title: Key concepts in human genetics: understanding the complex phenotype.
abstract: The recent sequencing of a reference human genome has generated a large number of DNA-based tools, which are being used to locate genes that contribute to disease. These tools have also enabled studies of the genetics of non-disease traits such as athletic fitness. Sport scientists should keep in mind three major factors when designing such studies and interpreting the literature. First of all, the methods used to assign a biological trait (be it performance related or disease related) to a specific gene are not as powerful as is commonly believed. Second, the methods used are thought to be more robust for disease-related traits than for normal physical characteristics, likely because there are many more biological factors contributing to the latter. Third, additional levels of variability continue to be uncovered in the human genome; these may ultimately contribute more to physical differences between human beings than the levels studied over the past decade. This introductory chapter will aim to equip the reader with the necessary vocabulary to understand and interpret genetic studies targeted to sport fitness and sport-related injury.
authors.forename: William T
authors.initials: WT
authors.lastname: Gibson
mesh_terms: D004247:DNA / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013178:Sports Medicine; D020080:Tandem Repeat Sequences
chemical_list: D005819:Genetic Markers; D004247:DNA