polymerase chain reaction in 171 patients with coronary artery disease (CAD) and 120 healthy subjects. Allele frequencies of ACE polymorphism in Koreans were not significantly different between patient and control groups. In addition, association between ACE genotypes and the number of stenosed coronary arteries was not detected. ACE genotypes in the CAD group were not associated with body mass index and plasma lipid levels. Thus, our results suggest that, at least in Koreans, I/D polymorphism of the gene is unlikely to be a useful marker for CAD subjects. However, the I allele frequency of Koreans (0.58) was higher than that of Caucasian populations (0.47) but lower than that of Samoan (0.91) and Yanomami (0.85) populations. Here, we discuss the clinical and ethnic importance of ACE polymorphism.     

Short arm of chromosome 11 and sporadic Alzheimer's disease: catalase and cathepsin D gene polymorphisms

Catalase (CAT) -262 C/T promoter (rs1001179), cathepsin D (CTSD) exon 2 (rs17571), and apolipoprotein E (APOE) gene polymorphisms were studied in 242 patients with sporadic Alzheimer's disease (AD) and 421 unrelated age-, sex-, and ethnically matched control subjects from Apulia (Southern Italy). No statistically significant differences in CAT rs1001179 and CTSD rs17571 genotype and allele distribution between AD cases and healthy controls were observed for the whole AD sample, and when AD group was categorized by age at onset in early- and late-onset AD subsets. Furthermore, we did not find any statistically significant differences in rates between CAT rs1001179 and CTSD rs17571 genotypes and AD controlling for APOE e4 allele status. Our data, at present, do not support a role of two gene polymorphisms of the short arm of the chromosome 11, the CAT rs1001179 and CTSD rs17571, as a possible susceptibility factors for sporadic AD.     

Lack of an association between interleukin-6 gene promoter polymorphisms (-174G/C, -572G/C) and ischemic heart disease and/or ischemic stroke: a meta-analysis

The association between single-nucleotide polymorphisms -174G/C (rs1800795) and -572G/C (rs1800796) in the interleukin-6 (IL-6) gene promoter region and ischemic heart disease (IHD)/ischemic stroke (IS) remains controversial and ambiguous. In this study, we performed a more precise estimation of the relationship by a meta-analysis based on currently available evidence from literature. To assess the effect of IL-6 polymorphisms (-174G/C, -572G/C) on IHD/IS susceptibility, a meta-analysis of 30 available studies was performed through May 2010. Summary odds ratios and their 95% confidence intervals for IL-6 polymorphisms and IHD/IS were estimated using fixed- and random-effects models when appropriate. Heterogeneity and publication bias were evaluated. When available studies were pooled into the meta-analysis, there was no significant association between IL-6 polymorphisms (-174G/C, -572G/C) and IHD/IS in any comparison model (CC vs GG, GC vs GG, dominant, and recessive models). Subgroup analyses results were consistent with the main analyses by ethnicity, ischemic types, quality score, and genotyping methods. Ethnicity (European studies) and quality score (low-quality studies) might be important sources of heterogeneity for -174G/C. However, metaregression analysis did not reveal that the foregoing characteristics could explain the τ(2) in any comparison model. We could not identify the sources of heterogeneity for -572G/C. The present meta-analysis suggests that IL-6 promoter polymorphisms (-174G/C, -572G/C) were unlikely to be associated with risk of IHD and/or IS.     

Cardiovascular risk factors in people with different genotypes in the insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme (ACE)

The deletion (D) allele of an insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme (ACE) has been reported to be an independent risk factor for myocardial infarction (MI), particularly in people lacking traditional risk factors. Furthermore, a borderline association between Lp(a) lipoprotein level and the I/D polymorphism at the ACE locus was reported in one study. We have searched for possible "level gene" or "variability gene" effects of ACE genes on Lp(a) lipoprotein, total cholesterol (TC), high density lipoprotein (HDL) cholesterol (HDLC), low density lipoprotein (LDL) cholesterol (LDLC), triglycerides (TG), apolipoprotein B (apoB), apolipoprotein A-I (apoA-I), and body mass index (BMI). None of these variables differed significantly between genotypes in the I/D polymorphism in any of three population samples. A single population sample created by combining the three series, exhibited an insignificant trend towards individuals carrying the D-allele having a higher level of Lp(a) lipoprotein than those lacking it, and DD homozygotes had a significantly higher Lp(a) lipoprotein level than the combined group of ID/II individuals (p = 0.03). These results may indicate that the D-allele of the I/D polymorphism at the ACE locus could influence the level of Lp(a) lipoprotein.     

Influence of interleukin-1 beta gene polymorphisms on the risk of myocardial infarction and ischemic stroke at young age in vivo and in vitro

In this study, by using vivo and vitro model, we assessed whether interleukin (IL)-1beta gene polymorphisms influence on the risk of myocardial infarction and ischemic stroke at young age. 147 patients (age < 45 years) with a first episode of MI and 56 patients (age < 45 years) with first-ever cerebral ischemia consecutively were admitted to this study from the Department of Chinese PLA General Hospital. Meanwhile, 91 normal volunteers without MI or stroke were deeded as control group and greed to give blood samples for DNA analysis and biochemical measurements by written informed consent. IL-1β-511 wild type (WT, CC) and SNP (TT) were established and transfected into Rat myocardial H9c2 cell and Mouse brain endothelial bEND.3 cells. In Young Age MI or stroke patients, the IL-1β levels of patients with 511CC are higher than that of patients with 511TT. In our study, NF-κB miRNA, iNOS activity, NF-κB, iNOS and Bax protein expressions of MI-induced H9c2 cell or stroke-induced bEND.3 cells in IL-1β-511TT group were lower than those of IL-1β-511CC. Additionally, the protein expression of MMP-2 of MI-induced H9c2 cell or stroke-induced bEND.3 cells in IL-1β-511TT group were higher than that of IL-1β 511CC group. In conclusion, our data indicate that IL-1β-511TT/CC influence on the risk of myocardial infarction and ischemic stroke at young age through NF-κB, iNOS, MMP-2 and Bax.     

原发性高血压患者中医辨证分型与ACE基因I/D多态性的相关性研究

目的:探讨原发性高血压不同中医证型与血管紧张素转换酶(ACE)基因多态性分布的相关性。方法:选择原发性高血压患者120例,中医辨证分型为肝火旺盛型、阴虚阳亢型、阴阳两虚型、痰湿壅盛型,选取正常对照组30例,并采用PCR方法检测ACE基因的多态性。结果:ACE基因DD型在阴虚阳亢组与正常对照组之间显著差异(P0.05),而ACE基因Ⅱ、ID型及等位基因与正常对照组比较无显著差异(P0.05)。各证型组之间两两比较ACE基因型和等位基因之间都无显著差异(P0.05)。结论:原发性高血压阴虚阳亢型可能与ACE基因DD型有关联。