优秀力量运动员ACE基因I/D多态性与运动能力的关联研究

为探讨血管紧张素Ⅰ转化酶 (ACE)基因I/D多态性与运动能力的关系 ,并力求寻找相关的遗传标志 ,应用PCR -AFLP(扩增片段长度多态性 )方法检测了优秀力量运动员和普通人群的ACE基因型。结果显示 ,优秀运动员组ACE等位基因频率D =0 375 ,I=0 6 2 5 ,I等位基因频率高于普通人群组 (I=0 45 0 ) ,差异有显著性 (P <0 0 5 )。提示ACE基因I/D多态性可能与运动能力相关联 ,考虑将其作为遗传标志用于运动员科学选材。     

运动员血管紧张素转换酶基因插入或缺失多态性研究

为了解运动员血管紧张素转换酶(ACE)基因插入或缺失(I/D)多态性情况,探讨ACE基因多态性与有氧耐力的可能关系,本研究采用聚合酶链反应(PCR)技术检测40 例运动员(分为耐力组和力量组,每组20名)和20例健康对照者的ACE基因多态性,结果显示,位于ACE基因16内含子的I/D多态性经PCR扩增后呈三种基因型:纯合子插入型(II)、纯合子缺失型(DD)和杂合子插入或缺失型(ID).耐力运动员组II 基因型和I等位基因频率显著高于健康对照组和力量运动员组.结果提示ACE基因可能在运动员的有氧耐力中起重要作用.     

中国优秀马拉松运动员ACE基因I/D多态性频率分布特征

通过分析中国马拉松运动员ACE基因I/D多态频率分布特征,探讨其作为杰出耐力基因标记的可行性。选择我国马拉松健将、国际健将级运动员26名作为马拉松运动员组,汉族学生216名作为对照组。对两组受试者进行ACE基因I/D多态性测定。结果显示:我国马拉松运动员组的等位基因频率和基因型频率与对照组比较无显著差异,其中15名国际健将中无一DD型纯合子,提示我国优秀马拉松运动员的纯合子DD型频率低下是其ACE基因多态频率分布的主要特征。     

上海地区汉族优秀游泳运动员mtDNA高变区Ⅰ单核苷酸多态性研究

目的探讨上海地区汉族优秀游泳运动员mtDNA高变区ⅠSNPs的分布特点,并与上海地区汉族普通人进行比较研究。方法分别以89名上海籍汉族优秀游泳运动员和71名普通人为研究对象,采用PCR产物纯化后直接测序的方法,应用DNASTAR6.10版序列分析软件对不同人群的序列多态性进行分析,并与剑桥序列进行比对,确定SNPs的位点、类型及频率。结果(1)游泳运动员和普通人mtDNA高变区ⅠSNPs分布频率高于10%的位点分别为15个和13个,大于20%位点分别有6个和7个,其它均为常见SNPs;其中位点C16168A为普通人所独有;(2)游泳运动员位点C16167A频率显著高于普通人(P<0.05~0.001);(3)游泳运动员独有插入位点(I-C16188),其频率为11.2%,同时,该位点健将和一级运动员的频率均大于10%;(4)上海地区汉族游泳运动员、我国优秀皮划艇运动员以及中国不同地区汉族人与亚洲人mtDNA的多态性无明显差异(P>0.05),但与欧美和非洲人群均存在明显差异(P<0.05~0.001)。提示(1)位点C16167A可能是上海地区汉族游泳运动员运动能力相关的基因标记,但仍需深入进行与运动能力表型关联的研究;(2)插入位点(I-C16188)可能成为新的标记上海汉族游泳运动员运动能力的SNPs位点;(3)不同种族间mtDNA高变区Ⅰ的多态性存在差异,从而相关的基因标记也可能不同。     

