Athletic Phenotype Research Articles

Investigation of the Putative Functional Relevance of the IL-6 3’UTR Genetic Variants with Athletic Phenotype in Turkish Triathletes

Background/aim: Previous research suggests that genetic variants in the IL-6 gene contribute to sport-related traits and athletic performance. We aimed to identify sequence variants in the IL-6 gene region comprising the 3' untranslated region (UTR) in the Turkish triathletes and sedentary individuals and assessed their putative roles in tendency to athletic phenotype. Materials and methods: Sequence variants were identified in the Turkish triathletes (n=47) and sedentary individuals (n=46) by Sanger sequencing. Allele/genotype frequencies and linkage disequilibrium (LD) patterns were calculated by the Haploview program. The functional significance of the detected variants was analyzed using in-silico prediction tools. Results: Four single nucleotide variants (rs13306435, rs747302620, rs2069849, rs13306436) were detected in the total sample by sequencing the target region. Notably, rs13306436-3'UTR/IL-6 was only seen in the triathletes, while the exonic rs747302620 was observed in only sedentary group. Also, rs13306436G>A causes loss/gain sites for binding multiple miRNAs that may be associated with athletic performance. Conclusion: Our findings indicate that the 3'UTR/IL-6 may have functional relevance in determining sports talent. Future comprehensive studies focusing on the IL-6 gene in athletes may pave the way for not only determining the athletic status of the individuals but also have implications for translational medicine.

Association of body shape phenotypes and body fat distribution indexes with inflammatory biomarkers in the European Prospective Investigation into Cancer and Nutrition (EPIC) and UK Biobank

BackgroundThe allometric body shape index (ABSI) and hip index (HI), as well as multi-trait body shape phenotypes, have not yet been compared in their associations with inflammatory markers. The aim of this study was to examine the relationship between novel and traditional anthropometric indexes with inflammation using data from the European Prospective Investigation into Cancer and Nutrition (EPIC) and UK Biobank cohorts.MethodsParticipants from EPIC (n = 17,943, 69.1% women) and UK Biobank (n = 426,223, 53.2% women) with data on anthropometric indexes and C-reactive protein (CRP) were included in this cross-sectional analysis. A subset of women in EPIC also had at least one measurement for interleukins, tumour necrosis factor alpha, interferon gamma, leptin, and adiponectin. Four distinct body shape phenotypes were derived by a principal component (PC) analysis on height, weight, body mass index (BMI), waist (WC) and hip circumferences (HC), and waist-to-hip ratio (WHR). PC1 described overall adiposity, PC2 tall with low WHR, PC3 tall and centrally obese, and PC4 high BMI and weight with low WC and HC, suggesting an athletic phenotype. ABSI, HI, waist-to-height ratio and waist-to-hip index (WHI) were also calculated. Linear regression models were carried out separately in EPIC and UK Biobank stratified by sex and adjusted for age, smoking status, education, and physical activity. Results were additionally combined in a random-effects meta-analysis.ResultsTraditional anthropometric indexes, particularly BMI, WC, and weight were positively associated with CRP levels, in men and women. Body shape phenotypes also showed distinct associations with CRP. Specifically, PC2 showed inverse associations with CRP in EPIC and UK Biobank in both sexes, similarly to height. PC3 was inversely associated with CRP among women, whereas positive associations were observed among men.ConclusionsSpecific indexes of body size and body fat distribution showed differential associations with inflammation in adults. Notably, our results suggest that in women, height may mitigate the impact of a higher WC and HC on inflammation. This suggests that subtypes of adiposity exhibit substantial variation in their inflammatory potential, which may have implications for inflammation-related chronic diseases.

First transcriptomic insight into the working muscles of racing pigeons during a competition flight

BackgroundThe currently known homing pigeon is a result of a sharp one-sided selection for flight characteristics focused on speed, endurance, and spatial orientation. This has led to extremely well-adapted athletic phenotypes in racing birds.MethodsHere, we identify genes and pathways contributing to exercise adaptation in sport pigeons by applying next-generation transcriptome sequencing of m.pectoralis muscle samples, collected before and after a 300 km competition flight.ResultsThe analysis of differentially expressed genes pictured the central role of pathways involved in fuel selection and muscle maintenance during flight, with a set of genes, in which variations may therefore be exploited for genetic improvement of the racing pigeon population towards specific categories of competition flights.ConclusionsThe presented results are a background to understanding the genetic processes in the muscles of birds during flight and also are the starting point of further selection of genetic markers associated with racing performance in carrier pigeons.

