DIO基因多态性与有氧耐力的相关性研究

目的:研究碘代甲状腺氨酸脱碘酶(DIO)基因多态性与有氧耐力的相关性,寻找与有氧耐力表型相关的分子标记。方法:应用基质辅助激光解吸电离飞行时间质谱检测技术,对123名中国北方汉族优秀长跑运动员(EEA)与127名中国北方汉族普通大学生(CG)DIO1基因C785T位点及DIO2基因的Thr92Ala和Gly3Asp位点进行解析并分析比较,其中优秀运动员又根据运动等级和运动项目分为国际健将与健将组(43vs80),及5/10km和马拉松组(92vs31)。结果:在DIO1的C785T位点及DIO2的Thr92Ala位点,各组间基因型和等位基因频率均无显著性差异(P>0.05);在DIO2的Gly3Asp位点,三种基因型在CG组与国际健将组、CG组与马拉松组间的分布均差异显著(P<0.05),其中TT基因型在CG组中不表达,仅存在于EEA组,但频率很低。DIO2的Thr92Ala及Gly3Asp位点处于强连锁不平衡,CT单体型在男CG组与女CG组、男CG组与男EEA组间分布均差异显著(P<0.05),在男CG组与男健将组、男马拉松组间的分布也均差异显著(P<0.05),TC单体型则在女CG组与女国际健将组、女5000m和10000m组间的分布差异显著(P<0.05)。结论:DIO2基因Thr92Ala及Gly3Asp位点的CT单体型分布具有性别差异,是男子EEA有氧耐力素质的分子标记,可用于男子长跑健将级运动员及马拉松运动员的分子选材,TC单体型则是女子长跑国际健将运动员和5000m、10000m运动员有氧耐力素质的分子标记。     

Association between matrix metalloproteinase-3 polymorphism and anterior cruciate ligament ruptures

Anterior cruciate ligament (ACL) ruptures are considered to be the most severe joint injury in sports. However, the precise etiologies of ACL injuries are not fully understood. Recently, the gene encoding the matrix metalloproteinase-3 (MMP-3, stromelysin-1) was shown to be associated with anterior cruciate ligament ruptures. The 5A/6A polymorphism in the promoter of the MMP-3 gene affects the regulation of MMP-3 gene expression. We examined the association between polymorphism within -1612 of the MMP-3 gene and ACL rupture in an independent population. Eighty-six participants between 20 and 40 years of age with surgically diagnosed ACL ruptures and 100 healthy controls between 18 and 28 years of age without history of ligament or tendon injuries were recruited for the study. All participants were genotyped for the MMP-3 polymorphism (-1612 5A/6A). Statistical analyses of genotype frequencies between patients and healthy controls were performed by the chi-square test. A significant difference was found between ACL rupture subgroups in terms of genotype association (5A+ (5A/5A, 5A/6A): 37.5% in contact sports vs 20% in non-contact sports; P = 0.02). In allelic association, there were significant differences (6A: 81.2% in contact sports vs 89.1% in non-contact sports, 5A: 18.8% in contact sports vs 10.9% in non-contact sports, P = 0.01). The 5A+ genotype of MMP-3 was represented in ACL ruptures in contact sport participants. We propose that this sequence variant is a specific genetic element that should be included in a multifactorial model to understand the etiologies and risk factors for ACL rupture.     

Gene therapy and tissue engineering for sports medicine

Sports injuries usually involve tissues that display a limited capacity for healing. The treatment of sports injuries has improved over the past 10 to 20 years through sophisticated rehabilitation programs, novel operative techniques, and advances in the field of biomechanical research. Despite this considerable progress, no optimal solution has been found for treatment of various sports-related injuries, including muscle injuries, ligament and tendon ruptures, central meniscal tears, cartilage lesions, and delayed bone fracture healing. New biological approaches focus on the treatment of these injuries with growth factors to stimulate and hasten the healing process. Gene therapy using the transfer of defined genes encoding therapeutic proteins represents a promising way to efficiently deliver suitable growth factors into the injured tissue. Tissue engineering, which may eventually be combined with gene therapy, may potentially result in the creation of tissues or scaffolds for regeneration of tissue defects following trauma. In this article we will discuss why gene therapy and tissue engineering are becoming increasingly important in modern orthopaedic sports medicine practice. We then will review recent research achievements in the area of gene therapy and tissue engineering for sports-related injuries, and highlight the potential clinical applications of this technology in the treatment of patients with musculoskeletal problems following sports-related injuries.     