飞行员血管紧张素转换酶基因插入/缺失多态性及其血清水平的研究

目的了解飞行员血管紧张素转换酶(ACE)基因插入/缺失（I/D）多态性及其血清水平,探讨ACE基因多态性与飞行员耐力可能的关系。方法飞行员118例,健康对照者96例,用聚合酶链反应（PCR）扩增技术检测ACE基因I/D多态性,用比色法测定血清ACE水平。结果位于ACE基因第16内含子的I/D多态性经PCR扩增后呈三种基因型纯合子插入型（II）、纯合子缺失型（DD）和杂合子插入/缺失型（I/D）。飞行员组II基因型（44.07%）和Ⅰ等位基因频率（0.65）显著高于健康对照组(分别为31.25%和0.52)。ACE基因多态性与血清ACE水平明显相关(DD>ID,DD>II)。结论ACEⅠ基因有可能在飞行员的飞行耐力中起重要作用。     

上海地区汉族优秀游泳运动员mtDNA高变区Ⅰ序列多态性分析

目的探讨上海地区汉族不同水平优秀游泳运动员mtDNA高变区Ⅰ序列多态性分布特点.方法分别以89名上海籍汉族优秀游泳运动员和71名上海籍普通人为研究对象,采用PCR产物纯化后直接测序的方法,应用DNASTAR 6.10版序列分析软件对不同人群的序列多态性进行分析,并与剑桥序列进行比对,确定多态位点、类型及频率.结果(1)普通人mtDNA高变区Ⅰ多态位点、碱基变异数及变异率高于运动员,但无明显差异(P＞0.05);(2)普通人和不同等级运动员的多态位点和碱基变异数及变异率存在明显差异(P＜0.05),变化趋势为普通人＞总体运动员＞一级＞健将;运动员和普通人独有位点在本群体中的频率分布都很低(低于5%);(3)游泳运动员和普通人mtDNA高变区Ⅰ序列多态性主要表现为碱基转换、颠换、插入和缺失4种类型;(4)普通人碱基转换发生频率显著高于健将和一级运动员(P＜0.05),颠换发生频率明显低于运动员(P＜0.05).结论上海地区汉族优秀游泳运动员mtDNA高变区Ⅰ序列的突变率明显低于上海汉族普通人,表现出较为明显的人群特征;游泳运动员独有的多态位点数高于普通人,但在本群体中的频率分布均低于总体多态的5%;游泳运动员和普通人在碱基替换、插入和缺失类型与频率方面存在一定差异,同时与我国其它耐力性项目的优秀运动员也存在一定差异.     

血管紧张素转换酶基因插入或缺失多态性与飞行员原发性高血压的相关性

目的探讨血管紧张素转换酶(ACE)基因插入或缺失(I/D)多态性和飞行员原发性高血压的相关性,为飞行员原发性高血压的预防提供依据。方法用聚合酶链反应(PCR)扩增检测48例飞行员原发性高血压患者和50例飞行员健康对照者的ACE基因I/D多态性。结果飞行员高血压组ACE DD基因型(25%)和D等位基因频率(0.47)显著高于健康对照组(分别为8%和0.30)。结论 ACE DD基因型和D等位基因与飞行员原发性高血压病相关。     

血管紧张素转化酶基因多态性与Ⅱ型糖尿病肾病

目的 探讨血管紧张素转化酶（ACE）基因插入／缺失多态性与Ⅱ型糖尿病（NIDDM）肾病的关系。方法 聚合酶链反应。结果 无肾病的NIDDM患中,ACE基因型频率与正常人比较,I／I基因型和I／D＋D／D基因型频率分布差异有显意义（P＜0．05）;有肾病的NIDDM患中,ACE基因型频率与正常人比较,D／D基因型和I／D＋I／I基因型频率分布差异有显意义（P＜0．05）。结论 I／I基因型是NIDDM肾病患的保护性基因;而D／D基因型是NIDDM肾病患的易感基因。     

ACE基因D/I多态性与动脉粥样硬化性肾病的关系探讨

目的　进一步探讨ACE基因D/I多态性在中国汉族老年人动脉粥样硬化性肾病中的意义。方法　对 47例动脉粥样硬化性肾病患者和 87例对照者ACE基因D/I多态性进行分析。结果　ACE基因缺失型 (DD)在动脉粥样硬化性肾病患者中的发生率明显高于对照组 (分别为 42 6 %与 2 4 1% ,P <0 .0 5 ) ,而ACE基因插入型 (II)与缺失 /插入型 (DI)的发生率与对照无明显差别 (P >0 .0 5 )。结论　ACE基因D/I多态性与动脉粥样硬化性肾病的发生有一定的联系 ,它可能是动脉粥样硬化性肾病发生的危险因子之一。     

