BackgroundStudies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. Aim: To examine the association between ACTN3 R577X and ACE I/D genotypes and best personal running times in a large homogeneous cohort of endurance runners.MethodsWe collected a total of 1064 personal best 1500, 3000, 5000 m and marathon running times of 698 male and female Caucasian endurance athletes from six countries (Australia, Greece, Italy, Poland, Russia and UK). Athletes were genotyped for ACTN3 R577X and ACE ID variants.ResultsThere was no association between ACTN3 R577X or ACE I/D genotype and running performance at any distance in men or women. Mean (SD) marathon times (in s) were for men: ACTN3 RR 9149 (593), RX 9221 (582), XX 9129 (582) p = 0.94; ACE DD 9182 (665), ID 9214 (549), II 9155 (492) p = 0.85; for women: ACTN3 RR 10796 (818), RX 10667 (695), XX 10675 (553) p = 0.36; ACE DD 10604 (561), ID 10766 (740), II 10771 (708) p = 0.21. Furthermore, there were no associations between these variants and running time for any distance in a sub-analysis of athletes with personal records within 20% of world records.ConclusionsThus, consistent with most case-control studies, this multi-cohort quantitative analysis demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance. For ACE II genotype, some prior studies show an association but others do not. Our data indicate it is also unlikely that ACE II genotype provides an advantage in endurance running.

Background: The peroxisome proliferator-activated receptors (PPARA, PPARG, PPARD) and their transcriptional coactivators’ (PPARGC1A, PPARGC1B) gene polymorphisms have been associated with muscle morphology, oxygen uptake, power output and endurance performance. The purpose of this review is to determine whether the PPARs and/or their coactivators’ polymorphisms can predict the training response to specific training stimuli. Methods: In accordance with the Preferred Reporting Items for Systematic Reviews and Meta Analyses, a literature review has been run for a combination of PPARs and physical activity key words. Results: All ten of the included studies were performed using aerobic training in general, sedentary or elderly populations from 21 to 75 years of age. The non-responders for aerobic training (VO2peak increase, slow muscle fiber increase and low-density lipoprotein decrease) are the carriers of PPARGC1A rs8192678 Ser/Ser. The negative responders for aerobic training (decrease in VO2peak) are carriers of the PPARD rs2267668 G allele. The negative responders for aerobic training (decreased glucose tolerance and insulin response) are subjects with the PPARG rs1801282 Pro/Pro genotype. The best responders to aerobic training are PPARGC1A rs8192678 Gly/Gly, PPARD rs1053049 TT, PPARD rs2267668 AA and PPARG rs1801282 Ala carriers. Conclusions: The human response for aerobic training is significantly influenced by PPARs’ gene polymorphism and their coactivators, where aerobic training can negatively influence glucose metabolism and VO2peak in some genetically-predisposed individuals.

Athletic performance is a multifactorial phenotype influenced by environmental factors as well as multiple genetic variants. Different genetic elements have a great influence over components of athletic performance such as endurance, strength, power, flexibility, neuromuscular coordination, psychological traits and other features important in sport. The current literature review revealed that to date more than 69 genetic markers have been associated with power athlete status. For the purpose of the present review we have assigned all genetic markers described with reference to power athletes status to seven main groups: 1) markers associated with skeletal muscle structure and function, 2) markers involved in the inflammatory and repair reactions in skeletal muscle during and after exercise, 3) markers involved in blood pressure control, 4) markers involved in modulation of oxygen uptake, 5) markers that are regulators of energy metabolism and cellular homeostasis, 6) markers encoding factors that control gene expression by rearrangement of chromatin fibers and mRNA stability, and 7) markers modulating cellular signaling pathways. All data presented in the current review provide evidence to support the notion that human physical performance may be influenced by genetic profiles, especially in power sports. The current studies still represent only the first steps towards a better understanding of the genetic factors that influence power-related traits, so further analyses are necessary before implementation of research findings into practice.

a b s t r a c tObjectives: To investigate the role of inter-individual variations in a particular glycoprotein, TNC, and its potential contribution to anterior cruciate ligament (ACL) injury susceptibility in Polish Caucasian participants. ACL rupture is one of the most prevalent and severe knee injury that predominantly occurs during sports participation, primarily via a non-contact mechanism. Several polymorphisms in genes encoding glycoproteins either independently or as allelic combinations, modulate the risk of musculoskeletal soft tissue injuries. Specifically, the TNC rs1330363 (C > T), rs2104772 (T > A) and rs13321 (G > C) variants, independently or in haplotype combinations, were analysed in this context. Design: Case-control genetic association study. Methods: A group of 421 physically active, unrelated participants were recruited where 229 individuals with surgically diagnosed primary ACL rupture and 192 apparently healthy participants without any history of ACL injuries. Participants were genotyped for the above variants. Results: Genotype and allele frequencies of TNC variants did not differ between cases and controls. Haplotype analysis revealed no association between TNC and predisposition to ACL rupture. Conclusions: Our analyses did not reveal a significant association between these TNC variants and risk of ACL rupture in Polish Caucasian participants.

No abstract