Genome-wide association study identifying variants related to performance and injury in high-performance athletes.

A growing body of evidence exists supporting the role that genetic variation plays in athletic performance and injury. This study sought to identify genetic variants associated with performance and lower limb musculoskeletal injury in a high-level athletic cohort. A total of 126 Estonian National Team members (Olympic athletes and participants of International Championships) (104 males, 82.5%) underwent a genome-wide association analysis between 2017 and 2018, to identify single-nucleotide polymorphisms (SNPs) associated with performance and/or injury. The athletic cohort was stratified within each sport based on performance and whether they were a medalist (n = 29) or not (n = 97), whether they sustained an injury (n = 47) or not (n = 79), and the type of injury (patella tendinopathy n = 22, Achilles tendinopathy n = 17, hamstring injury n = 3, anterior cruciate ligament rupture n = 6). Three SNPs demonstrated strong genome-wide association with athletic performance (podium/medalist versus not), including DSG1 (rs10502567, OR 14.3) and DSG4 (rs73410248, OR 17.4), while 76 SNPs demonstrated suggestive significance. Overall, 37 SNPs gave genome-wide suggestive association with any type of injury, including PAPPA2 (rs11580456, OR 13.8) and MAS1 (rs220735, rs170219, OR 3.1) which demonstrated positive signal with multiple SNPs. Several genes demonstrated positive association for the specific injury types, including COL22A1 (rs3924862) and PLXNA2 (rs11799530), as well as PAPPA2 (rs11580456), DOK5 (rs73142922), GNG12 (rs28435277), and DAP (rs267959, rs2930047, rs1080440, rs267939). The current study identified genetic variants associated with high-level athletic performance and musculoskeletal injury. Further work is required to permit integration of this and future knowledge into individualized training practices, as well as injury mitigation and rehabilitation programs.

Serum Osteocalcin, Sclerostin and Lipocalin-2 Levels in Adolescent Boys with Obesity over a 12-Week Sprint Interval Training.

The aim of the study was to examine the effects of supervised cycling sprint interval training (SIT) on serum osteocalcin, lipocalin-2 and sclerostin levels, and bone mineral characteristics among obese adolescent boys. Untrained obese adolescent boys aged 13.4 ± 0.3 were assigned to either a 12-week SIT group (3 sessions/week), or a non-exercising control group who continued with their habitual everyday life. Serum osteocalcin, lipocalin-2 and sclerostin concentrations, and bone mineral values were assessed before and after intervention. After 12-week intervention, where 14 boys in both groups ended the study, there were no significant differences in serum osteokine levels between the groups after 12 weeks, while whole body bone mineral content and lower limb bone mineral density increased in the SIT group (p < 0.05). Change in body mass index was negatively correlated with the change in osteocalcin (r = -0.57; p = 0.034), and positively correlated with the change in lipocalin-2 levels (r = 0.57; p = 0.035) in the SIT group. Supervised 12-week SIT intervention improved bone mineral characteristics, but did not change osteocalcin, lipocalin-2 or sclerostin levels in adolescent boys with obesity.

Effect of Sprint Interval Training on Cardiometabolic Biomarkers and Adipokine Levels in Adolescent Boys with Obesity.

This study investigated the effect of supervised sprint interval training (SIT) on different cardiometabolic risk factors and adipokines in adolescent boys with obesity. Thirty-seven boys were allocated to either a SIT group (13.1 ± 0.3 years; body mass index [BMI]: 30.3 ± 0.9 kg·m-2) or a control group (CONT) (13.7 ± 0.4 years; BMI: 32.6 ± 1.6 kg·m-2). The SIT group performed 4-6 × 30 s all-out cycling sprints, interspersed with 4 min rest, for 3 sessions/week, during a 12-week period, while the non-exercising CONT group maintained a habitual lifestyle. Anthropometric measurements, triglycerides, fasting insulin and glucose, total cholesterol (TC), high- (HDLc) and low-density (LDLc) cholesterol, leptin and adiponectin in blood, cardiorespiratory fitness (CRF), and a metabolic syndrome severity risk score (MSSS) were calculated before and after the 12-week period. Compared to baseline values, a significant reduction in MSSS was seen in the SIT group after intervention. LDLc showed favorable changes in SIT compared to CONT (-0.06 ± 0.1 vs. 0.19 ± 0.01 mmol·L-1; p = 0.025). Additionally, CRF increased in the SIT group compared to the CONT group (5.2 ± 1.1 vs. -2.1 ± 1.1 mL·min-1·kg-1, p < 0.001). Moreover, a 12-week all-out SIT training effectively improves cardiometabolic health in adolescent boys with obesity.

