Genetic research in modern sport

Sport genomics is a comparatively new scientific discipline concentrating on the organization and functioning of the genome of elite athletes. It seems to be the most promising tool for sport selection, individualization of the training process, sport traumatology, and also in illegal ‘gene doping’. With genotyping more available, research of gene variants’ influence on several phenotype traits related to physical performance have been widely carried out worldwide. This review not only summarizes the current findings of sport genomics study of molecular markers, their association with athlete status and training responses, but it also explores future trends and possibilities. The importance of genetics in modern sport increases every year. However, the recent studies still represent only the first steps towards a better understanding of the genetic factors that influence human physical abilities, and therefore continuing studies are necessary

The Angiotensin Converting Enzyme Gene I/D Polymorphism in Polish Rowers

Angiotensin converting enzyme gene (ACE) is the most frequently investigated genetic marker in the context of genetic conditioning of athletic predispositions. The product of the gene is a key component of the renin-angiotensin system (RAS) and the kallikrein-kinin system (KKS), mainly responsible for the regulation of blood pressure. The main aim of the study was to determine the possible interaction between the ACE I/D polymorphism and endurance athlete status in a group of Polish rowers in comparison with sedentary individuals. 121 male Polish rowers, members of academic sports clubs, and 115 unrelated volunteers, were recruited for the study. The PCR amplification of the insertion (I) or deletion (D) fragment of the ACE gene was performed. Compared with control group, the frequency of the I allele differ significantly from that found in rowers (57.4% vs. 44.3%; P=0.013) and the ACE genotype frequency amongst the whole cohort of rowers (30.6% II, 53.7% ID, 15.7% DD) was also different from expected values (control group 19.1% II, 50.4% ID, 30.4% DD; P=0.017). Our investigation confirms a positive association of the I allele of the ACE gene with endurance athlete status in a group of Polish rower

FABP2 Ala54Thr Polymorphism and Post-Training Changes of Body Composition and Biochemical Parameters in Caucasian Women

The functional FABP2 Ala54Thr polymorphism (rs1799883) is strongly associated with lipid and carbohydrate metabolism, although the function of its potential modifying effect on training-induced changes in obesity-related parameters is still unknown. The aim of the present study was to investigate the influence of the Ala54Thr polymorphism on post-training changes of selected body mass and body composition measurements, as well as with biochemical parameters of energy metabolism. Accordingly, alleles and genotypes distribution in a group of 168 young, nonobese Caucasian women measured for chosen body composition parameters, lipid profile, and glucose levels before and after the completion of a 12-week aerobic training program were studied. Although the obtained results showed changes in body mass, BMI, FM, %FM, FFM, TBW, HDL-C, and glucose levels during the training program, none of the examined parameters changed significantly across the FABP2 genotypes. Instead, we found a main effect of genotype on BMI (p = 0.033), with carriers of the Thr54 allele having a higher BMI during the whole study period compared with the Ala54 carriers. We confirm that the FABP2 Ala54Thr polymorphism may help identify women at risk for overweight and obesity. However, we did not notice evidence of an interaction between physical activity and the Ala54Thr polymorphism on the examined parameters

The -9/+9 polymorphism of the bradykinin receptor beta 2 gene and athlete status: A study involving two European cohorts.

Background: Previous studies concerning the relevance of the BDKRB2 gene polymorphisms revealed that the absence (–9 allele) of a 9 base pair sequence in exon 1 of the BDKRB2 gene is correlated with higher skeletal muscle metabolic efficiency, glucose uptake during exercise, as well as endurance athletic performance. Aim: The aim of the study was to investigate the association between the BDKRB2 -9/+9 polymorphism and elite athletic status in two cohorts of east-European athletes. Therefore, we examined the genotype distribution of the BDKRB2 9/+9 polymorphic site in a group of Polish athletes and confirmed the results obtained in a replication study of Russian athletes. Methods: Three hundred and two Polish athletes and 684 unrelated sedentary controls as well as 822 Russian athletes and 507 unrelated sedentary volunteers were recruited for this study. All samples were genotyped for the -9/+9 polymorphism within exon 1 of the BDKRB2 gene using a polymerase chain reaction (PCR). Significance was assessed by χ2 analysis with Bonferroni\u27s correction for multiple testing. Results: We have not found any statistical difference in the -9/+9 genotype and allele frequencies in two groups of athletes divided into four subgroups, i.e. endurance, sprint-endurance, sprint-strength and strength athletes, when compared with controls. There weren\u27t any significant differences found in allele frequencies (P = 0.477) and genotype distribution (P = 0.278) in the initial and replication studies. Conclusion: No association was found between the BDKRB2 -9/+9 polymorphism and elite athletic status in two cohorts of east- European athlete