THE ASSOCIATION BETWEEN ACE GENE VARIATION AND AEROBIC CAPACITY IN WINTER ENDURANCE DISCIPLINES

The aim of the study was to examine the possible relationship between I/D polymorphism of ACE gene and selected indices of aerobic capacity among male and female athletes practising winter endurance sports. Sixty-six well-trained athletes (female n = 26, male n = 40), aged 18.4 ± 2.8 years, representing winter endurance sports (cross-country skiing, n = 48; biathlon, n = 8; Nordic combined, n = 10) participated in the study. Genotyping for ACE I/D polymorphism was performed using polymerase chain reaction. Maximal oxygen consumption (VO₂max), maximal running velocity (V_max) and running velocity at anaerobic threshold (V_AT4) were determined in an incremental test to volitional exhaustion on a motorized treadmill. The ACE genotype had no significant effect on absolute VO₂max, relative VO₂max (divided by body mass or fat free body mass), V_AT4 or V_max. No interaction effect of gender x ACE genotype was found for each of the examined aerobic capacity indices. ACE gene variation was not found to be a determinant of aerobic capacity in either female or male Polish, well-trained endurance athletes participating in winter sports.     

家长因素对幼儿参与健身类课程的影响

以上海市28所幼儿园的204名幼儿为研究对象,从家长的视角探寻影响幼儿参与健身类课程的因素,运用文献资料法、问卷调查法和数理统计等方法对影响幼儿参与健身类课程的家长因素进行研究,寻求促进幼儿参与健身类课程的方法与措施,为帮助更多的幼儿运动起来,不再依赖电脑、电视和电子游戏等,从而为促使幼儿更加健康的发展奠定一定的理论基础.结果表明:(1)父母的健身经历及父亲受教育的程度能较显著地影响幼儿喜欢运动的程度.(2)父母对幼儿参与运动的消极观念会严重地影响幼儿参与运动的积极性.(3)母亲参与健身的经历对幼儿参加健身类课程的意向具有较显著性的影响,有健身经历的母亲越会让幼儿参与健身类课程.(4)父母受教育的程度对幼儿参加健身类课程的意向具有较显著的影响,父母的学历越高,幼儿参加健身类课程的意向越明显.     

中药治疗运动性贫血的研究进展

传统中医药在运动医学领域中运用越来越广泛,利用中医药防治运动性贫血的报道也有不少。本文将近年来运用中药治疗运动性贫血的文献进行整理,就其作用机制进行了综述,并对今后的发展方向提出了自己的观点。     

Sports genetics: the PPARA gene and athletes’ high ability in endurance sports. A systematic review and meta-analysis

A meta-analysis was performed with the aim of re-evaluating the role of the peroxisome proliferator activated receptor alpha (PPARA) gene intron 7 G/C polymorphism (rs4253778) in athletes’ high ability in endurance sports. Design: A meta-analysis of case control studies assessing the association between the G/C polymorphisms of the PPARA gene and endurance sports was conducted. The Cochrane Review Manager software was used to compare the genotype and allele frequencies between endurance athletes and controls to determine whether a genetic variant is more common in athletes than in the general population. Five studies, encompassing 760 endurance athletes and 1792 controls, fulfilled our inclusion criteria. The pooled odds ratio (and confidence intervals, CIs) for the G allele compared to the C allele was 1.65 (95% CI 1.39-1.96). The pooled OR for the GG genotype compared to the GC genotype was 1.79 (95% CI 1.44-2.22), and for the GG genotype compared to the CC genotype 2.37 (95% CI 1.40-3.99). There was no evidence of heterogeneity (I² =0%) or of publication bias. Athletes with high ability in endurance sports had a higher frequency of the GG genotype and G allele.     

