Williams Alun G, Folland Jonathan P
Institute for Biophysical and Clinical Research into Human Movement, Manchester Metropolitan University, Hassall Road, Alsager, Cheshire, UK.
J Physiol. 2008 Jan 1;586(1):113-21. doi: 10.1113/jphysiol.2007.141887. Epub 2007 Sep 27.
Human physical capability is influenced by many environmental and genetic factors, and it is generally accepted that physical capability phenotypes are highly polygenic. However, the ways in which relevant polymorphisms combine to influence the physical capability of individuals and populations are unknown. Initially, the literature was searched to identify associations between 23 genetic polymorphisms and human endurance phenotypes. Next, typical genotype frequencies of those polymorphisms in the general population were obtained from suitable literature. Using probability calculations, we found only a 0.0005% chance of a single individual in the world having the 'preferable' form of all 23 polymorphisms. As the number of DNA variants shown to be associated with human endurance phenotypes continues to increase, the probability of any single individual possessing the 'preferable' form of each polymorphism will become even lower. However, with population turnover, the chance of such genetically gifted individuals existing increases. To examine the polygenic endurance potential of a human population, a 'total genotype score' (for the 23 polymorphisms) was calculated for each individual within a hypothetical population of 1000 000. There was considerable homogeneity in terms of genetic predisposition to high endurance potential, with 99% of people differing by no more than seven genotypes from the typical profile. Consequently, with population turnover world and Olympic records should improve even without further enhancement of environmental factors, as more 'advantageous' polygenic profiles occasionally, though rarely, emerge. More broadly, human potential appears limited by the similarity of polygenic profiles at both the 'elite sport' and 'chronic disorder' ends of the performance continuum.
人类的身体能力受到许多环境和遗传因素的影响,人们普遍认为身体能力表型具有高度多基因性。然而,相关多态性组合影响个体和人群身体能力的方式尚不清楚。首先,检索文献以确定23种基因多态性与人类耐力表型之间的关联。接下来,从合适的文献中获取这些多态性在普通人群中的典型基因型频率。通过概率计算,我们发现世界上单个个体拥有所有23种多态性的“优选”形式的概率仅为0.0005%。随着与人类耐力表型相关的DNA变异数量不断增加,任何单个个体拥有每种多态性“优选”形式的概率将变得更低。然而,随着人口更替,存在这种具有遗传天赋个体的机会增加。为了研究人类群体的多基因耐力潜力,在一个假设的100万人口群体中,为每个个体计算了一个“总基因型分数”(针对这23种多态性)。在高耐力潜力的遗传易感性方面存在相当大的同质性,99%的人与其典型特征的基因型差异不超过7种。因此,随着全球人口更替,即使环境因素没有进一步改善,世界纪录和奥运会纪录也应该会提高,因为偶尔会出现(尽管很少)更多“有利的”多基因组合。更广泛地说,在表现连续体的“精英运动”和“慢性疾病”两端,多基因组合的相似性似乎限制了人类的潜力。