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EFSMA european federation of sports medicine associations
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Romanian Society for Sports Medicine

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"Medicina Sportiva" No.14 - 2008 The 15-th Sports Medicine Balkan Congress


Angelides NS

It is estimated that about 25 – 40 % of the physical performance may be depending on genetic preconditions, whereas the other part is influenced by environmental factors. If interindividual variations in DNA-sequence or diagnostic loci can be identified, they will inform us about the mechanism that regulate a phenotype, also with respect to a variability in physical performance phenotypes. A lot of studies indicate, that there is a certain number of genes which are responsible for differences in the athletic performance capacity, but in the same way for the normal functioning of metabolic pathways and processes which are necessary for a healthy state of an organism. Therefore one can foresee that the use of genetic tests can help to predict performance but on the other hand, such genetic information could also be used to influence life stile habits. There are some DNA-variants that are more or less associated with human performance as ACTN 3, others which are more interrelated to both performance abilities and health aspects or even diseases. For example one of the variants of the apolipoprotein E was shown to be associated with differences in lipid profile, but also with a neurologic disease. A polymorphism in a gene encoding the human bradykinin receptor B 2 is associated with mechanical efficiency during cycling but also with exercise induced cardiac hypertrophy. The ACE polymorphism was shown to be probably responsible for endurance or strength performance, but on the other hand also for developing of pathological cardiac hypertrophy. Another example may be found in the PPARG co-activator 1 α polymorphism which - as a mitochondrial biogenesis factor - may play a role in the lipid and carbohydrate metabolism in way of enhancing endurance performance, but on the other hand with the ability of keeping a weight maintenance or a lower incidence of developing diabetes type II. With some of these examples shown in the presentation it is tried to give a better understanding of the role of some of the polymorphisms interrelating with top athletic performance and the primary and secondary prevention.

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