Genetics and exercise: an introduction

This chapter deals with the fundamental biological basis of inheritance of relevance to exercise genomics. The field of genetic epidemiology relies on twins, nuclear families and other relatives by descent or by adoption to evaluate the extent to which sport- and exercise-related traits and their responses to exercise training are inherited. Nuclear and mitochondrial DNA drive the genetic transmission of biological characteristics across generations. The key features of the DNA molecule, the transmission of genetic information from DNA to RNA and protein, and the human genome are described with an emphasis on how they may influence complex exercise-related traits. The major types of DNA sequence variants that may influence biological functions, and partly explain individual differences, are defined and illustrated. The scientific challenges to be met in order to define the true genomic and molecular basis of exercise-related phenotypes are highlighted. Finally, topics of practical importance such as genetic testing for talent selection and gene doping are briefly discussed.