Association of Gene Variants for Mechanical and Metabolic Muscle Quality with Cardiorespiratory and Muscular Variables Related to Performance in Skiing Athletes

BACKGROUND Skiing is a popular outdoor sport posing different requirements on musculoskeletal and cardiorespiratory function to excel in competition. The extent to which genotypic features contribute to the development of performance with years of ski-specific training remains to be elucidated. We therefore tested whether prominent polymorphisms in genes for angiotensin converting enzyme (ACE-I/D, rs1799752), tenascin-C (TNC, rs2104772), actinin-3 (ACTN3, rs1815739) and PTK2 (rs7460 and rs7843014) are associated with the differentiation of cellular hallmarks of muscle metabolism and contraction in high level skiers. MATERIAL & METHODS Forty-three skiers of a world-leading national ski team performed exhaustive cardiopulmonary exercise testing as well as isokinetic strength testing for single contractions, whereby 230 cardiopulmonary measurements were performed in the period from 2015-2018. A total of 168 and 62 data measurements were from the Alpine and Nordic skiing squads, respectively. Ninety-five and one hundred thirty-five measurements, respectively, were from male and female athletes. The average (±SD) age was 21.5 ± 3.0 years, height 174.0 ± 8.7 cm, and weight 71.0 ± 10.9 kg for the analysed skiers. Furthermore, all skiers were analysed concerning their genotype ACE-I/D, Tenascin C, ACTN3, PTK2. RESULTS The genotype distribution deviated from Hardy-Weinberg equilibrium for the ACTN3 genotype, where rs1815739-TT genotypes (corresponding to the nonsense mutation) were overrepresented in world-class skiers, indicating a slow muscle fibre phenotype. Furthermore, the heterozygous rs2104772-AT genotypes of TNC also demonstrated the best scaled peak power output values during ramp exercise to exhaustion. The highest values under maximum performance for heart rate were associated with the rs1799752-II and rs1815739-CC genotypes. The lowest values for peak power of single contractions were achieved for rs1815739-CC, rs1799752-II and rs7843014-CT genotypes. The skiing discipline demonstrated a main influence on cardiorespiratory parameters but did not further interact with genotype-associated variability in performance. DISCUSSION Classically, it is pointed out that muscles of, for example, alpine skiers do not possess a distinct fibre type composition, but that skiers tend to have a preponderance of slow-twitch fibres. Consequently, our findings of an overrepresentation of ACTN3-TT genotypes in a highly selective sample of elite world class skiers support the potential superiority of a slow fibre type distribution. CONCLUSIONS We suggest that one competitive advantage that results from a slow, typically fatigue-resistant fibre type distribution might be that performance during intense training days is better preserved, whereby simply a higher technical training volume can be performed, yielding to a competitive advantage

A cross-sectional observation on maximal eccentric hamstring strength in 7-to 15-year-old competitive alpine skiers

Severe knee injuries are common in alpine skiing and the hamstring muscles are known to counteract the anterior tibial displacement that typically accompanies major injury mechanisms. This study aimed to assess the Maximal Eccentric Hamstring Strength (MEHS) of youth competitive alpine skiers during Nordic Hamstring Exercise (NHE) in terms of dependence of sex, age and biological maturation. A total of 246 7- to 15-year-old skiers were tested with respect to their MEHS using an NHE-based measurement device (Vald Performance, Newstead, Australia). Significantly greater absolute MEHS was observed in skiers of the under 15 years (U15) category compared to skiers under 10 years old (U10) (227.9 ± 61.1 N vs. 142.6 ± 28.9 N; p < 0.001), also when grouped by sex. Absolute MEHS was revealed to be lower in U15 females compared to males (213.5 ± 49.0 N vs. 241.9 ± 68.4 N; p = 0.001); in U10 skiers there was no sex difference. For all age groups and sexes, absolute MEHS values were significantly correlated with age and biological maturation (p < 0.001). However, when normalized to body weight such associations disappeared, which is why this is strongly recommended when testing around their growth spurt. Overall, this study established sport-specific normative reference data that may be of interest to researchers and sport practitioners alike

Deadbug Bridging Performance in 6- to 15-Year-Old Competitive Alpine Skiers—A Cross-Sectional Study