Effect of supervised sprint interval training on cardiorespiratory fitness and body composition in adolescent boys with obesity.

This study examined the effect of a supervised 12-week sprint interval training (SIT) on cardiorespiratory fitness (CRF) and body composition in adolescent boys with obesity. Twenty-eight adolescents with obesity were allocated to either an intervention group (SIT) (13.1 ± 0.3 yrs; body mass index [BMI]: 30.3 ± 0.9 kg.m-2) or a control group (CONT) (13.7 ± 0.4 yrs; BMI: 32.6 ± 1.6 kg.m-2). The SIT group performed 4-6 × 30s "all-out" cycling bouts, interspersed with 4 min of recovery 3 days a week for 12 weeks. CRF was measured by direct peak oxygen consumption (VO2peak) defined as VO2peak per kg of body mass (mL.min-1kg-1) or by VO2peak per kg of lean body mass (mL.min-1LBM-1) and body composition was assessed by dual-energy X-ray absorptiometry. SIT intervention led to a significant and large between-group difference in VO2peak (p = 0.004; η2 = 0.29). Although SIT group had a significant reduction in body fat percentage (BF%) (from 41.1 ± 1.3% to 39.2 ± 1.5%; p = 0.006), there were no between-group differences in the change of the pre- and post-measures in BF% (p = 0.067). In conclusion, 12-week SIT is effective in increasing CRF and decreasing BF% in adolescent boys with obesity.

The Association Analysis between ACE and ACTN3 Genes Polymorphisms and Endurance Capacity in Young Cross-Country Skiers: Longitudinal Study.

Endurance performance depends on the integration of several phenotypic traits influenced by multiple environmental and genetic factors. Objectives of the study were: (1) to examine the genotypic frequencies of the ACE I/D, ACTN3 R577X polymorphisms and endurance performance-related phenotypes, (2) to evaluate the dynamics of endurance performance parameters during a 5-year period in relation to ACE I/D and ACTN3 R577X genotypes in Estonian young skiers. Determination of VO2peak was performed in 58 skiers aged 15-19 years (41 males, 17 females) during a 5-year period. The control group consisted of 322 healthy non-athletic subjects (145 males, 177 females). The study groups were genotyped for the ACE I/D and ACTN3 R577X variants. Frequencies of the ACE ID and ACTN3 RR genotypes were significantly higher (p = 0.047 and p = 0.003, respectively) and the RX genotype was lower (p = 0.008) in young male skiers compared with controls. A significant relationship was found between change (Δ) of training volume and ΔVO2peak (mL·kg(-1)·min(-1)) (r = 0.475, p = 0.002). No significant main effect was detected between VO2peak (mL·kg(-1)·min(-1)) dynamics (comparison with the previous age group data) and ACE I/D and ACTN3 R577X genotypes interactions (F = 0.571, p = 0.770 and F = 0.650 and p = 0.705, respectively) in all young skiers. Study results indicated a significantly higher frequency of the ACE ID and ACTN3 RR genotypes among Estonian young male skiers compared with the male control group. Significant genotype-related differences in dynamics of VO2peak during a 5-year period were not found. In the future, longitudinal research including different gene variants may contribute to a better understanding of the nature of endurance performance. Key pointsSignificantly higher prevalence of the ACE ID and the ACTN3 RR genotypes were found among Estonian young male skiers compared with the male control group, which may be an advantage for the explosive speed and power capacity in race skiing.A more remarkable trend of increase in VO2peak (mL·kg(-1)·min(-1)) during the 5-year period was observed among male skiers with the ACTN3 XX genotype and among female skiers with the ACE ID genotype.No significant genotype-related associations in the dynamics of VO2peak were found during the 5-year period.