GENE DOPING IN SPORT – PERSPECTIVES AND RISKS

In the past few years considerable progress regarding the knowledge of the human genome map has been achieved. As a result, attempts to use gene therapy in patients’ management are more and more often undertaken. The aim of gene therapy is to replace defective genes in vivo and/or to promote the long-term endogenous synthesis of deficient protein. In vitro studies improve the production of human recombinant proteins, such as insulin (INS), growth hormone (GH), insulin-like growth factor-1 (IGF-1) and erythropoietin (EPO), which could have therapeutic application. Unfortunately, genetic methods developed for therapeutic purposes are increasingly being used in competitive sports. Some new substances (e.g., antibodies against myostatin or myostatin blockers) might be used in gene doping in athletes. The use of these substances may cause an increase of body weight and muscle mass and a significant improvement of muscle strength. Although it is proven that uncontrolled manipulation of genetic material and/or the introduction of recombinant proteins may be associated with health risks, athletes are increasingly turning to banned gene doping. At the same time, anti-doping research is undertaken in many laboratories around the world to try to develop and refine ever newer techniques for gene doping detection in sport. Thanks to the World Anti-Doping Agency (WADA) and other sports organizations there is a hope for real protection of athletes from adverse health effects of gene doping, which at the same time gives a chance to sustain the idea of fair play in sport.     

Biomechanics of knee ligaments: injury, healing, and repair

Knee ligament injuries are common, particularly in sports and sports related activities. Rupture of these ligaments upsets the balance between knee mobility and stability, resulting in abnormal knee kinematics and damage to other tissues in and around the joint that lead to morbidity and pain. During the past three decades, significant advances have been made in characterizing the biomechanical and biochemical properties of knee ligaments as an individual component as well as their contribution to joint function. Further, significant knowledge on the healing process and replacement of ligaments after rupture have helped to evaluate the effectiveness of various treatment procedures. This review paper provides an overview of the current biological and biomechanical knowledge on normal knee ligaments, as well as ligament healing and reconstruction following injury. Further, it deals with new and exciting functional tissue engineering approaches (ex. growth factors, gene transfer and gene therapy, cell therapy, mechanical factors, and the use of scaffolding materials) aimed at improving the healing of ligaments as well as the interface between a replacement graft and bone. In addition, it explores the anatomical, biological and functional perspectives of current reconstruction procedures. Through the utilization of robotics technology and computational modeling, there is a better understanding of the kinematics of the knee and the in situ forces in knee ligaments and replacement grafts. The research summarized here is multidisciplinary and cutting edge that will ultimately help improve the treatment of ligament injuries. The material presented should serve as an inspiration to future investigators.     

Genetic and social factors in the development of aggression

The effect of the variants of the serotonin transporter gene (5-HTT) on aggressiveness was studied in male and female control subjects and athletes. Sports were found to generally decrease aggressiveness; this was true both for women doing nonaggressive sports and for men doing combat sports. The control group of men was characterized by higher indices of aggressiveness (physical and verbal aggression, negativism, and suspiciousness) than women were. Women, irrespective of age and whether they participated in sports, exhibited a relationship between 5-HTT gene variants and the displaced aggressiveness and negativism scales: the SS genotype was associated with a higher displaced aggressiveness and a low negativism. Men exhibited a different relationship. The general aggressiveness index was significantly higher in carriers of the LL genotype than in carriers of the SS genotype, whereas these subjects did not differ significantly in the parameters measured by individual scales. In men, the cerebral processes that are presumed to underlie aggressiveness were found to be related to 5-HTT gene variants. The HP component of the cerebral potential responsible for automatic detection of differences was increased and the P3a component responsible for involuntary attention and cognitive control. This suggests that carriers of the SS genotype use more cognitive resources to process information. This may be because the stimulus itself seems to be more “complex,” which results in the involvement of additional resources of the frontal cortex. It may also be assumed that carriers of the SS genotype tend to analyze the incoming information more deeply. This, more “serious” analysis of external information may underlie their refraining from impulsive behavior, which is often aggressive.     

Acute injuries in soccer,ice hockey,volleyball, basketball,judo, and karate: analysis of national registry data.

OBJECTIVE--To determine the acute injury profile in each of six sports and compare the injury rates between the sports. DESIGN--Analysis of national sports injury insurance registry data. SETTING--Finland during 1987-91. SUBJECTS--621,691 person years of exposure among participants in soccer, ice hockey, volleyball, basketball, judo, or karate. MAIN OUTCOME MEASURES--Acute sports injuries requiring medical treatment and reported to the insurance company on structured forms by the patients and their doctors. RESULTS--54,186 sports injuries were recorded. Injury rates were low in athletes aged under 15, while 20-24 year olds had the highest rates. Differences in injury rates between the sports were minor in this adult age group. Overall injury rates were higher in sports entailing more frequent and powerful body contact. Each sport had a specific injury profile. Fractures and dental injuries were most common in ice hockey and karate and least frequent in volleyball. Knee injuries were the most common cause of permanent disability. CONCLUSIONS--Based on the defined injury profiles in the different sports it is recommended that sports specific preventive measures should be employed to decrease the number of violent contacts between athletes, including improved game rules supported by careful refereeing. To prevent dental injuries the wearing of mouth guards should be encouraged, especially in ice hockey, karate, and basketball.     

