The effect of COL5A1, GDF5 and PPARA genes on a movement screen and neuromuscular performance in adolescent team sport athletes

Stastny, P, Lehnert, M, De Ste Croix, M, Petr, M, Svoboda, Z, Maixnerova, E, Varekova, R, Botek, M, Petrek, M, Lenka, K, and Cięszczyk, P. Effect of COL5A1, GDF5, and PPARA genes on a movement screen and neuromuscular performance in adolescent team sport athletes. J Strength Cond Res 12XX(2X): 000–000, 2019—The risk of injury increases with adolescents' chronological age and may be related to limited muscle function neuromuscular, genetic, and biomechanical factors. The purpose of this study was to determine whether COL5A1, PPARA, and GDF5 genes are associated with muscle functions and stretch-shortening cycle performance in adolescent athletes. One hundred forty-six youth players (14.4 ± 0.2 years) from various team sports (basketball n = 54, soccer n = 50, handball n = 32) underwent a manual test for muscle function, maturity estimation, functional bend test (FBT), passive straight leg raise (SLR) test, leg stiffness test, test of reactive strength index (RSI), and gene sampling for COL5A1, PPARA, and GDF5. The χ2 test did not show any differences in allele or genotype frequency between participants before and after peak height velocity. Multivariate analysis of variance showed that COL5A1 rs12722 CT heterozygotes had worse score in FBT (p < 0.001), worse score in SLR (p = 0.003), and lower maturity offset (p = 0.029, only in females) than TT homozygotes. Male GDF5 rs143383 GG homozygotes showed better score in SLR than AA and AG genotypes (p = 0.003), and AA and AG genotypes in both sex had greater RSI than GG homozygotes (p = 0.016). The PPARA rs4253778 CC homozygotes had greater RSI than GG and GC genotypes (p = 0.004). The CT genotype in COL5A1 rs12722 is possible predictor of functional movement disruption in the posterior hip muscle chain, causing shortening in FBT and SLR, which includes hamstrings function. CT genotype in COL5A1 rs12722 should be involved in programs targeting hamstring and posterior hip muscle chain

A Genome-Wide Association Study of Sprint Performance in Elite Youth Football Players

Pickering, C, Suraci, B, Semenova, EA, Boulygina, EA, Kostryukova, ES, Kulemin, NA, Borisov, OV, Khabibova, SA, Larin, AK, Pavlenko, AV, Lyubaeva, EV, Popov, DV, Lysenko, EA, Vepkhvadze, TF, Lednev, EM, Leońska-Duniec, A, Pająk, B, Chycki, J, Moska, W, Lulińska-Kuklik, E, Dornowski, M, Maszczyk, A, Bradley, B, Kana-ah, A, Cięszczyk, P, Generozov, EV, and Ahmetov, II. A genome-wide association study of sprint performance in elite youth football players. J Strength Cond Res XX(X): 000-000, 2019-Sprint speed is an important component of football performance, with teams often placing a high value on sprint and acceleration ability. The aim of this study was to undertake the first genome-wide association study to identify genetic variants associated with sprint test performance in elite youth football players and to further validate the obtained results in additional studies. Using micro-array data (600 K-1.14 M single nucleotide polymorphisms [SNPs]) of 1,206 subjects, we identified 12 SNPs with suggestive significance after passing replication criteria. The polymorphism rs55743914 located in the PTPRK gene was found as the most significant for 5-m sprint test (p = 7.7 × 10). Seven of the discovered SNPs were also associated with sprint test performance in a cohort of 126 Polish women, and 4 were associated with power athlete status in a cohort of 399 elite Russian athletes. Six SNPs were associated with muscle fiber type in a cohort of 96 Russian subjects. We also examined genotype distributions and possible associations for 16 SNPs previously linked with sprint performance. Four SNPs (AGT rs699, HSD17B14 rs7247312, IGF2 rs680, and IL6 rs1800795) were associated with sprint test performance in this cohort. In addition, the G alleles of 2 SNPs in ADRB2 (rs1042713 & rs1042714) were significantly over-represented in these players compared with British and European controls. These results suggest that there is a genetic influence on sprint test performance in footballers, and identifies some of the genetic variants that help explain this influence

Anaerobinių pokyčių slenkstis lyginant su galutiniais maksimalaus 2000 m irklavimo ergometru testo rezultatais – Lenkijos nacionalinės irkluotojų komandos 1997–2005 metais atvejis

