Wolfarth Bernd, Bray Molly S, Hagberg James M, Pérusse Louis, Rauramaa Rainer, Rivera Miguel A, Roth Stephen M, Rankinen Tuomo, Bouchard Claude
Department of Preventive and Rehabilitative Sports Medicine, Technical University Munich, Munich, Germany.
Med Sci Sports Exerc. 2005 Jun;37(6):881-903.
We began this series in 2000 with the aim of making available in an easily accessible format all the advances on the genetic basis of a large family of exercise-related traits. The current review presents the 2004 update of the human gene map for physical performance and health-related fitness phenotypes. It is based on peer-reviewed papers published by the end of 2004. The genes and markers with evidence of association or linkage with a performance or fitness phenotype in sedentary or active people, in adaptation to acute exercise, or for training-induced changes are positioned on the genetic map of all autosomes and the X chromosome. Negative studies are reviewed but a gene or locus must be supported by at least one positive study before being inserted on the map. One new feature is that we have incorporated the genes whose sequence variants have been associated with either the level of physical activity or indicators of sedentarism. By the end of 2000, in the early version of the gene map, 29 loci were depicted. In contrast, the 2004 human gene map for physical performance and health-related phenotypes includes 140 autosomal gene entries and quantitative trait loci, plus four on the X chromosome. Moreover, there are 16 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Thus, the map is growing in complexity and progress is being made. The number of laboratories and scientists concerned by the role of genes and sequence variations in exercise-related traits is rising. But exercise science and sports medicine is generally lagging behind in terms of utilizing the advances in genetic and genomic technologies.
本系列始于2000年，目的是以易于获取的形式呈现一大类与运动相关性状的遗传基础方面的所有进展。当前的综述展示了2004年人类身体机能及与健康相关的体能表型基因图谱的更新情况。它基于截至2004年底发表的经过同行评审的论文。在久坐或活跃人群中，与身体机能或体能表型存在关联或连锁证据的基因和标记，以及在适应急性运动或训练诱导变化方面的基因和标记，都定位在所有常染色体和X染色体的遗传图谱上。对阴性研究也进行了综述，但一个基因或基因座必须至少有一项阳性研究支持才能被列入图谱。一个新特点是我们纳入了其序列变异与身体活动水平或久坐指标相关的基因。到2000年底，在基因图谱的早期版本中描绘了29个基因座。相比之下，2004年人类身体机能及与健康相关表型的基因图谱包括140个常染色体基因条目和数量性状基因座，以及X染色体上的4个。此外，有16个线粒体基因，其序列变异已被证明会影响相关的体能和身体机能表型。因此，图谱的复杂性在增加，并且正在取得进展。关注基因及序列变异在与运动相关性状中作用的实验室和科学家数量在增加。但在利用遗传和基因组技术进展方面，运动科学和运动医学总体上滞后。