Prevalence of Rare Genetic Variants in Cardiomyopathy-associated Genes and Association With Cardiac Phenotype in Endurance Athletes

Prevalence of Rare Genetic Variants in Cardiomyopathy-associated Genes and Association With Cardiac Phenotype in Endurance Athletes

Disease progression in exercise-induced compared to desmosomal arrhythmogenic cardiomyopathy - a longitudinal cohort study

Abstract Funding Acknowledgements Type of funding sources: Public hospital(s). Main funding source(s): Oslo University Hospital, Procardio Center for Innovation Introduction Arrhythmogenic cardiomyopathy (AC) is an inheritable heart disease caused by mutations in genes encoding the cardiac desmosomes, while exercise-induced AC (EiAC) has been proposed as an acquired similar phenotype in athletes. Little is known about the progression of EiAC compared to AC. Purpose To assess functional and structural disease progression in EiAC compared to desmosomal AC during long-term follow-up. Methods We consecutively included probands with definite AC diagnosis according to the 2010 Task Force Criteria and patients with EiAC in a longitudinal cohort study. EiAC was diagnosed in competitive endurance athletes (>24 MET-hours/week for >6 consecutive years) referred with symptomatic ventricular arrhythmias who had no family history, no genetic mutations associated with heart disease, and no other identified etiology after through clinical work-up. All patients in both groups were recommended to avoid high intensity exercise. Progression of the structural phenotype was assessed by regular repeated echocardiographic examinations during long-term follow-up. Right ventricular (RV) function and size were assessed by RV fractional area change (FAC), RV basal diameter (RVD) and RV outflow tract (RVOT) diameter. Disease progression was evaluated and compared using linear mixed model regression. Results Forty-one EiAC patients (15% women, age 45±13 years) and 84 AC probands (51% mutation positive, 35% women, age 43±15) were followed for 6.6 (IQR 3.7-10.5) and 7.9 (IQR 5.2-10.8) years, respectively. Key parameters from 570 echocardiographic examinations (184 EiAC and 386 AC) were assessed. There was no deterioration of RV function during follow-up in EiAC patients, in contrast to AC patients (FAC yearly progression rate: EiAC +0.02% [95% CI -0.27 to 0.31] vs AC -0.60% [95% CI -0.71 to -0.50] per year, p=0.001, Figure left panel). RV size did not increase in EiAC patients in contrast to AC patients (RVD: EiAC +0.01 mm [95% CI -0.00 to 0.03] vs AC +0.78 mm [95% CI 0.68 to 0.89] per year, p<0.001, Figure mid panel, and RVOT: EiAC +0.01 mm [95% CI -0.01 to 0.02] vs AC +0.47 mm [95% CI 0.38 to 0.56] per year, p<0.001, Figure right panel). Conclusion Patients with exercise-induced AC had no evidence of disease progression during long-term follow-up. These patients had a more benign disease trajectory than patients with desmosomal AC. Despite the limited sample size, these results seem reassuring for patients diagnosed with exercise-induced AC.

The athlete's vein: venous adaptations in the lower limbs of endurance athletes.

Endurance exercise induces cardiovascular adaptations; the athletic phenotypes of the heart and arteries are well characterized, but few studies have investigated the effects of chronic exercise on the venous system. The aim of this study was to describe the anatomy and function of lower-limb deep and superficial veins in athletes compared with controls. Endurance-trained athletes and untrained controls (13 males, 7 females per group) were examined using ultrasound to measure vein diameter and flow, and air plethysmography to assess calf venous volume dynamics and muscle pump function at rest, during a single step, ambulation (10 steps) and after acute treadmill exercise (30 min ∼80% age-predicted heart rate maximum). Diameters of three of the seven deep veins assessed were larger in athletes (P ≤ 0.0167) and more medial calf perforators were detectable (5 vs. 3, P = 0.0039). Calf venous volume was 22% larger in athletes (P = 0.0057), and calf muscle pump ejection volume and ambulatory venous volume after 10 steps were both greater in athletes (20 and 46% respectively, P ≤ 0.0482). Following acute exercise, flow recovery profiles in deep and superficial veins draining the leg were not different between groups, despite athletes performing approximately four times more work. After exercise, venous volume and ejection volume were reduced by ∼20% in athletes with no change in controls (interaction, P ≤ 0.0372) and although ambulatory venous volume reduced, this remained greater in athletes. These findings highlight venous adaptations that compensate for the demands of regular endurance exercise, all of which are suited to enhance flow through the lower-limb venous system.NEW & NOTEWORTHY Although much literature exists describing adaptations to the heart and arteries in response to endurance exercise training, less is known about the effects on the venous system. Characteristics of "the athlete's vein" described here include deep and perforator vein remodeling, improved drainage, and greater calf venous volume at rest and on calf muscle pump activation. Following exercise, athletes demonstrated prompt flow recovery and appropriate volume reductions, and veins beneficially adapt to better tolerate the demands of regular physical activity.