Ciklinėse ištvermės sporto šakose, prie kurių priskiriamas ir irklavimas, anaerobinio slenksčio (AT 4) indeksas gali būti laikomas patikimu pasirengimo irklavimo sezonui lygio indikatoriumi (Beneke, 2000; Foster, 1995; Messonnier, 1997). Sisteminė indekso kontrolė padeda pastebėti pirmuosius nukrypimo nuo užsibrėžtų pasirengimo tikslų požymius, tai leistų daryti treniruotės plano pakeitimus (Fitts ir kt., 1996; Kraemer ir kt., 2004; Sharkey ir kt., 2006). Darbo tikslas – aptarti anaerobinio slenksčio lygį, kuris buvo nustatomas 1997–2005 metais irkluotojams (n = 16), besirengiantiems pasaulio čempionatui ir olimpinėms žaidynėms. Autoriai gautus duomenis taip pat palygino su 2000 m irklavimo ergometru „Concept II“ simuliacinio testo rezultatais. Straipsnyje pateikti rezultatai rodo, kad tarp AT 4, pasiekto didėjančiomis fizinėmis pastangomis ir 2000 m specialiojo simuliacinio testo metu, yra stiprus tarpusavio ryšysIn cyclical endurance sports disciplines, and rowing is numbered among them, the index of anaerobic threshold (AT 4) may be considered to be a reliable indicator of the level of preparations for a rowing season (Beneke 2000; Foster 1995; Messonnier 1997). Systematic control of the index helps to notice first signs of a deviation from the defined goal of preparations thus enabling to make adjustments to a training plan (Fitts et al., 1996; Kraemer et al., 2004; Sharkey et al., 2006). The purpose of the work is to present the level of anaerobic threshold observed during rowers’ (n=16) preparations for World Championship and the Olympic Games in years 1997-2005. The authors have also compared the above thresholds with the results obtained during the simulation test of 2000 meters on a rowing ergometer “Concept II”. Results presented in the article show that there is a strong correlation between AT 4 power achieved during progressive physical effort and the results of the simulation specialist test of 2000 metersVytauto Didžiojo universitetasŠvietimo akademij

Association Between Total Genotype Score and Muscle Injuries in Top-Level Football Players: a Pilot Study

Abstract Background Recently, genetic predisposition to injury has become a popular area of research and the association between a few single nucleotide polymorphisms (SNPs) and the susceptibility to develop musculoskeletal injuries has been shown. This pilot study aimed to investigate the combined effect of common gene polymorphisms previously associated with muscle injuries in Italian soccer players. Results A total of 64 Italian male top football players (age 23.1 ± 5.5 years; stature 180.2 ± 7.4 cm; weight 73.0 ± 7.9 kg) were genotyped for four gene polymorphisms [ACE I/D (rs4341), ACTN3 c.1729C > T (rs1815739), COL5A1 C > T (rs2722) and MCT1 c.1470A > T (rs1049434)]. Muscle injuries were gathered for 10 years (2009–2019). Buccal swabs were used to obtain genomic DNA, and the PCR method was used to genotype the samples. The combined influence of the four polymorphisms studied was calculated using a total genotype score (TGS: from 0 to 100 arbitrary units; a.u.). A genotype score (GS) of 2 was assigned to the “protective” genotype for injuries, a GS of 1 was assigned to the heterozygous genotype while a GS of 0 was assigned to the “worst” genotype. The distribution of genotype frequencies in the ACE I/D (rs4341), ACTN3 c.1729C > T (rs1815739) and MCT1 c.1470A > T (rs1049434) polymorphisms was different between non-injured and injured football players (p = 0.001; p = 0.016 and p = 0.005, respectively). The incidence of muscle injuries was significantly different among the ACE I/D (rs4341), ACTN3 c.1729C > T (rs1815739) and COL5A1 C > T (rs2722) genotype groups, showing a lower incidence of injuries in the “protective” genotype than “worse” genotype (ACE, p < 0.001; ACTN3, p = 0.005) or intermediate genotype (COL5A1, p = 0.029). The mean TGS in non-injured football players (63.7 ± 13.0 a.u.) was different from that of injured football players (42.5 ± 12.5 a.u., p < 0.001). There was a TGS cut-off point (56.2 a.u.) to discriminate non-injured from injured football players. Players with a TGS beyond this cut-off had an odds ratio of 3.5 (95%CI 1.8–6.8; p < 0.001) to suffer an injury when compared with players with lower TGS. Conclusions These preliminary data suggest that carrying a high number of "protective" gene variants could influence an individual's susceptibility to developing muscle injuries in football. Adapting the training load parameters to the athletes’ genetic profile represents today the new frontier of the methodology of training