PGC-1α基因多态性位点与优秀耐力运动员运动能力的关联性及其机制研究

目的:探讨过氧化物酶体增殖受体γ辅激活因子1α(PGC-1α)基因多态性位点与优秀耐力运动员运动能力的关联性及其作用机制。方法:应用Case-Control实验设计,分析42个单核苷酸多态性位点在优秀耐力运动员组(235人)和对照组(504人)中的分布特征。采用双荧光素酶报告基因方法分析阳性关联多态性位点的生物学功能。结果:(1)8个单核苷酸多态性位点的基因型/等位基因在优秀运动员组与对照组中的分布频率有显著差异。(2)rs6821591的TT基因型、rs12650562的TT基因型、rs12374310的CC基因型、rs4452416的GG基因型和rs4697425的AA基因型在运动员组的频率显著高于对照组,相应的相对荧光素酶活性也显著高于对照组,但rs4452416的GG基因型频率较低。结论:PGC-1α基因的rs6821591、rs12650562、rs12374310和rs4697425四个多态性位点与优秀耐力运动员运动能力状态关联,并且上调其基因转录。     

The distribution of I/D polymorphism in the ACE gene among Korean male elite athletes

AIM: The aim of this study was to examine the distribution of insertion/deletion (I/D) polymorphism in the ACE gene among Korean male elite athletes. METHODS: Participants of the study were 139 Korean male elite athletes (15 basketball, 41 soccer, 31 baseball, 12 gymnastics, 7 volleyball, 8 long-distance running, 8 judo, and 17 ice hockey players). The control group consisted of 163 non-athletes. Polymerase chain reaction method was used to investigate I/D polymorphism of the ACE gene. Collected data were analyzed by SPSS 11.0 program. RESULTS: The distribution of genotype and allele frequencies did not indicate the differences between the athletes and controls (P>0.05). However, the excess of II genotype and I allele was shown in long distance runners, although it was not statistically significant. CONCLUSION: It may be necessary to perform further studies using a homogeneous cohort of subjects from single sporting discipline, because the probable role of I allele in athletic performance has been hard to be detected by heterogeneous groups of diverse sporting disciplines.     

The ACE gene and human performance: 12 years on

Some 12 years ago, a polymorphism of the angiotensin I-converting enzyme (ACE) gene became the first genetic element shown to impact substantially on human physical performance. The renin-angiotensin system (RAS) exists not just as an endocrine regulator, but also within local tissue and cells, where it serves a variety of functions. Functional genetic polymorphic variants have been identified for most components of RAS, of which the best known and studied is a polymorphism of the ACE gene. The ACE insertion/deletion (I/D) polymorphism has been associated with improvements in performance and exercise duration in a variety of populations. The I allele has been consistently demonstrated to be associated with endurance-orientated events, notably, in triathlons. Meanwhile, the D allele is associated with strength- and power-orientated performance, and has been found in significant excess among elite swimmers. Exceptions to these associations do exist, and are discussed. In theory, associations with ACE genotype may be due to functional variants in nearby loci, and/or related genetic polymorphism such as the angiotensin receptor, growth hormone and bradykinin genes. Studies of growth hormone gene variants have not shown significant associations with performance in studies involving both triathletes and military recruits. The angiotensin type-1 receptor has two functional polymorphisms that have not been shown to be associated with performance, although studies of hypoxic ascent have yielded conflicting results. ACE genotype influences bradykinin levels, and a common gene variant in the bradykinin 2 receptor exists. The high kinin activity haplotye has been associated with increased endurance performance at an Olympic level, and similar results of metabolic efficiency have been demonstrated in triathletes. Whilst the ACE genotype is associated with overall performance ability, at a single organ level, the ACE genotype and related polymorphism have significant associations. In cardiac muscle, ACE genotype has associations with left ventricular mass changes in response to stimulus, in both the health and diseased states. The D allele is associated with an exaggerated response to training, and the I allele with the lowest cardiac growth response. In light of the I-allele association with endurance performance, it seems likely that other regulatory mechanisms exist. Similarly in skeletal muscle, the D allele is associated with greater strength gains in response to training, in both healthy individuals and chronic disease states. As in overall performance, those genetic polymorphisms related to the ACE genotype, such as the bradykinin 2 gene, also influence skeletal muscle strength. Finally, the ACE genotype may influence metabolic efficiency, and elite mountaineers have demonstrated an excess of I alleles and I/I genotype frequency in comparison to controls. Interestingly, this was not seen in amateur climbers. Corroboratory evidence exists among high-altitude settlements in both South America and India, where the I allele exists in greater frequency in those who migrated from the lowlands. Unfortunately, if the ACE genotype does influence metabolic efficiency, associations with peak maximal oxygen consumption have yet to be rigorously demonstrated. The ACE genotype is an important but single factor in the determinant of sporting phenotype. Much of the mechanisms underlying this remain unexplored despite 12 years of research.     