Common protein-coding variants influence the racing phenotype in galloping racehorse breeds

Selection for system-wide morphological, physiological, and metabolic adaptations has led to extreme athletic phenotypes among geographically diverse horse breeds. Here, we identify genes contributing to exercise adaptation in racehorses by applying genomics approaches for racing performance, an end-point athletic phenotype. Using an integrative genomics strategy to first combine population genomics results with skeletal muscle exercise and training transcriptomic data, followed by whole-genome resequencing of Asian horses, we identify protein-coding variants in genes of interest in galloping racehorse breeds (Arabian, Mongolian and Thoroughbred). A core set of genes, G6PC2, HDAC9, KTN1, MYLK2, NTM, SLC16A1 and SYNDIG1, with central roles in muscle, metabolism, and neurobiology, are key drivers of the racing phenotype. Although racing potential is a multifactorial trait, the genomic architecture shaping the common athletic phenotype in horse populations bred for racing provides evidence for the influence of protein-coding variants in fundamental exercise-relevant genes. Variation in these genes may therefore be exploited for genetic improvement of horse populations towards specific types of racing.

Fueling equine performance: importance of mitochondrial phenotype in equine athletes.

Fueling equine performance: importance of mitochondrial phenotype in equine athletes.

Molecular Big Data in Sports Sciences: State-of-Art and Future Prospects of OMICS-Based Sports Sciences.

Together with environment and experience (that is to say, diet and training), the biological and genetic make-up of an athlete plays a major role in exercise physiology. Sports genomics has shown, indeed, that some DNA single nucleotide polymorphisms (SNPs) can be associated with athlete performance and level (such as elite/world-class athletic status), having an impact on physical activity behavior, endurance, strength, power, speed, flexibility, energetic expenditure, neuromuscular coordination, metabolic and cardio-respiratory fitness, among others, as well as with psychological traits. Athletic phenotype is complex and depends on the combination of different traits and characteristics: as such, it requires a “complex science,” like that of metadata and multi-OMICS profiles. Several projects and trials (like ELITE, GAMES, Gene SMART, GENESIS, and POWERGENE) are aimed at discovering genomics-based biomarkers with an adequate predictive power. Sports genomics could enable to optimize and maximize physical performance, as well as it could predict the risk of sports-related injuries. Exercise has a profound impact on proteome too. Proteomics can assess both from a qualitative and quantitative point of view the modifications induced by training. Recently, scholars have assessed the epigenetics changes in athletes. Summarizing, the different omics specialties seem to converge in a unique approach, termed sportomics or athlomics and defined as a “holistic and top-down,” “non-hypothesis-driven research on an individual’s metabolite changes during sports and exercise” (the Athlome Project Consortium and the Santorini Declaration) Not only sportomics includes metabonomics/metabolomics, but relying on the athlete’s biological passport or profile, it would enable the systematic study of sports-induced changes and effects at any level (genome, transcriptome, proteome, etc.). However, the wealth of data is so huge and massive and heterogenous that new computational algorithms and protocols are needed, more computational power is required as well as new strategies for properly and effectively combining and integrating data.