In competitive alpine skiing, a superior antirotation and rear-chain stabilization capacity is essential to constantly remain in dynamic equilibrium while skiing and to counteract the ski-specific adverse loading patterns of the back. As such, skiers' trunk stabilization performance during deadbug bridging (DBB) exercises has been shown to be associated with both skiing performance and overuse complaints of the lower back in skiers under 16 years of age (U16). However, to date, little is known about the corresponding stabilization abilities in younger skiers, i.e., 6- to 15-year-old skiers. As part of a biomechanical field experiment during a national off-snow fitness competition, a total of 101 youth competitive alpine skiers were tested with respect to their trunk stabilization performance during DDB exercise. The maximum contralateral displacement of the pelvic drop during leg lift (DBBdisplacement) was quantified using reflective markers and a motion capture system (Vicon, Oxford, UK). Potential age group and sex differences in DBBdisplacement were assessed using analysis of variance (ANOVA) at p < 0.05. Within each subgroup, the associations of DBBdisplacement with age, anthropometrics and maturity offset were analysed using Pearson's correlation (p < 0.05). Female skiers under 15 years of age (U15) showed better DBB performance than male U15 skiers, while there was no sex difference at the under 10-year (U10) level. In female U10 skiers, DBBdisplacement was moderately associated with body height, while in all other subgroups, no confounding associations with anthropometrics or biological maturation were found. Biomechanically quantifying DBB performance may be considered a feasible and nonconfounded screening test approach in young skiers older than 6 years. Body height may represent a confounding bias in exclusively the U10 female skier cohort and, therefore, should be considered when interpreting the test results. In summary, this study provided sport-specific normative reference data that may be of equal interest to both researchers and sport practitioners. Keywords: athletes; biological maturation; core stability; injury prevention; physical conditioning; physical fitness; skiing; testin

Association of Gene Variants with Seasonal Variation in Muscle Strength and Aerobic Capacity in Elite Skiers

Background: The training of elite skiers follows a systematic seasonal periodization with a preparation period, when anaerobic muscle strength, aerobic capacity, and cardio-metabolic recovery are specifically conditioned to provide extra capacity for developing ski-specific physical fitness in the subsequent competition period. We hypothesized that periodization-induced alterations in muscle and metabolic performance demonstrate important variability, which in part is explained by gene-associated factors in association with sex and age. Methods: A total of 34 elite skiers (20.4 ± 3.1 years, 19 women, 15 men) underwent exhaustive cardiopulmonary exercise and isokinetic strength testing before and after the preparation and subsequent competition periods of the World Cup skiing seasons 2015-2018. Biometric data were recorded, and frequent polymorphisms in five fitness genes, ACE-I/D (rs1799752), TNC (rs2104772), ACTN3 (rs1815739), and PTK2 (rs7460, rs7843014), were determined with specific PCR reactions on collected DNA. Relative percentage changes of cardio-pulmonary and skeletal muscle metabolism and performance over the two seasonal periods were calculated for 160 data points and subjected to analysis of variance (ANOVA) to identify hypothesized and novel associations between performance alterations and the five respective genotypes and determine the influence of age × sex. A threshold of 0.1 for the effect size (h2) was deemed appropriate to identify relevant associations and motivate a post hoc test to localize effects. Results: The preparation and competition periods produced antidromic functional changes, the extent of which varied with increasing importance for anaerobic strength, aerobic performance, cardio-metabolic efficiency, and cardio-metabolic/muscle recovery. Only peak RER (-14%), but not anaerobic strength and peak aerobic performance, and parameters characterizing cardio-metabolic efficiency, differed between the first and last studied skiing seasons because improvements over the preparation period were mostly lost over the competition period. A number of functional parameters demonstrated associations of variability in periodic changes with a given genotype, and this was considerably influenced by athlete "age", but not "sex". This concerned age-dependent associations between periodic changes in muscle-related parameters, such as anaerobic strength for low and high angular velocities of extension and flexion and blood lactate concentration, with rs1799752 and rs2104772, whose gene products relate to sarcopenia. By contrast, the variance in period-dependent changes in body mass and peak VO2 with rs1799752 and rs2104772, respectively, was independent of age. Likely, the variance in periodic changes in the reliance of aerobic performance on lactate, oxygen uptake, and heart rate was associated with rs1815739 independent of age. These associations manifested at the post hoc level in genotype-associated differences in critical performance parameters. ACTN3 T-allele carriers demonstrated, compared to non-carriers, largely different periodic changes in the muscle-associated parameters of aerobic metabolism during exhaustive exercise, including blood lactate and respiration exchange ratio. The homozygous T-allele carriers of rs2104772 demonstrated the largest changes in extension strength at low angular velocity during the preparation period. Conclusions: Physiological characteristics of performance in skiing athletes undergo training period-dependent seasonal alterations the extent of which is largest for muscle metabolism-related parameters. Genotype associations for the variability in changes of aerobic metabolism-associated power output during exhaustive exercise and anaerobic peak power over the preparation and competition period motivate personalized training regimes. This may help to predict and maximize the benefit of physical conditioning of elite skiers based on chronological characteristics and the polymorphisms of the ACTN3, ACE, and TNC genes investigated here