Effect of 12-week-long aerobic training programme on body composition, aerobic capacity, complete blood count and blood lipid profile among young women

Background: Numerous data suggest that aerobic-type exercise improves lipoprotein-lipid profiles, cardiorespiratory fitness and body composition in young women. The aim of this study was to evaluate the biological response to high-low impact aerobic fitness among young women. Materials and methods: Thirty-four young women aged 22 (19-24) years were divided into three groups: underweight (N = 10), normal weight (N = 12) and overweight (N = 12). Aerobic capacity, anthropometry and body composition together with complete blood count and lipid profile were determined before and after completion of a 12-week-long training period. Results: The training programme caused a significant decrease in weight (by 4.3 kg, P = 0.003), body mass index (by 1.3 kg/m2, P = 0.003), free fat mass (by 2.1 kg, P = 0.002), total body water (by 0.4 kg, P = 0.036), percentage of fat (by 3 percent points, P = 0.002), all analyzed skinfolds thicknesses, as well as the lipid profile in overweight group, and no changes in normal weight group. Significant changes in weight (by 4.2 kg, P = 0.005), body mass index (by 0.9 kg/m2, P = 0.005), crus skinfold thickness (by 3.3 mm, P = 0.028), and in maximum oxygen uptake (by 2.49 mL/kg/min; P = 0.047) were observed among underweight women. No change in total blood count was observed in all groups. Conclusion: Twelve-week-long fitness training programme of two alternating styles (low and high impact) has a beneficial effect on overweight young wome

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

Molecular Identification of Free-living Amoebae Isolated from Artificial Water Bodies Located in Poland

Free living amoebae (FLA) are amphizoic protozoa that are widely found in various environmental sources. They are known to cause serious human infections, including a fatal encephalitis, a blinding keratitis, and pneumonia. The main aim of the study was detection and molecular identification of Acanthamoeba spp., Naegleria fowleri, Balamuthia mandrillaris, Sappinia pedata, and Vermoamoeba vermiformis (formerly Hartmannella vermiformis) in artificial water bodies in North-Western Poland. We examined 86 water samples collected during 2-year period from 43 water bodies, including outdoor and indoor swimming pools, firefighting reservoirs, fountains, as well as water network. The samples were filtrated using Filta-Max® membrane filters (IDEXX Laboratories, USA) and, in order to select potentially pathogenic, thermophilic strains and to limit the number of PCR examined samples, the thermal tolerance test was carried out. Obtained filtrates were transferred to non-nutrient agar plates with E. coli. The agar plates were incubated at 37°C and then proliferated amoebae were passaged at 42°C. DNA was extracted from the thermophilic trophozoites and then polymerase chain reactions and sequence analysis were performed for molecular identification of FLA. From the 86 collected water samples 57 strains of FLA were able to proliferate at 37°C and 7 of them showed ability to proliferate at 42°C. For molecular identification of Acanthamoeba spp. and V. vermiformis, regions of 18S rDNA were amplified. In order to detect B. mandrillaris DNA, we used mitochondrial 16S rDNA as a marker, and for detection of N. fowleri and S. pedata – ITS regions. Based on molecular analysis, isolates were classified to the genus Acanthamoeba (T4 and T11 genotypes, as well as the new genotypes detected earlier in clinical samples and named T16) and V. vermiformis species. Detected strains were highly similar or identical to pathogenic strains detected earlier in patients. Our results show a wide distribution of potential pathogenic FLA, as Acanthamoeba T4, T11, T16 genotypes, and V. vermiformis species in various artificial water bodies located in North-Western Poland and suggest a potential threat to health of humans in this part of the country