Genetic Aspects - Prof. Wolfarth

Invited Session at ECSS MetropolisRuhr 2017 "The Individual Human Phenotype - Effects of Genetics, Epigenetics, Exercise and Nutrition" Genetic Aspects Wolfarth, B. Humboldt University / Charité Universitymedicine A body of literature indicates that genes play an important role in the determination of performance. In early publications, family studies showed a significant familial aggregation for e.g. endurance measures like maximal oxygen uptake (VO2max), with heritability levels up to 50% (Bouchard et al. 1986). In addition, twin studies suggested that the heritability could even be higher (Maes et al. 1996). For trainability levels of different endurance performance phenotypes a wide range of increase from about 5 60% of the initial level is described (Bouchard et al. 1998). There is no doubt that genes are involved and account for differences in baseline as well as trainability levels of performance traits. Progress in molecular genetic techniques gave us molecular markers to seek specific genes and polymorphic variations and to determine their implications for endurance and other performance related phenotypes. The major aim of this review is to conclude the current status of science with a specific focus on different types of genetic markers in conjunction with performance phenotypes. The idea is to summarize the important findings thus far. The review will focus on the genes and markers that were found to be significantly associated with performance and were either replicated in independent studies or were generated from large, robust cohorts. Finally, the review will include a future perspective on that topic. The impact of genetic research in this field is likely to be significant as it should provide new insights into the physiology and pathways responsible for extraordinary performance achievements and trainability of individuals. It can make major contributions to understand the physiological basis for performance and training response patterns in humans. In addition, such findings will have practical implications in several associated fields including promising directions, such as the medical benefits of exercise in the context of preventive and rehabilitative medicine.