The ACE gene and endurance performance during the South African Ironman Triathlons

PURPOSE: Several studies have suggested that the insertion (I) variant rather than the deletion (D) variant of the human angiotensin-converting enzyme (ACE) gene is associated with elite endurance performance. The aim of this study was to determine whether the ID polymorphism is associated with the performance of the fastest finishers of the South African Ironman Triathlons. METHODS: A total of 447 Caucasian male triathletes of a variety of nationalities and athletic ability who completed either the 2000 or 2001 South African Ironman Triathlons and 199 Caucasian male control subjects were genotyped for the ACE ID polymorphism. RESULTS: There was a significantly higher frequency of the I allele in the fastest 100 South African-born finishers (103 I, 51.5% and 97 D, 48.5%) compared with the 166 South African-born control subjects (140 I, 42.2% and 192 D, 57.8%) (P = 0.036). There was also a significant linear trend for the allele distribution among the fastest 100 finishers (I allele = 51.5%), slowest 100 finishers (I allele = 47.5%), and control (I allele = 42.2%) South African-born subjects (P = 0.033). There was, however, no significant difference in the ACE genotype or allele frequencies when athletes born outside South Africa were analyzed. CONCLUSION: To our knowledge this is the first study that has examined the effect of an athlete's ACE genotype on their actual performance during an ultra-endurance race. The I allele of the ACE gene was associated with the endurance performance of the fastest 100 South African-born finishers in these triathlons.     

RAS genes influence exercise-induced left ventricular hypertrophy: an elite athletes study

PURPOSE: The association of ACE I/D polymorphism with changes in LV mass in response to physical training has been observed, but no association has been found with AT1R A1166C polymorphism. We investigated the ACE I/D, AT1R A1166C, and AT1R CA microsatellite polymorphisms genotype distribution in elite athletes and whether the presence of AT1R C1166 variant, in addition to ACE D allele affects the training-induced LV mass alterations in elite trained athletes. METHODS: The study population comprised 28 healthy players recruited from an Italian elite male soccer team and 155 healthy male subjects. LV mass, LV mass adjusted for body surface area, septal thickness, posterior wall, end-diastolic and end-systolic ventricular dimension, and ejection fraction were determined by echocardiography in pretrained period, at rest and 7 months later during the training. All subjects were genotyped for ACE I/D, AT1R A1166C, and CA microsatellite polymorphisms. RESULTS: Training induced an LV mass increase in all but six athletes. The percentage of athletes in whom an increase of LV mass was found after training was statistically different in relation to the ACE D allele: no increase was observed in three of 24 D allele carriers and in three of four II genotype players (Fisher's exact test, P = 0.02). As AT1R is concerned, no increase was observed in 4 of 15 C allele carriers and in 2 of 13 AA genotype athletes (Fisher's exact test, P > 0.05). The contemporary presence of ACE D and AT1R C allele did not affect the changes after training. No difference has been observed in the CA microsatellite marker allele frequencies between athletes and controls (P = 0.46). CONCLUSION: In this study, we provide the evidence that soccer play does not select athletes on genotype basis. Training-induced LV mass changes in male elite athletes are significantly associated with the presence of ACE D allele, but not of AT1R C allele.     