Polymorphism of the vascular endothelial growth factor gene (VEGF) and aerobic performance in athletes

The subject of this study is the frequency distribution of alleles of the vascular endothelial growth factor gene (VEGF; the G-634C polymorphism) in athletes (n = 670) and in a control group (n = 1073) and the relationships of genotypes with aerobic performance in rowers (n = 90). Genetic typing was performed using the analysis of restriction fragment length polymorphism. The frequency of the VEGF C allele in the group of endurance athletes (n = 294) was significantly higher than in the control group and increased together with increasing sports qualification. In addition, a correlation of the VEGF C allele with a high aerobic performance of athletes (according to data on the maximal power and maximal oxygen consumption) and with a substantial contribution to the energy supply of aerobic metabolism (according to the values of maximal lactate content) has been found. It is inferred that the G-634C polymorphism of the VEGF gene is associated with physical performance of athletes and plays a key role in sports selection.     

A Sex Difference in the Predisposition for Physical Competition: Males Play Sports Much More than Females Even in the Contemporary U.S

Much evidence indicates that men experienced an evolutionary history of physical competition, both one-on-one and in coalitions. We thus hypothesized that, compared to girls and women, boys and men will possess a greater motivational predisposition to be interested in sports, especially team sports. According to most scholars, advocacy groups, and the United States courts, however, this hypothesis is challenged by modest sex differences in organized school sports participation in the contemporary U.S., where females comprise 42% of high school participants and 43% of intercollegiate participants. We conducted three studies to test whether organized school sports participation data underestimate the actual sex difference in sports participation. Study 1 analyzed the American Time Use Survey, which interviewed 112,000 individuals regarding their activities during one day. Females accounted for 51% of exercise (i.e., non-competitive) participations, 24% of total sports participations, and 20% of team sports participations. These sex differences were similar for older and younger age groups. Study 2 was based on systematic observations of sports and exercise at 41 public parks in four states. Females accounted for 37% of exercise participations, 19% of individual sports participations, and 10% of team sports participations. Study 3 involved surveying colleges and universities about intramural sports, which primarily consist of undergraduate participation in team sports. Across 34 institutions, females accounted for 26% of registrations. Nine institutions provided historical data, and these did not indicate that the sex difference is diminishing. Therefore, although efforts to ensure more equitable access to sports in the U.S. (i.e., Title IX) have produced many benefits, patterns of sports participation do not challenge the hypothesis of a large sex difference in interest and participation in physical competition.     

The role of orthopaedic surgery in sports medicine.

Orthopaedic surgery must play a significant role in the development of sports medicine as a viable academic discipline. Potential areas in which orthopaedic surgery can specifically contribute to such an evolution are discussed. Particular areas include skeletal development, the role of athletics on skeletal growth and trauma response, the mechanics of specific sports and the predisposition of specific sports to certain injury patterns, the role of muscle physiology and muscle stimulation in rehabilitation, and differing responses of the male and female skeletal system. Each of these areas is discussed in detail.     

The dimensions of sports medicine

The history of sports medicine is reviewed in terms of European, United States and Canadian traditions. An orientation towards treatment, particularly the treatment of injuries in elite athletes, is noted. Encouragement is found in the trend to discussion between the several Canadian groups interested in sports medicine. It is suggested that in the leisured society of the future, sports medicine will form an increasing part of family practice. It is to be hoped that emphasis will be placed on a broad-based approach to prevention of accidents and disease, coupled with the effective promotion of positive health measures, particularly increased physical activity.     

Metabolism and excretion of anabolic steroids in doping control--new steroids and new insights

The use of anabolic steroids in sports is prohibited by the World Anti-Doping Agency. Until the 1990s, anabolic steroids were solely manufactured by pharmaceutical companies, albeit sometimes on demand from national sports agencies as part of their doping program. Recently the list of prohibited anabolic steroids in sports has grown due to the addition of numerous steroids that have been introduced on the market by non-pharmaceutical companies. Moreover, several designer steroids, specifically developed to circumvent doping control, have also been detected. Because anabolic steroids are most often intensively subjected to phase I metabolism and seldom excreted unchanged, excretion studies need to be performed in order to detect their misuse.

