Rankinen Tuomo, Bray Molly S, Hagberg James M, Pérusse Louis, Roth Stephen M, Wolfarth Bernd, Bouchard Claude
Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA 70808-4124, USA.
Med Sci Sports Exerc. 2006 Nov;38(11):1863-88. doi: 10.1249/01.mss.0000233789.01164.4f.
The current review presents the 2005 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 2005. 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. By the end of 2000, in the early version of the gene map, 29 loci were depicted. In contrast, the 2005 human gene map for physical performance and health-related phenotypes includes 165 autosomal gene entries and QTL, plus five others on the X chromosome. Moreover, there are 17 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Thus, the map is growing in complexity. Unfortunately, progress is slow in the field of genetics of fitness and performance, primarily because the number of laboratories and scientists focused on the role of genes and sequence variations in exercise-related traits continues to be quite limited.
本综述介绍了2005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2005年底发表的经同行评审的论文。与久坐或运动人群的身体机能或体能表型、对急性运动的适应性或训练引起的变化存在关联或连锁证据的基因和标记，被定位在所有常染色体和X染色体的基因图谱上。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。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，2005年人类身体机能及与健康相关表型的基因图谱包括165个常染色体基因条目和数量性状基因座，以及X染色体上的另外5个。此外，有17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，该图谱的复杂性在不断增加。不幸的是，体能和身体机能遗传学领域的进展缓慢，主要是因为专注于基因和序列变异在运动相关性状中作用的实验室和科学家数量仍然相当有限。