The angiotensin converting enzyme I/D polymorphism in long distance runners

AIM: There is an assumption that ACE I/D polymorphism represents one of the possible genetic factors that might be associated with sports excellence. Recent studies have identified an increased frequency of I allele in elite endurance athletes, long distance runners, rowers and mountaineers. The aim of this study was to test the hypothesis that the ACE I/D polymorphism is associated with enhanced endurance performance. METHODS: We examined this hypothesis by determining ACE I/D allele frequency in 215 marathon runners, 222 half-marathon runners and 18 inline skaters classified by performance (marathon competition results). ACE genotype and allele frequencies were compared with 252 healthy controls. RESULTS: ACE genotype frequency in the whole cohort did not differ from that in the sedentary controls (P < 0.56). However, there was an increase of the I/I genotype incidence amongst successful marathon runners scoring on places from 1st to 150th (P < 0.01). These findings were confirmed in the group of inline skaters, similarly demonstrating an increase of the I/I genotype (P < 0.01). There was no association found between half marathon runners and the ACE genotype (P < 0.59). CONCLUSIONS: An excess of the I allele in long distance runners confirms the association between the ACE I/D polymorphism and endurance sports performance.     

血管紧张素转换酶基因多态性与房颤心肌纤维化的相关性研究

目的：研究血管紧张素转换酶基因（ACE）插入／缺失多态性与心肌纤维化及心房纤颤的相关性，以寻找心房纤颤发病的分子机制。方法：选择50例房颤患者（房颤组）及43例非房颤者（对照组），用PCR方法检测两组ACE基因插入／缺失多态性；用ELISA法测定心肌纤维化的指标（Ⅰ型前胶原羧基端肽、Ⅲ型前胶原氨基端肽）．比较不同基因型、不同等位基因的分布及Ⅰ型前胶原羧基端肽（PIP）和Ⅲ型前胶原氨基端肽（PⅢP）的血清浓度。结果：房颤组与对照组ACEI／D多态性缺失纯合型（DD型）、杂合子（DⅠ型）、插入纯合型（Ⅱ型）基因型频率分别为34％、40％、26％和18．6％、41．9％、39．5％；房颤组与对照组D等位基因、Ⅰ等位基因分布频率为54％、46％和39．5％、60．5％；对不同基因型分布比较发现：D等位基因分布频率在房颤组中较对照组明显增大（P〈0．05）；房颤组PIP、PⅢP浓度明显高于对照组（P〈0．05）；在不同基因型之间PIP、PⅢP浓度比较中发现，DD基因型PIP、PⅢP浓度显著高于DⅠ型和Ⅱ型（P〈0．05）。结论：D等位基因可能是房颤的易患基因；房颤患者心肌纤维化指标PIP、PⅢP显著升高；ACEDD基因型可能是心肌纤维化及心脏重构的危险因素。     

Is there an association between ACE and CKMM polymorphisms and cycling performance status during 3-week races?

In this paper, we examine the association between polymorphisms of the angiotensin-converting enzyme (ACE) and muscle-specific creatine kinase (CKMM) genes, and the actual performance status observed in professional cyclists capable of completing a classic tour stage race such as the Giro d'Italia, Tour de France, or Vuelta a Espa?a. To accomplish this, we compared the frequencies of the ACE and CKMM genotypes/alleles in 50 top-level Spanish professional cyclists that have completed at least one of these events to 119 sedentary controls, and 27 elite (Olympic-class) Spanish runners. The genetic polymorphism at the CK-MM locus was detected with the NcoI restriction endonuclease. The results of our study showed that the proportion of the DD genotype was higher in cyclists (50.0 %) than in the other two groups (p<0.05), the proportion of the ID genotype was higher in controls (46.2 %) than in the other two groups (p<0.05), and the proportion of the II genotype was higher in runners (40.7 %) than in the other two groups (p<0.05). The proportion of the D allele was higher in both cyclists (65.0 %) and controls (57.6 %) than in runners (46.3 %) (p<0.001), whereas the proportion of the I allele was higher in runners than in the other two groups (p<0.001). No statistical differences were found for CKK-MM- NcoI. We conclude that in top-level professional cyclists capable of completing a classic 3-wk tour race, the frequency distribution of the D allele and the DD genotype seems to be higher than in other endurance athletes such as elite runners (in whom the I allele is especially frequent).