Genetic polymorphisms in endurance trained athletes - the Genathlete study

Molecular techniques are of increasing impact on medicine and science. We now have evidence for an association between single genes and various aspects of physical activity and performance. In the early 70s twin studies showed that genes play a role in the determination of endurance capacity and maximum oxygen uptake (Vo(2)maX). Today, looking for the relevance for different phenotypes, we are able to identify specific genes and genetic variants. Different approaches are in use including the "candidate gene approach", as well as whole genome analysis to look for the role genes play in physical performance. One of these studies is the Genathlete-study, a typical case-control-study of elite endurance athletes (EEA) and sedentary controls (SC). The EEA cohort consists of 296 Caucasian males with a VO(2)max greater than or equal to 75mL(.)min(-1.)kg(-1). The SC group includes 289 unrelated Caucasians with a measured VO2 max less than or equal to 50mL(.)min(-1.)kg(-1). Different molecular techniques (e.g. southern blotting, PCR, sequencing) are in use to investigate a wide range of genetic polymorphisms. So far, significant association between EEA Status and polymorphisms were seen in the gene encoding for the alpha-2A-adrenergic receptor (ADRA2A), the endothelial nitric oxide synthase (NOS3) and the erythropoietin-receptor (EPOR). No association was seen between EEA status and the angiotensin- converting enzyme gene I/D-polymorphism (ACE I/D) and several other polymorphisms in candidate genes of endurance performance.