Individual Responsiveness to Exercise-Induced Fat Loss and Improvement of Metabolic Profile in Young Women is Associated with Polymorphisms of Adrenergic Receptor Genes

The effectiveness of physical exercise on fat loss and improvement of aerobic capacity varies considerably between individuals. A strong linkage exists between common allelic variants of the adrenergic receptor genes and weight gain, as well as changes in body composition. Therefore we aimed to check if body composition and metabolic variables were modulated by the ADRB2 (Gly16Arg and Glu27Gln), ADRB3 (Trp64Arg) and ADRA2A (rs553668 G/A) gene polymorphisms in 163 Polish sedentary women (age 19-24; body mass index (BMI) 21.7 ± 0.2 kg·m-2) involved in a 12-week aerobic training program. Only 74.8% of participants lost fat mass. On average, participants lost 5.8 (10.4)% of their relative fat mass with training (range: +28.3 to -63.6%). The improvement of VO2max was significantly greater in women who could lose their fat mass compared to women who were unsuccessful in fat loss (4.5 (5.6)% vs. 1.5 (3.8)%; p = 0.0045). The carriers of a low number (0-3) of obesity-related risk alleles (ADRB2 Gly16, ADRB2 Glu27, ADRA2A rs553668 G) were more successful in fat mass loss compared to the carriers of a high number (5-6) of risk alleles (7.7 (9.8) vs 4.0 (9.4)%, p = 0.0362). The presented results support the assumption that variation within adrenergic receptor genes contributes to interindividual changes of body composition in response to physical exercise

Genome-Wide Association Study of Exercise-Induced Fat Loss Efficiency

There is a wide range of individual variability in the change of body weight in response to exercise, and this variability partly depends on genetic factors. The study aimed to determine DNA polymorphisms associated with fat loss efficiency in untrained women with normal weight in response to a 12-week aerobic training program using the GWAS approach, followed by a cross-sectional study in athletes. The study involved 126 untrained young Polish women (age 21.4 &plusmn; 1.7 years; body mass index (BMI): 21.7 (2.4) kg/m2) and 550 Russian athletes (229 women, age 23.0 &plusmn; 4.1; 321 men, age 23.9 &plusmn; 4.7). We identified one genome-wide significant polymorphism (rs116143768) located in the ACSL1 gene (acyl-CoA synthetase long-chain family member 1, implicated in fatty acid oxidation), with a rare T allele associated with higher fat loss efficiency in Polish women (fat mass decrease: CC genotype (n = 122) &minus;3.8%; CT genotype (n = 4) &minus;31.4%; p = 1.18 &times; 10&minus;9). Furthermore, male athletes with the T allele (n = 7) had significantly lower BMI (22.1 (3.1) vs. 25.3 (4.2) kg/m2, p = 0.046) than subjects with the CC genotype (n = 314). In conclusion, we have shown that the rs116143768 T allele of the ACSL1 gene is associated with higher fat loss efficiency in response to aerobic training in untrained women and lower BMI in physically active men

Are IL1B, IL6 and IL6R Gene Variants Associated with Anterior Cruciate Ligament Rupture Susceptibility?

Cytokines, such as interleukins, are crucial in regulating critical cell signaling pathways as well as being major contributors to inflammatory response and are upregulated during ligament and tendon injuries. The genes encoding key interleukins, such as IL1B and IL6 as well as interleukin receptor IL6R, were chosen as candidate genes for association with soft tissue injuries. The aim of the case-control study was to verify the hypothesis that sequence variants rs1143627, rs16944, rs1800795, rs2228145 in the IL1B, IL6 and IL6R genes are associated with ACL rupture susceptibility in a Polish population. Among four analyzed SNPs, the rs1800795 IL6 gene polymorphism was found to be the only one significantly associated with ACL rupture (p = 0.010, p = 0.022, p = 0.004 for codominant, recessive and overdominant models, respectively; odds ratio = 1.74, 95% CI 1.08-2.81, sex adjusted p = 0.032 for recessive model). With reference to the other analyzed polymorphisms, we failed to show significant differences in the genotype and allele frequencies for IL6R rs2228145as well as IL1B rs16944 and rs1143627 (analyzed alone or in haplotype combination) between the ACL rupture group and the healthy control group among Polish participants. Due to the nature of case-control studies, the results of this study need to be confirmed in independent studies with larger sample sizes