运动基因组学的研究进展

Advances in Sports Genomics

目的:回顾目前在理解运动员能力遗传决定论方面的进展,并描述一些新的、重要的、可能成为精英运动员的差异标记的基础的DNA多态性。方法:通过文献综述和归纳分析法对过去几十年运动基因组学的研究进展作了简单的回顾。结果:运用全基因组关联研究(GWAS),在过去几年确定了41种标志物,这表明GWASs是一种有前景、富有成效的研究运动相关表型的方法。结论:未来的研究,包括多中心GWAS和大群运动员的全基因组测序的验证和复制研究,将有助于发现大量能部分解释运动能力和相关表型的遗传力的遗传变异(突变和DNA多态性)。

The main goal of this work was to review the current progress in the understanding of genetic determinism of athlete status and to describe some novel and important DNA polymorphismsthat may underlie differences in the potential to be an elite athlete.Methods:a brief review was made on the progress of sports genomics in the past decades by means of literature review and inductive analysis.Result:41 markers were identified within the past few years by performing genome-wide association studies(GWASs),indicating that GWASs represent a promising and productive way to study sports-related phenotypes.Conclusion:Future research,including multicentre GWASs and whole-genome sequencing in large cohorts of athletes with further validation and replication,will substantially contribute to the discovery of large numbers of the causal genetic variants(mutations and DNA polymorphisms)that would partly explain the heritability of athlete status and related phenotypes.