Elena Godina, Nikita Khromov-Borisov, Elvira Bondareva
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引用次数: 0
摘要
背景:运动遗传学/基因组学的主要目标是根据个体遗传特征预测运动成功与否(运动天赋)。通常,速度-力量运动或耐力运动易感性的标记是 DNA 各部分的单核苷酸变异。研究最多的变异之一是 ACTN3 基因中的 C/T 变异。有关该变异与各种运动成功率之间关系的累积数据足以进行荟萃分析。本综述的目的是以 ACTN3 基因的 C > T 变体(rs1815739)为例,分析有关遗传易感性分子遗传标记的文献数据对取得优异运动成绩的预后作用:正文:共有 42 项研究被纳入分析,总人数为 41 054 人(其中运动员组 10 442 人,对照组 30 612 人)。对于纳入分析的每项研究,均检测了基因型频率与哈代-温伯格平衡的一致性,以及是否存在杂合子过多或过少的情况。对总体效应大小(OR-比率)的预测区间进行了估算。在运动员亚组和对照组中,均发现 FIS 与零存在显著差异,这表明存在近亲繁殖或远亲繁殖,而且 FIS 的 95% CI 非常宽。对显性、隐性和隐性遗传模式进行了荟萃分析。所获得的 ORs 及其 95% CIs 在几乎可以忽略不计的范围内,或具有非常宽的 CIs。对隐性遗传模式的评估显示,其 OR 的 95% PI 介于 0.74 至 1.92 之间。从统计学角度看,它与零无差别,这意味着在与本分析类似的研究中,约 95% 的真实效应大小将落在这一区间内:尽管人们曾多次尝试找出与精英体育成功相关的遗传变异,但这方面的进展仍然微不足道。因此,没有发现 ACTN3 基因的 C > T 变体可作为可靠的预后标志物,用于评估个人取得优异运动成绩的倾向。本荟萃分析的结果支持这样的结论,即从进化或适应的角度来看,中性基因多态性并不是一种可以在体育运动中被选择或用作预测工具的特征。
Prediction of success in sports based on assumed individual genetic predisposition: lack of association with the C > T variant in the ACTN3 gene.
Background: Prediction of sports success (sports talent) based on individual genetic characteristics is the main goal of sports genetics/genomics. Most often, markers of predisposition to speed-strength sports, or endurance, are single-nucleotide variants in various parts of DNA. One of the most studied variants is the C/T variant in the ACTN3 gene. The accumulated data on the association of this variant with success in various sports is sufficient to conduct a meta-analysis. The purpose of the present review is to analyze the prognostic utility of the data presented in the literature on molecular genetic markers of genetic predisposition to achieve outstanding sports results using the example of the C > T variant of ACTN3 (rs1815739).
Main body: A total of 42 studies were included in the analysis, with a total number of 41,054 individuals (of which 10,442 were in the athlete group and 30,612 in the control group). For each study included in the analysis, the agreement of genotype frequencies with Hardy-Weinberg equilibrium was tested, as well as the presence of an excess or deficit of heterozygotes. Prediction intervals for the overall effect size (OR-odds ratio) was estimated. Both in the subgroups of athletes and controls, a significant difference FIS from zero was found, suggesting inbreeding or outbreeding, as well as a very wide 95% CI for FIS. A meta-analysis was conducted for dominant, codominant, and recessive inheritance models. The obtained ORs and their 95% CIs were in the range of almost negligible values or have very wide CIs. The evaluation for the recessive model showed 95% PI for the OR lies between 0.74 to 1.92. Statistically, it does not differ from zero, which means that in some 95% of studies comparable to those in the analysis, the true effect size will fall in this interval.
Conclusion: Despite numerous attempts to identify genetic variants associated with success in elite sports, progress in this direction remains insignificant. Thus, no sports or sports roles were found for which the C > T variant of the ACTN3 gene would be a reliable prognostic marker for assessing an individual predisposition to achieve high sports performance. The results of the present meta-analysis support the conclusion that neutral gene polymorphism-from evolutionary or adaptive point of view-is not a trait that can be selected or used as a predictive tool in sports.
期刊介绍:
Journal of Physiological Anthropology (JPA) is an open access, peer-reviewed journal that publishes research on the physiological functions of modern mankind, with an emphasis on the physical and bio-cultural effects on human adaptability to the current environment.
The objective of JPA is to evaluate physiological adaptations to modern living environments, and to publish research from different scientific fields concerned with environmental impact on human life.
Topic areas include, but are not limited to:
environmental physiology
bio-cultural environment
living environment
epigenetic adaptation
development and growth
age and sex differences
nutrition and morphology
physical fitness and health
Journal of Physiological Anthropology is the official journal of the Japan Society of Physiological Anthropology.