The ISPA Int Injury Prevention Programme for Youth Competitive Alpine Skiers: A Controlled 12-Month Experimental Study in a Real-World Training Setting

Evidence-based injury prevention programmes for youth competitive alpine skiers are widely absent. The aims of this controlled 12-month experimental study were to introduce a novel injury prevention programme targeted to the injury patterns of youth skiers, called ISPAInt , and to compare the differences in injury occurrence between an intervention group (IG) additionally performing the ISPAInt programme and an independent, historical control group (CG) following their regular training routines. None of the skiers of the CG were part of the IG and vice versa. The study was directly conducted within the real-world youth development structures of skiers competing at the under 16 years (U16) level in Switzerland. Seventy-one skiers (aged 14.4 ± 0.3 years) assigned to the IG were compared to 58 age- and gender-matched controls. The IG was offered the ISPAInt programme with the recommendation to perform it at least once per week. Skiers' adherence to this recommendation was surveyed but not enforced. Injuries were recorded using the Oslo Sports Trauma Research Centre Questionnaire. Primary outcomes were the absolute injury rates (number of injuries/100 athletes per season) and epidemiological incidence proportion (number of injured athletes/100 athletes per season). The secondary outcome was the average 2-weekly prevalence of traumatic knee, knee overuse, and lower back overuse injuries. There were lower absolute rates of all traumatic injuries [rate/risk difference, RD: -57.1 (-98.1, -16.0); rate/risk ratio, RR: 0.665 (0.485, 0.884)] and overuse injuries [RD: -35.9 (-71.0, -0.7); RR: 0.699 (0.493, 0.989)] in the IG than in the CG. Likewise, the epidemiological incidence proportion for all overuse injuries was smaller in the IG [RD: -28.4 (-44.8, -12.0); RR: 0.598 (0.435, 0.822)], while the proportion of skiers suffering from traumatic injuries did not significantly differ between the groups. Notably, the IG particularity differed from the CG in the average 2-weekly prevalence of knee trauma, knee overuse, and lower back overuse complaints, three of the major injury-related hot spots in youth skiers. Based on these promising results, the ISPAInt programme may have great potential to prevent injuries in youth competitive alpine skiers, and the underlying exercises should be considered complementary training content at the U16 level. Keywords: alpine skiing; athletes; injury prevention; neuromuscular performance; overuse injuries; traumatic injuries

Biceps femoris long head morphology in youth competitive alpine skiers is associated with age, biological maturation and traumatic lower extremity injuries

Lower extremity injuries are common in competitive alpine skiers, and the knee and lower leg are often affected. The hamstring muscles, especially the biceps femoris long head (BFlh), can stabilize the knee and the hip and may counteract various adverse loading patterns during typical mechanisms leading to severe lower extremity injuries. The aim of the present study was to describe BFlh morphology in youth competitive alpine skiers in relation to sex, age and biological maturation and to investigate its association with the occurrence of traumatic lower extremity injuries in the upcoming season. 95 youth skiers underwent anthropometric measurements, maturity offset estimations and ultrasound assessment, followed by 12-months prospective injury surveillance. Unpaired t tests showed that the two sexes did not differ in BFlh morphology, including fascicle length (Lf), pennation angle (PA), muscle thickness (MT) and average anatomical cross-sectional area (ACSAavg). In contrast, U16 skiers had longer fascicles than U15 skiers (9.5 ± 1.3 cm vs 8.9 ± 1.3 cm, p < 0.05). Linear regression analyses revealed that maturity offset was associated with Lf (R 2 = 0.129, p < 0.001), MT (R 2 = 0.244, p < 0.001) and ACSAavg (R 2 = 0.065, p = 0.007). No association was found between maturity offset and PA (p = 0.524). According to a binary logistic regression analysis, ACSAavg was significantly associated with the occurrence of traumatic lower extremity injuries (Chi-square = 4.627, p = 0.031, RNagelkerke 2 = 0.064, Cohen f = 0.07). The present study showed that BFlh morphology is age- and biological maturation-dependent and that BFlh ACSAavg can be considered a relevant modifiable variable associated with lower extremity injuries in youth competitive alpine skiers. Keywords: alpine ski racing; hamstrings; injury prevention; muscle morphology; ultrasound imaging; youth athlete

