Whole genome sequencing of elite athletes
Whole genome sequencing of elite athletes
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DOI：
10.5114/biolsport.2020.96272
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发表时间：
2020-01-01
期刊：
影响因子：
5.6
通讯作者：
Ahmetov, Ildus I.
中科院分区：
文献类型：
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作者：
Boulygina, Eugenia A.;Borisov, Oleg, V;Ahmetov, Ildus I.
全基因组测序（WGS）在探索与运动员身体表现、心理特征和健康状况相关的所有可能的DNA变异方面具有巨大的潜力。本文首次基于20名鞑靼男性摔跤运动员的WGS，对优秀运动员的基因组变异进行了注释。每个样本中单核苷酸多态性（snp）的最大质量变异数超过3.8 M，索引的最大质量变异数约为0.64 M。无义突变的最大数量为每个个体148个单核苷酸变异（snv）。运动员基因组平均每个样本含有18.9个处于纯合状态的无义snp，而非运动员外显子组（鞑靼对照组，n = 19）含有18个无义snp。最后，我们应用基因组数据进行关联分析，并以反应时间（RT）为例。在已知的1884个与RT相关的全基因组显著snp中，我们鉴定出4个与摔跤运动员RT相关的snp （KIF27rs10125715、APCrs518013、TMEM229A rs7783359、LRRN3 rs80054135）。有利等位基因（KIF27 A、APC A、TMEM229A T、LRRN3 T）的累积数量与RT在摔跤运动员（P = 0.0003）和独立队列（n = 43）中均呈显著相关（P = 0.029）。此外，我们发现APC A （53.3 vs 44.0%, P = 0.033）和lrrn3t （7.5 vs 2.8%, P = 0.009）等位基因的频率在精英运动员（n = 107）中显著高于不太成功的运动员（n = 176），这些运动员将RT作为表现的重要组成部分（格斗运动、乒乓球和排球）。与189名对照组（2.9%,P = 0.009）相比，lrrn3t等位基因在优秀运动员中的比例也过高（7.5%）。总之，我们提出了第一个运动员的WGS研究，表明WGS可以应用于体育和运动科学。
Whole genome sequencing (WGS) has great potential to explore all possible DNA variants associated with physical performance, psychological traits and health conditions of athletes. Here we present, for the first time, annotation of genomic variants of elite athletes, based on the WGS of 20 Tatar male wrestlers. The maximum number of high-quality variants per sample was over 3.8 M for single nucleotide polymorphisms (SNPs) and about 0.64 M for indels. The maximum number of nonsense mutations was 148 single nucleotide variants (SNVs) per individual. Athletes' genomes on average contained 18.9 nonsense SNPs in a homozygous state per sample, while non-athletes' exomes (Tatar controls, n = 19) contained 18 nonsense SNPs. Finally, we applied genomic data for the association analysis and used reaction time (RT) as an example. Out of 1884 known genome-wide significant SNPs related to RT, we identified four SNPs (KIF27rs10125715, APCrs518013, TMEM229A rs7783359, LRRN3 rs80054135) associated with RT in wrestlers. The cumulative number of favourable alleles (KIF27 A, APC A, TMEM229A T, LRRN3 T) was significantly correlated with RT both in wrestlers (P = 0.0003) and an independent cohort (n = 43) of physically active subjects (P = 0.029). Furthermore, we found that the frequencies of the APC A (53.3 vs 44.0%, P = 0.033) and LRRN3 T (7.5 vs 2.8%, P = 0.009) alleles were significantly higher in elite athletes (n = 107) involved in sports with RT as an essential component of performance (combat sports, table tennis and volleyball) compared to less successful (n = 176) athletes. The LRRN3 T allele was also over-represented in elite athletes (7.5%) in comparison with 189 controls (2.9%, P = 0.009). In conclusion, we present the first WGS study of athletes showing that WGS can be applied in sport and exercise science.