This review attempts to summarise the results of excretion studies of recent additions to the list of prohibited steroids in sports. Additionally an update and insight on new aspects for “older” steroids with respect to doping control is given.     

Retrospective case evaluation of gender differences in sports injuries in a Japanese sports medicine clinic

Background: Although both gender- and sports-specific injuries exist among athletes, gender differences in the types of injuries caused by sports activities, except for anterior cruciate ligament (ACL) injury and anterior knee pain, are not well established.Objective: An observational study with a retrospective case-series design was conducted to investigate gender-specific differences in the types of injuries sustained while engaging in sports activities common to both males and females.Methods: We analyzed injuries sustained during sports activities including basketball, volleyball, tennis, skiing, track and field, and swimming, using data on age, sex, sports activities, activity levels, and sports injuries that had been computerized at our sports medicine (orthopedics) clinic. Inclusion criteria were sports activities that had a record of >100 injuries in total and athletes aged <50 years who were engaging in only 1 sports activity. We determined the absolute number of patients in each category and their percentage (proportion) of our cohort. The proportions of common injuries caused by sports activities were investigated, and gender-specific differences in the types of common injuries caused by sports activities were clarified. The Fisher exact test was used to determine the significance (P < 0.01) of the gender-specific differences in the types of sports injuries.Results: According to our database, during the 14-year period between October 1992 and December 2006, a total of 2989 athletes (1624 males and 1365 females) aged <50 years who engaged in 1 of the 6 sports activities described consulted our sports medicine clinic. The most common sports injuries were ACL injury (14.3%) and knee pain (13.7%), followed by ankle sprain (9.4%), lumbar disc disease (7.0%), meniscus injury (5.1%), stress fracture (2.9%), low back pain (2.5%), patellar tendinitis (2.1%), injury of the medial collateral ligament of the knee (2.0%), lumbar spondylolysis (1.7%), and muscle strain (1.5%). Among these 11 types of sports injuries, a significantly higher proportion of females who engaged in basketball (24.4% vs 10.5%), volleyball (20.5% vs 4.5%), or skiing (41.4% vs 26.5%) presented with an ACL injury, compared with their male counterparts (all, P < 0.001). There was also a significantly higher proportion of females than of males among the track and field athletes who presented with stress fractures (18.7% vs 3.9%; P < 0.001).Conclusion: The findings of this retrospective study suggest that there are gender-specific differences in the types of injuries sustained during sports activities.     

运动能力相关基因的先天遗传与后天转移

对人体生理特性的研究结果显示,部分运动相关基因如α-肌动蛋白-3、血管紧张素I转换酶、Ⅱ型活化素受体B的基因多态性会明显影响运动员的运动天赋和体能。建立优秀运动员基因库,发现和鉴定可影响运动能力的基因变异体,使得在儿童中开展DNA测试,挑选适合某种特殊体育项目的运动天才和优化训练方法具有一定现实操作意义。另一方面,随着滥用基因技术以提高运动能力的可能性不断提高,部分基因有可能作为基因兴奋剂,通过基因转移的方法导入人体,其所涉及的伦理问题、对人类健康及社会的潜在危害等,已经引起了来自自然科学和社会科学不同领域的广泛关注。     

运动对骨骼肌基因表达的表观遗传调控作用

DNA甲基化、组蛋白修饰和miRNA表达调控是表观遗传调控的3种重要方式,其在基因表达调控中发挥着关键作用。适当运动有益于身心健康。骨骼肌作为运动的主体组织,运动可以提高其代谢能力,改善其线粒体生物学功能,调控肌纤维类型转化,增加骨骼肌力量。近年来越来越多的研究表明,表观遗传调控在机体适应运动过程中发挥着重要作用,DNA甲基化、组蛋白修饰和miRNA表达调控等表观遗传调控方式通过调控骨骼肌基因表达来改变骨骼肌代谢能力、线粒体生物学功能和肌纤维类型,从而适应运动变化。本文对近年来运动对骨骼肌基因DNA甲基化、组蛋白修饰和相应miRNA表达调控等3种表观遗传调控方式的研究现状进行了综述,以期为进一步研究运动改善机体机能和健康提供参考。