Prospective Study on Dynamic Postural Stability in Youth Competitive Alpine Skiers: Test-Retest Reliability and Reference Values as a Function of Sex, Age and Biological Maturation

This study aimed 1) to assess the test-retest reliability of dynamic postural stability index (DPSI) assessments using a ski-specific jump protocol that consists of single-leg landings on a three-dimensional force plate after forward-performed double-leg drop jumps from a box over a hurdle (DJSLLs), 2) to provide reference values for female and male youth competitive alpine skiers; 3) to explore their changes in DPSI over 3 years during adolescence; and 4) to investigate potential associations of DPSI with age and biological maturation. Using three-dimensional force plates, 16 healthy subjects were tested on the same day (test-retest reliability experiment; five test-retest assessments of right leg landings), and 76 youth skiers aged 13-15 years were tested 3 times within 2 years (main experiment; average of two trials per leg each time). The test-retest reliability experiment revealed an ICC(3,1) and 95% CI of 0.86 [0.74, 0.94] for absolute DPSI assessment. The within-subject SEM of absolute DPSI was 16.30 N [13.66 N, 20.65 N], and the standardized typical error was moderate (0.39 [0.33, 0.50]). Both absolute and relative DPSI values were comparable between male and female youth competitive alpine skiers. The mean absolute DPSI in year 1 (195.7 ± 40.9 N), year 2 (196.5 ± 38.9 N) and year 3 (211.5 ± 41.3 N) continuously increased (i.e., worsened) (p < 0.001). Mean relative, i.e. body weight force normalized, DPSI values significantly decreased, i.e., improved, from year 1 to 2 (0.42 ± 0.01 vs. 0.36 ± 0.004; p < 0.001) and year 1 to 3 (0.42 ± 0.01 vs. 0.36 ± 0.01; p < 0.001). Absolute DPSI correlated with age and biological maturation, while no such correlations were found for relative DPSI values. Our findings suggest that DPSI is a reliable and sensitive measure of dynamic postural control during DJSLLs and that relative DPSI improves annually in competitive youth skiers when accounting for body weight. Future work should consider biological maturation testing during the growth spurt, and normalizing to body weight force could be a possible solution

Maximal eccentric hamstrings strength in competitive alpine skiers: cross-sectional observations from youth to elite level

Competitive alpine skiers are subject to substantial risks of injury, especially concerning the anterior cruciate ligament (ACL). During “landing back weighted” episodes, hamstrings may partially counteract the anterior shear force acting on the tibia by eccentrically resisting the boot-induced drawer of the tibia relative to the femur. The aim of the present study was to provide novel descriptive data and sport-specific reference values on maximal eccentric hamstrings strength (MEHS) in competitive alpine skiers from youth to elite level, and to explore potential relationships with sex, age and biological maturation. 170 competitive alpine skiers were investigated: 139 youth athletes (51 females, 88 males; age: 13.8 ± 0.59 years) and 31 elite athletes (19 females, 12 males; age: 21.7 ± 2.8 years). MEHS was assessed by the (Vald Performance, Newstead, Australia). U15 female skiers presented lower MEHS compared to female elite skiers for both limbs (R = 210 ± 44 N vs. 340 ± 48 N, respectively, p &lt; 0.001, and L = 207 ± 46 N vs. 303 ± 35 N, respectively, p &lt; 0.001). Similarly, lower MEHS was observed in U15 male skiers compared to male elite skiers for both limbs (R = 259 ± 51 N vs. 486 ± 62 N, respectively, p &lt; 0.001, and L = 258 ± 57 N vs. 427 ± 54 N, respectively, p &lt; 0.001). Correlations between MEHS and chronological age were modestly significant only for the U15 group (r = 0.37 and p &lt; 0.001). When the correlations for the U15 group were performed between MHES and maturity offset (obtained from the calculation of biological age, i.e., age at peak height velocity), statistical significance was reached by all the correlations run for 3 variables (Males &lt; 0: r = 0.59, p &lt; 0.0001; Males &gt; 0: r = 0.70, p &lt; 0.0001; and Females &gt; 0: r = 0.46, p &lt; 0.0001, start of maturity offset = 0). This cross-sectional description of MEHS in alpine skiers from youth to elite level highlights the importance of biological maturation for MEHS values in youth athletes and presents novel data that may offer insights into new approaches for injury prevention

Altered regional 3D shear wave velocity patterns in youth competitive alpine skiers suffering from patellar tendon complaints - a prospective case-control study

