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Hand grip strength is a widely used proxy of muscular fitness, a marker of frailty, and predictor of a range of morbidities and all-cause mortality. To investigate the genetic determinants of variation in grip strength, we perform a large-scale genetic discovery analysis in a combined sample of 195,180 individuals and identify 16 loci associated with grip strength (P

This study aimed to investigate the ACTN3 R577X, ACE I/D, CKM rs8111989, and TRHR rs7832552 genotypes in climbers and controls in three ethnicities. The study consisted of 258 climbers (Japanese, n = 100; Polish, n = 128; Russian, n = 30) and 1151 controls (Japanese: n = 332, Polish: n = 635, Russian: n = 184). Genotyping results were analyzed using the TaqMan approach in Japanese and Polish subjects and HumanOmni1-Quad Bead Chips in Russian subjects. There were no significant differences in ACTN3 R577X and ACE I/D polymorphism distribution between climbers and controls in any ethnic cohort or model. The frequencies of the C allele in the CKM polymorphism and the T allele in the TRHR polymorphism were higher in climbers than in controls only in the Russian cohort (p = 0.045 and p = 0.039, respectively). The results of the meta-analysis on three cohorts showed that the frequency of XX + RX genotypes in the ACTN3 R577X polymorphism was significantly higher in climbers than that in the controls (p = 0.01). The X allele of the ACTN3 R577X polymorphism was associated with sport climbing status, as assessed using a meta-analysis of climbers across three different ethnicities. [ABSTRACT FROM AUTHOR]

Promoter polymorphism of the tumor necrosis factor-α (TNF-α) gene is associated with obesityrelated traits, although the role of its potential modifying effect on changes in obesity-related parameters achieved through a training program is still unknown. The aim of the present study was to examine whether the TNF-α-308G/A polymorphism (rs1800629) influences the effects of a training program. Accordingly, we studied the alleles and genotypes distribution in a group of 168 Polish Caucasian women measured for selected body mass and composition, as well as biochemical parameters before and after the realization of a 12-week aerobic training program. Our results showed that TNF-α genotypes can modulate training-induced biochemical parameter changes such as lipid profile. We demonstrated that carriers of the GG genotype are associated with decreases in post-training high-density lipoprotein cholesterol (HDL-C) levels (p<0.001). Additionally, we revealed that participants with the GG genotype had a higher low-density lipoprotein cholesterol (LDL-C) level (p=0.046) during the entire study period. It could be concluded that harboring the GG genotype of rs1800629 may be considered to be a disadvantageous factor in the context of training-induced effects on lipid profile changes in young female participants. [ABSTRACT FROM AUTHOR]

The aim of the present study was to analyse VEGFA rs699947, rs1570360, and rs2010963 polymorphisms with susceptibility to anterior cruciate ligament rupture (ACLR) in a Polish population. The study included 412 physically active Caucasian participants. The study group consisted of 222 individuals with surgically diagnosed primary ACLR qualified for ligament reconstruction (ACLR group). The control group consisted of 190 apparently healthy participants without any history of ACLR (CON group). Three polymorphisms within the VEGFA (rs699947, rs1570360, and rs2010963) gene were chosen for investigation due to their significance in the angiogenesis signalling pathway and previous associations with risk of ACLRs. Both single-locus and haplotype-based analyses were conducted. No significant differences in the allele and genotype frequency distributions were noted for the rs699947 and rs1570360 polymorphisms. In contrast, rs2010963 was associated with risk of ACLR in the codominant (p=0.047) and recessive model (p=0.017). In the latter, the CC genotype was overrepresented among individuals with ACL rupture (23.4% vs 14.2%, OR=1.85 [1.11-3.08]). Two VEGFA haplotypes were associated with ACLR under the additive (global score=11.39, p=0.022) and dominant model (global score=11.61, p=0.020). The [C;G;G] haplotype was underrepresented in the ACLR group (52.2% vs. 60.3%), whereas the [C;G;C] haplotype was overrepresented (2.9% vs 0.5%). The results obtained suggest a potential correlation between the VEGFA rs2010963 polymorphism and ACLR risk, suggesting that harbouring this specific C allele may be an unfavourable risk factor for a knee injury in Caucasian participants from Poland. [ABSTRACT FROM AUTHOR]

