MCT1 rs1049434 在波兰精英运动员中的传递扭曲。
Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes.
机构信息
Faculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdansk, Poland.
Laboratory of Pharmacogenomics, Department of Molecular Pharmacology, Maj Institute of Pharmacology Polish Academy of Sciences, 31-343 Krakow, Poland.
出版信息
Genes (Basel). 2022 May 12;13(5):870. doi: 10.3390/genes13050870.
BACKGROUND
To date, nearly 300 genetic markers were linked to endurance and power/strength traits. The current study aimed to compare genotype distributions and allele frequencies of the common polymorphisms: rs1049434, rs12594956, rs1052373 and rs1799945 in Polish elite athletes versus nonathletes.
METHODS
The study involved 101 male elite Polish athletes and 41 healthy individuals from the Polish population as a control group. SNP data were extracted from whole-genome sequencing (WGS) performed using the following parameters: paired reads of 150 bps, at least 90 Gb of data per sample with 300 M reads and 30× mean coverage.
RESULTS
All the analyzed polymorphisms conformed to Hardy-Weinberg equilibrium (HWE) in athletes and the control group, except the rs1049434, where allele T was over-represented in the elite trainers' group. No significant between-group differences were found for analyzed polymorphisms.
CONCLUSIONS
The rs1049434 transmission distortion might be characteristic of Polish athletes and the effect of strict inclusion criteria. This result and the lack of statistically significant changes in the frequency of other polymorphisms between the groups might result from the small group size.
背景
迄今为止，已有近 300 个遗传标记与耐力和力量/强度特征相关。本研究旨在比较常见多态性的基因型分布和等位基因频率：波兰精英运动员与非运动员的 rs1049434、rs12594956、rs1052373 和 rs1799945。
方法
该研究涉及 101 名男性波兰精英运动员和 41 名作为对照组的健康个体。SNP 数据是从使用以下参数进行的全基因组测序 (WGS) 中提取的：150 bp 的配对读取，每个样本至少 90 Gb 的数据，300 M 读取和 30×平均覆盖度。
结果
所有分析的多态性在运动员和对照组中均符合 Hardy-Weinberg 平衡 (HWE)，除了 rs1049434，其等位基因 T 在精英训练者中过度表达。在分析的多态性中未发现组间存在显著差异。
结论
rs1049434 的传递偏倚可能是波兰运动员的特征，也是严格纳入标准的结果。这一结果以及组间其他多态性频率没有统计学上的显著变化可能是由于样本量小所致。
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