Cardiovascular magnetic resonance evaluation of soldiers after recovery from symptomatic SARS-CoV-2 infection: a case\u2013control study of cardiovascular post-acute sequelae of SARS-CoV-2 infection (CV PASC)

BackgroundMyocarditis is a potential complication after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and a known cause of sudden cardiac death. Given the athletic demands of soldiers, identification of myocarditis and characterization of post-acute sequelae of SARS-CoV-2 infection with cardiovascular symptoms (CV PASC) may be critical to guide return-to-service. This study sought to evaluate the spectrum of cardiac involvement among soldiers with cardiopulmonary symptoms in the late convalescent phase of recovery from SARS-CoV-2 compared to a healthy soldier control group, and to determine the rate of progression to CV PASC.MethodsAll soldiers referred for cardiovascular magnetic resonance (CMR) imaging for cardiopulmonary symptoms following COVID-19 were enrolled and matched by age, gender, and athletic phenotype 1:1 to soldiers undergoing CMR in the year prior to the first case of COVID-19 at our institution. Demographic, clinical, laboratory, and imaging parameters were compared between groups. The diagnosis of acute myocarditis was made using modified Lake Louise criteria. Wilcoxon rank sum and chi-squared tests were used for comparison of continuous and categorical variables, respectively.ResultsFifty soldier cases and 50 healthy soldier controls were included. The median time from SARS-CoV-2 detection to CMR was 71 days. The majority of cases experienced moderate symptoms (N = 43, 86%), while only 10% required hospitalization. The right ventricular (RV) ejection fraction (RVEF) was reduced in soldier cases compared to controls (51.0% vs. 53.2%, p = 0.012). Four cases were diagnosed with myocarditis (8%), 1 (2%) was diagnosed with Takotsubo cardiomyopathy, and 1 (2%) had new biventricular systolic dysfunction of unclear etiology. Isolated inferior RV septal insertion late gadolinium enhancement (LGE) was present in 8 cases and 8 controls (16% vs. 24%, p = 0.09).Seven of the 19 (37%) cases that completed an intermediate-term follow-up survey reported CV PASC at a median of 139 days of follow-up. Two of the 7 soldiers (29%) with CV PASC had a pathological clinical diagnosis (myocarditis) on CMR.ConclusionsCardiovascular pathology was diagnosed in 6 symptomatic soldiers (12%) after recovery from SARS-CoV-2, with myocarditis found in 4 (8%). RVEF was reduced in soldier cases compared to controls. CV PASC occurred in over one-third of soldiers surveyed, but did not occur in any soldiers with asymptomatic acute SARS-CoV-2 infection.

The Impact of Exercise and Athletic Training on Vascular Structure and Function

Myocardial adaptation to athletics and exercise training is a well-described process that has garnered much interest over the past decades. By contrast, our understanding of how the vascular system adapts in the trained athlete remains limited. The goal of this review is to provide a comprehensive overview of the impact of exercise on structure and function of the extra-cardiac vascular system. While structural changes in the size of the aorta are rare in young athletes, emerging data suggest that long-term athletic participation may be a risk factor for aortic dilation in middle-age and beyond. In addition, new findings show that even modest amounts of athletic training such as participation in an individual’s first marathon can have important salutary effects on vascular health. Vascular adaptations represent an important part of the athletic phenotype and likely play an important role in the overall cardiovascular health of the trained athlete.

Genomic inbreeding trends, influential sire lines and selection in the global Thoroughbred horse population

The Thoroughbred horse is a highly valued domestic animal population under strong selection for athletic phenotypes. Here we present a high resolution genomics-based analysis of inbreeding in the population that may form the basis for evidence-based discussion amid concerns in the breeding industry over the increasing use of small numbers of popular sire lines, which may accelerate a loss of genetic diversity. In the most comprehensive globally representative sample of Thoroughbreds to-date (n = 10,118), including prominent stallions (n = 305) from the major bloodstock regions of the world, we show using pan-genomic SNP genotypes that there has been a highly significant decline in global genetic diversity during the last five decades (FISR2 = 0.942, P = 2.19 × 10−13; FROHR2 = 0.88, P = 1.81 × 10−10) that has likely been influenced by the use of popular sire lines. Estimates of effective population size in the global and regional populations indicate that there is some level of regional variation that may be exploited to improve global genetic diversity. Inbreeding is often a consequence of selection, which in managed animal populations tends to be driven by preferences for cultural, aesthetic or economically advantageous phenotypes. Using a composite selection signals approach, we show that centuries of selection for favourable athletic traits among Thoroughbreds acts on genes with functions in behaviour, musculoskeletal conformation and metabolism. As well as classical selective sweeps at core loci, polygenic adaptation for functional modalities in cardiovascular signalling, organismal growth and development, cellular stress and injury, metabolic pathways and neurotransmitters and other nervous system signalling has shaped the Thoroughbred athletic phenotype. Our results demonstrate that genomics-based approaches to identify genetic outcrosses will add valuable objectivity to augment traditional methods of stallion selection and that genomics-based methods will be beneficial to actively monitor the population to address the marked inbreeding trend.