Although various intrinsic and extrinsic risk factors for anterior cruciate ligament (ACL) rupture have been identified, the exact aetiology of the injury is not yet fully understood. Type III collagen is an important factor in the repair of connective tissue, and certain gene polymorphisms may impair the tensile strength. The aim of this study was to examine the association of the COL3A1 rs1800255 polymorphism with ACL rupture in Polish male recreational skiers. A total of 321 male Polish recreational skiers were recruited for this study; 138 had surgically diagnosed primary ACL ruptures (ACL-injured group) and 183 were apparently healthy male skiers (control group - CON) who had no self-reported history of ligament or tendon injury. Both groups had a comparable level of exposure to ACL injury. Genomic DNA was extracted from the oral epithelial cells. All samples were genotyped on a real-time polymerase chain reaction instrument. The genotype distribution in the ACL-injured group was significantly different than in CON (respectively: AA=10.1 vs 2.2%, AG=22.5 vs 36.1, GG=67.4 vs 61.8%; p = 0.0087). The AA vs AG+GG genotype of COL3A1 (odds ratio (OR) = 5.05; 95% confidence interval (CI), 1.62-15.71, p = 0.003) was significantly overrepresented in the ACL-injured group compared with CON. The frequency of the A allele was higher in the ACL-injured group (21.4%) compared with CON (20.2%), but the difference was not statistically significant (p=0.72). This study revealed an association between the COL3A1 rs1800255 polymorphism and ACL ruptures in Polish skiers. [ABSTRACT FROM AUTHOR]

Introduction. The variance in human athletic ability is the result of interaction of both genetic and environmental factors. The ADRA2A gene that encodes adrenergic receptors α2 is likely to be a candidate gene because ADRA2A receptors are crucial for precise cardiovascular control and are involved in the regulation of adipocyte lipolysis, glucose metabolism and insulin secretion. Several genetic variants of the ADRA2A gene have been identified, and one nucleotide polymorphism (SNP) rs553668 seems to be of special importance. On the basis of results of available studies it is assumed that the C allele of rs553668 might be associated with the status of Polish elite endurance athletes. Aim of the Study. The purposes of the study were to determine the distribution of the ADRA2A rs553668 SNP genotypes within a sample of Polish elite endurance athletes and sedentary controls to investigate a possible association between genetic polymorphisms in the ADRA2A gene and elite endurance athlete status and to check for an association between the rs553668 genotypes and alleles and the athlete status. Material and Methods. The study was performed on a group of 123 elite Polish endurance-oriented athletes. Control samples were prepared from 228 unrelated, sedentary volunteers. Results. No statistical differences were found between the endurance athletes and the control group across the ADRA2A C/T genotypes. Similarly, no statistical differences among the subgroups of top-elite, elite and sub-elite endurance athletes were observed. Conclusions. We found that the C allele as well as C-containing genotypes were not significantly more frequent in endurance athletes than in controls. This may suggest that harboring the T allele of the SNP rs553668 allele does not decrease the probability of being an endurance-oriented athlete in the Polish population. In respect to the analyzed population of Polish endurance athletes the ADRA2A gene can not be considered a candidate determinant of individual variations in exercise-related phenotypes. [ABSTRACT FROM AUTHOR]

Objectives: The aim of this study was to examine the association of +1245G/T polymorphisms in the COL1A1 gene with ACL ruptures in Polish male recreational skiers in a case-control study. Methods: A total of 138 male recreational skiers with surgically diagnosed primary ACL ruptures, all of whom qualified for ligament reconstruction, were recruited for this study. The control group comprised 183 apparently healthy male skiers with a comparable level of exposure to ACL injury, none of whom had any self-reported history of ligament or tendon injury. DNA samples extracted from the oral epithelial cells were genotyped for the +1245G/T polymorphisms using real-time PCR method. Results: Genotype distributions among cases and controls conformed to Hardy-Weinberg equilibrium (p=0.2469 and p=0.33, respectively). There was a significant difference in the genotype distribution between skiers and controls (p=0.045, Fisher's exact test). There was no statistical difference in allele distribution: OR 1.43 (0.91-2.25), p=0.101 (two-sided Fisher's exact test). Conclusions: The risk of ACL ruptures was around 1.43 times lower in carriers of a minor allele G as compared to carriers of the allele T. [ABSTRACT FROM AUTHOR]