Gibson William T
Med Sport Sci. 2009;54:1-10. doi: 10.1159/000235693. Epub 2009 Aug 17.
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.
近期人类参考基因组的测序产生了大量基于DNA的工具，这些工具正被用于定位导致疾病的基因。这些工具还使得对诸如运动能力等非疾病性状的遗传学研究成为可能。体育科学家在设计此类研究并解读文献时应牢记三个主要因素。首先，将生物性状（无论是与运动表现相关还是与疾病相关）归因于特定基因所使用的方法，其效力并不像人们普遍认为的那样强大。其次，人们认为所使用的方法对于与疾病相关的性状比对正常身体特征更为可靠，这可能是因为有更多生物因素影响后者。第三，人类基因组中不断发现新的变异水平；这些变异最终对人类身体差异的影响可能比过去十年所研究的水平更大。本章引言旨在为读者提供必要的词汇，以理解和解读针对运动能力和运动相关损伤的基因研究。