Limitations of Electrocardiography for Detecting Left Ventricular Hypertrophy or Concentric Remodeling in Athletes

BackgroundElectrocardiography (ECG) is used to screen for left ventricular hypertrophy (LVH), but common ECG-LVH criteria have been found less effective in athletes. The purpose of this study was to comprehensively evaluate the value of ECG for identifying athletes with LVH or a concentric cardiac phenotype. MethodsA retrospective analysis of 196 male Division I college athletes routinely screened with ECG and echocardiography within the Stanford Athletic Cardiovascular Screening Program was performed. Left-ventricular mass and volume were determined using echocardiography. LVH was defined as left ventricular mass (LVM) >102 g/m²; a concentric cardiac phenotype as LVM-to-volume (M/V) ≥1.05 g/mL. Twelve-lead electrocardiograms including high-resolution time intervals and QRS voltages were obtained. Thirty-seven previously published ECG-LVH criteria were applied, of which the majority have never been evaluated in athletes. C-statistics, including area under the receiver operating curve (AUC) and likelihood ratios were calculated. ResultsECG lead voltages were poorly associated with LVM (r = 0.18-0.30) and M/V (r = 0.15-0.25). The proportion of athletes with ECG-LVH was 0%-74% across criteria, with sensitivity and specificity ranging between 0% and 91% and 27% and 99.5%, respectively. The average AUC of the criteria in identifying the 11 athletes with LVH was 0.57 (95% confidence interval [CI] 0.56-0.59), and the average AUC for identifying the 8 athletes with a concentric phenotype was 0.59 (95% CI 0.56-0.62). ConclusionThe diagnostic capacity of all ECG-LVH criteria were inadequate and, therefore, not clinically useful in screening for LVH or a concentric phenotype in athletes. This is probably due to the weak association between LVM and ECG voltage.

Hormonal and metabolic substrate status in response to exercise in men of different phenotype.

ObjectivesThe present study verified the effect of moderate-to-high-intensity aerobic exercise on the endocrine response profile and adipose tissue in young healthy men with different phenotype characteristics.DesignEighteen men were divided into three experimental groups with defined body components and specific physical fitness: Endurance phenotype – EP (n = 6; low body mass; low fat content; aerobic endurance trained), Athletic phenotype – AP (n = 6; high body mass; low fat content, resistance trained), Obesity phenotype – OP (n = 6; high body mass; high fat content, untrained).MethodsThe participants performed an progressive exercise protocol on a treadmill (30% VO2max, 50% VO2max, 70% VO2max), separated by 45 s of passive rest for blood collection.ResultsPlasma glucose oxidation increased in relation to exercise intensity, but to a greater extent in the AP group. The free fatty acids’ plasma level decreased with a rise in exercise intensity, but with different kinetics in particular phenotypes. Plasma growth hormone increased after the cessation of exercise and was significantly higher in all groups 45 min into recovery compared to resting values. Plasma insulin decreased during exercise in all groups, but in the OP, the decrease was blunted.ConclusionsThe results indicate that the rate of lipolysis, hormonal and metabolic response to aerobic exercise depends on the individuals’ phenotype. Thus, exercise type, duration and intensity have to be strictly individualized in relation to phenotype in order to reach optimal metabolic benefits.

Cellular Aspects of Muscle Specialization Demonstrate Genotype - Phenotype Interaction Effects in Athletes.