Patellar tendon (PT) complaints are frequent throughout the population, with increased occurrence in athletes and, particularly, in youth competitive alpine skiers. Timely detection and treatment might improve prospects of recovery. Diagnostic modalities in clinical use to date rely on pain symptoms, manual palpation, and potentially, magnetic resonance imaging (MRI); however, MRI-based imaging yields limited sensitivity. Quantitatively measuring the morphological and mechanical properties of PTs by means of B-mode ultrasound and shear wave elastography (SWE), instead, may allow improved diagnosis or even early detection. We performed B-mode scans and three-dimensional ultrasound shear wave velocity (SWV) mapping and MRI of the PT in 106 youth skiers. A prospective one-year survey on health problems combined with clinical assessments served to categorize symptomatic and asymptomatic youth skiers. Skiers suffering from distal or proximal tendon complaints showed lower SWV in the respective tendon region than asymptomatic skiers (p = 0.035 and p = 0.019, respectively). Youth skiers with distal tendon complaints additionally exhibited decreased SWV in the proximal region compared to asymptomatic counterparts (p = 0.020). Cross-validated analysis of retrospective prediction indicated sensitivity and specificity in detecting tendon complaints in the range of 0.606-0.621 and 0.536-0.650, respectively. MRI detected distal tendon complaints with a sensitivity of 0.410 (12/29) but failed to detect any proximal cases. This study agrees with the most recent literature in that SWE holds promise as a valuable adjunct modality for the diagnosis of PT complaints or even the detection of subclinical prestages. However, to evaluate its prospective predictive value, long-term studies are warranted. HighlightsPatellar tendon complaints are a frequent complaint in athletes, particularly in youth competitive alpine skiers, but timely quantitative detection of related tendon properties remains challenging.Quantitative B-mode US and three-dimensional ultrasound shear wave elastography assessments and magnetic resonance imaging were performed in youth competitive alpine skiers.Three-dimensional shear wave elastography was able to discern symptomatic from asymptomatic patellar tendons both in the distal and proximal tendon regions, whereas magnetic resonance imaging failed to detect any proximal cases. Keywords: Biomechanics; athletes; cumulative trauma disorders

Lumbar Multifidus Morphology in Youth Competitive Alpine Skiers and Associated Sex, Age, Biological Maturation, Trunk Stability, and Back Complaints

BACKGROUND The lumbar multifidus (LMF), as a dynamic stabilizer of the lumbar spine, may play an important role in the prevention of overuse-related back complaints. HYPOTHESIS LMF morphology is associated with trunk stability and differs between symptomatic and asymptomatic skiers. STUDY DESIGN Cohort study. LEVEL OF EVIDENCE Level 3. METHODS A total of 85 youth skiers (28 females, mean age, 14.7 ± 0.7 years; 57 males, mean age, 14.9 ± 0.5 years) underwent anthropometric assessments, an estimation of biological maturation, a magnetic resonance imaging- and ultrasound-based examination of LMF morphology, and a biomechanical quantification of deadbug bridging stabilization performance. Athletes were categorized as symptomatic if they had registered at least 1 significant overuse-related back complaint episode in the 12 months before the main examination. RESULTS Male skiers showed a greater LMF size (ie, anatomical cross-sectional area [ACSA]) than female skiers, except for vertebral body L5, where no difference was found (8.8 ± 1.8 cm$^{2}$ vs 8.3 ± 1.4 cm$^{2}$, P = 0.18). Conversely, female skiers displayed longer fascicles than male skiers (5.8 ± 0.8 cm vs 5.4 ± 0.8 cm, P = 0.03). Skiers aged under 16 years (U16) skiers had greater values for LMF size and fascicle length than U15 skiers. Maturity offset was associated with L5 LMF size (R$^{2}$ = 0.060, P = 0.01), fascicle length (R$^{2}$ = 0.038, P = 0.04), and muscle thickness (R$^{2}$ = 0.064, P = 0.02). L5 LMF size was associated with trunk stability (R$^{2}$ = 0.068, P = 0.01). Asymptomatic skiers showed on average a 12.8% greater value for L5 LMF size compared with symptomatic skiers (P = 0.04). CONCLUSION There are sex- and age-related differences in LMF morphology in youth competitive alpine skiers. Moreover, the ACSA at the level of the lumbar vertebral body L5 undergoes changes during biological maturation, shows a small, but significant association with trunk stability, and differs between symptomatic and asymptomatic skiers with back complaints. CLINICAL RELEVANCE The observed association of muscle structure (ie, L5 LMF ACSA) with functional aspects (ie, trunk stabilization capacity) and clinical representation (ie, overuse-related back complaints) further highlights the important role of the multifidus muscle for training and injury prevention in youth competitive alpine skiers around the growth spurt