Zilberman-Schapira Gili, Chen Jieming, Gerstein Mark
Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.
Recent Pat DNA Gene Seq. 2012 Dec;6(3):180-8. doi: 10.2174/187221512802717367.
Our genes influence our athletic ability. However, the causal genetic factors and mechanisms, and the extent of their effects, remain largely elusive. Many studies investigate this association between specific genes and athletic performance. Such studies have increased in number over the past few years, as recent developments and patents in DNA sequencing have made large amounts of sequencing data available for such analysis. In this paper, we consider four of the most intensively studied genes in relation to athletic ability: angiotensin I-converting enzyme, alpha-actinin 3, peroxismose proliferator-activator receptor alpha and nitric oxide synthase 3. We investigate the connection between genotype and athletic phenotype in the context of these four genes in various sport fields and across different ethnicities and genders. We do an extensive literature survey on these genes and the polymorphisms (single nucleotide polymorphisms or indels) found to be associated with athletic performance. We also present, for each of these polymorphisms, the allele frequencies in the different ethnicities reported in the pilot phase of the 1000 Genomes Project - arguably the largest human genome-sequencing endeavor to date. We discuss the considerable success, and significant drawbacks, of past research along these lines, and propose interesting directions for future research.
我们的基因会影响我们的运动能力。然而,因果遗传因素和机制及其影响程度在很大程度上仍不明确。许多研究探讨了特定基因与运动表现之间的这种关联。在过去几年中,此类研究的数量有所增加,因为DNA测序的最新进展和专利使得大量测序数据可用于此类分析。在本文中,我们考虑了与运动能力相关的四个研究最为深入的基因:血管紧张素I转换酶、α-辅肌动蛋白3、过氧化物酶体增殖物激活受体α和一氧化氮合酶3。我们在各种运动领域以及不同种族和性别的背景下,研究这四个基因的基因型与运动表型之间的联系。我们对这些基因以及发现与运动表现相关的多态性(单核苷酸多态性或插入缺失)进行了广泛的文献调查。我们还给出了千人基因组计划试点阶段报告的不同种族中这些多态性的等位基因频率,千人基因组计划可以说是迄今为止最大的人类基因组测序项目。我们讨论了过去这方面研究取得的显著成功以及重大缺陷,并提出了未来研究的有趣方向。