IntroductionGene polymorphisms are associated with athletic phenotypes relying on maximal or continued power production and affect the specialization of skeletal muscle composition with endurance or strength training of untrained subjects. We tested whether prominent polymorphisms in genes for angiotensin converting enzyme (ACE), tenascin-C (TNC), and actinin-3 (ACTN3) are associated with the differentiation of cellular hallmarks of muscle metabolism and contraction in high level athletes.MethodsMuscle biopsies were collected from m. vastus lateralis of three distinct phenotypes; endurance athletes (n = 29), power athletes (n = 17), and untrained non-athletes (n = 63). Metabolism-, and contraction-related cellular parameters (such as capillary-to-fiber ratio, capillary length density, volume densities of mitochondria and intramyocellular lipid, fiber mean cross sectional area (MCSA) and volume densities of myofibrils) and the volume densities of sarcoplasma were analyzed by quantitative electron microscopy of the biopsies. Gene polymorphisms of ACE (I/D (insertion/deletion), rs1799752), TNC (A/T, rs2104772), and ACTN3 (C/T, rs1815739) were determined using high-resolution melting polymerase chain reaction (HRM-PCR). Genotype distribution was assessed using Chi2 tests. Genotype and phenotype effects were analyzed by univariate or multivariate analysis of variance and post hoc test of Fisher. P-values below 0.05 were considered statistically significant.ResultsThe athletes demonstrated the specialization of metabolism- and contraction-related cellular parameters. Differences in cellular parameters could be identified for genotypes rs1799752 and rs2104772, and localized post hoc when taking the interaction with the phenotype into account. Between endurance and power athletes these concerned effects on capillary length density for rs1799752 and rs2104772, fiber type distribution and volume densities of myofibrils (rs1799752), and MSCA (rs2104772). Endurance athletes carrying the I-allele of rs1799752 demonstrated 50%-higher volume densities of mitochondria and sarcoplasma, when power athletes that carried only the D-allele showed the highest fiber MCSAs and a lower percentage of slow type muscle fibers.DiscussionACE and tenascin-C gene polymorphisms are associated with differences in cellular aspects of muscle metabolism and contraction in specifically-trained high level athletes. Quantitative differences in muscle fiber type distribution and composition, and capillarization in knee extensor muscle explain, in part, identified associations of the insertion/deletion genotypes of ACE (rs1799752) with endurance- and power-type Sports.

Analysis of sports-relevant polymorphisms in a large Brazilian cohort of top-level athletes.

In recent years, there have been an increasing number of genetic variants associated with athletic phenotypes. Here, we selected a set of sports-relevant polymorphisms that have been previously suggested as genetic markers for human physical performance, and we examined their association with athletic status in a large cohort of Brazilians. We evaluated a sample of 1,622 individuals, in which 966 were nonathletes, and 656 were athletes: 328 endurance athletes and 328 power athletes. Only the AGT M268T minor allele was nominally associated with the endurance status. Conversely, we found that seven polymorphisms are more frequent in power athletes (MCT1 D490E, AGT M268T, PPARG P12A, PGC1A G482S, VEGFR2 Q472H, NOS3 C/T, and ACTN3 R577X). For all of these polymorphisms, power athletes were more likely than nonathletes or endurance athletes to carry the major allele or the homozygous genotype for the major allele. In particular, MCT1 D490E, AGT M268T, NOS3 C/T, and ACTN3 R577X showed stronger associations. Our findings support a role for these variants in the achievement of power athletic status in Brazilians: MCT1 D490E (T allele), AGT M268T (G allele), PPARG (C allele), PGC1A G482S (C allele), VEGFR2 Q472H (T allele), NOS3 C/T (T allele), and ACTN3 R577X (R allele).

ACTN3, Morbidity, and Healthy Aging.

As human longevity increases, recent research has focused on the maintenance of optimal health during old age. One such area of focus is that of muscle function in the elderly, with a loss of muscle mass increasing the risk of negative outcomes such as sarcopenia and a decrease in bone mineral density. In this mini-review, we focus on the impact of a single nucleotide polymorphism in ACTN3, shown to impact muscle phenotype in elite athletes, on loss of muscle function, maintenance of bone mineral density, and metabolic disorder risk in an elderly population. From the surveyed research, this polymorphism has a clear and demonstrable impact on muscle phenotype and bone mineral density in this population, and acts as a potential modulator for metabolic disorders. As such, knowledge of an individual’s ACTN3 genotype may better inform the management of risk factors in the elderly, as well as driving innovations in exercise program design. Subsequently, such insights may contribute to the prolonged maintenance of health and function long into old age.

Association Between Candidate Performance-related Gene Polymorphisms And Strength In Iranian Elite Athletes

One of the most important elements gives us the potential to individualize as an elite endurance runner or world champion weight lifter is DNA sequence variation. Investigations has discussed that about 66 percent of the variability in the athletic position is under the influence of genetics. There are many sport-related traits which can be explained by common. One of the traits whose heritability may depend on SNPs is maximal muscle strength. Unlike the vast number of studies in genetic profile of endurance performance, the genetic influence on elite strength performance has received less attention. PURPOSE: The purpose of this study was to investigate the relation between the polymorphisms of candidate genes (ACTN3, PGC-1α, ACE, CKMM, and PPARγ) with strength trait in Iranian elite athletes. METHODS: The subjects of this study included 100 Iranian elite athletes from different disciplines, as well as 100 sedentary healthy controls. Body mass index (BMI), waist-hip ratio (WHR), body fat percentage (%BF) has been measured for physical characteristic of subjects. Grip strength test has been conducted to measure maximal strength. Genomic DNA was extracted from saliva. Genetic polymorphism evaluation performed by RFLP and double check with sequencing methods. One-way ANOVA was used to assess differences between genotype groups for investigated phenotypes. RESULTS: Measuring Mean differences showed that %BF (athlete: 12.78±4.48, non-athlete: 17.9±5.84), WHR (athlete: 0.83±0.5, non-athlete: 0.80±0.06) and grip strength (athlete: 49.54±0.5, non-athlete: 40.16±0.8) were significantly different in two groups (P≤0.05). We have shown that ACTN3 (P=0.027), ACE (P=0.001), and CKMM (P=0.041) polymorphisms were significantly associated with strength phenotype in elite athletes. While the ACTN3 (P=0.040) polymorphism was the only one that had a significant association in unsorted control population. CONCLUSIONS: Considering Iranian population as Caucasians, these results may lead us to clarify the polygenic profiles of athletes in this ethnicity, although we have to out spread this study to different disciplines of athletic populations. Further investigations are warranted to study the mechanisms by which these polymorphisms may affect skeletal muscle to produce force.

Sports genetics moving forward: lessons learned from medical research.

Sports genetics can take advantage of lessons learned from human disease genetics. By righting past mistakes and increasing scientific rigor, we can magnify the breadth and depth of knowledge in the field. We present an outline of challenges facing sports genetics in the light of experiences from medical research. Sports performance is complex, resulting from a combination of a wide variety of different traits and attributes. Improving sports genetics will foremost require analyses based on detailed phenotyping. To find widely valid, reproducible common variants associated with athletic phenotypes, study sample sizes must be dramatically increased. One paradox is that in order to confirm relevance, replications in specific populations must be undertaken. Family studies of athletes may facilitate the discovery of rare variants with large effects on athletic phenotypes. The complexity of the human genome, combined with the complexity of athletic phenotypes, will require additional metadata and biological validation to identify a comprehensive set of genes involved. Analysis of personal genetic and multiomic profiles contribute to our conceptualization of precision medicine; the same will be the case in precision sports science. In the refinement of sports genetics it is essential to evaluate similarities and differences between sexes and among ethnicities. Sports genetics to date have been hampered by small sample sizes and biased methodology, which can lead to erroneous associations and overestimation of effect sizes. Consequently, currently available genetic tests based on these inherently limited data cannot predict athletic performance with any accuracy.

Prospects of Molecular Genetics in Sports Medicine

During the last two decades, sports medicine is increased and experienced a stage of rapid development, especially in such areas as the study of strength, endurance, sports injuries and psychology. Study of ongoing changes when performing exercises at the cellular and molecular levels led to the development of new areas in the sports science as known as genetic medicine that deals with the genetic basis of athletic phenotype. Around 66 % of the variance in athlete status is explained by genetic factors, the remaining variance is due to other factors such as training, nutrition, equipment, motivation, sleeping and epigenetics. Over the last two decades, at least 155 genetic markers (located in almost all chromosomes and mtDNA) were associated with elite athlete status (93 genetic markers with endurance and 62 markers with power/force). The number of identified genetic markers associated with sports activity, grew at a rate exponentially: in 1997 – 5 genes; in 2000 – 24 genes; in 2004 – 101 genes. During the last 19 years, found that at least 120 of genetic markers associated with elite athlete status (77 genetic markers related to endurance and 43 genetic marker settings capacity/power). Of the polymorphisms associated with sports endurance, the angiotensin-converting enzyme (ACE) and alpha actinin-3 (ACTN3) polymorphisms have been the most frequently studied, and meta-analyses have confirmed the associations. ACTN3 is absent in approximately 18% of European population, 25-29% of Japanese population and overall about 1.5 billion people in all countries. Therefore, to date, available genetic tests based on small sample sizes and the selected analytical methodology can lead to erroneous associations and to reassess the size of the effect, and of course, the use of such limited data does not allow us to predict athletic ability with high accuracy.