高加索裔南乌拉尔地区运动员的基因单核苷酸变异 rs1815739（R577X）与运动资格和竞技距离的关联。

Association of the Gene's Single-Nucleotide Variant Rs1815739 (R577X) with Sports Qualification and Competitive Distance in Caucasian Athletes of the Southern Urals.

机构信息

Research Institute of Olympic Sports, Ural State University of Physical Culture, 454091 Chelyabinsk, Russia.

Institute of Personalized Psychiatry and Neurology, V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, 192019 St. Petersburg, Russia.

出版信息

Genes (Basel). 2023 Jul 25;14(8):1512. doi: 10.3390/genes14081512.

DOI:10.3390/genes14081512

PMID:37628564

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10454296/

Abstract

UNLABELLED

An elite athlete's status is associated with a multifactorial phenotype depending on many environmental and genetic factors. Of course, the peculiarities of the structure and function of skeletal muscles are among the most important characteristics in the context of athletic performance.

PURPOSE

To study the associations of SNV rs1815739 (C577T or R577X) allelic variants and genotypes of the gene with qualification and competitive distance in Caucasian athletes of the Southern Urals.

METHODS

A total of 126 people of European origin who lived in the Southern Urals region took part in this study. The first group included 76 cyclical sports athletes (speed skating, running disciplines in track-and-field): SD (short distances) subgroup-40 sprinters (mean 22.1 ± 2.4 y.o.); LD (long distances) subgroup-36 stayer athletes (mean 22.6 ± 2.7 y.o.). The control group consisted of 50 healthy nonathletes (mean 21.4 ± 2.7 y.o.). We used the Step One Real-Time PCR System (Applied Biosystems, USA) device for real-time polymerase chain reaction.

RESULTS

The frequency of the major allele R was significantly higher in the SD subgroup compared to the control subgroup (80% vs. 64%; -value = 0.04). However, we did not find any significant differences in the frequency of the R allele between the athletes of the SD subgroup and the LD subgroup (80% vs. 59.7%, respectively; -value > 0.05). The frequency of the X allele was lower in the SD subgroup compared to the LD subgroup (20% vs. 40.3%; -value = 0.03). The frequency of homozygous genotype RR was higher in the SD subgroup compared to the control group (60.0% vs. 34%; -value = 0.04). The R allele was associated with competitive distance in the SD group athletes compared to those of the control group (OR = 2.45 (95% CI: 1.02-5.87)). The X allele was associated with competitive distance in the LD subgroup compared to the SD subgroup (OR = 2.7 (95% CI: 1.09-6.68)).

CONCLUSIONS

Multiplicative and additive inheritance models demonstrated that high athletic performance for sprinters was associated with the homozygous dominant genotype 577RR in cyclical sports athletes of Caucasian origin in the Southern Urals.

摘要

未加标签

精英运动员的状态与多种环境和遗传因素有关，取决于多种环境和遗传因素。当然，骨骼肌肉的结构和功能特点是运动表现的最重要特征之一。

目的

研究 577 号外显子单核苷酸多态性（C577T 或 R577X）等位基因变体以及基因的基因型与南乌拉尔地区白种运动员的资格和竞技距离的相关性。

方法

本研究共纳入 126 名欧洲血统的人，他们居住在南乌拉尔地区。第一组包括 76 名周期性运动运动员（速度滑冰、田径短跑项目）：短距离（SD）亚组-40 名短跑运动员（平均年龄 22.1±2.4 岁）；长距离（LD）亚组-36 名耐力运动员（平均年龄 22.6±2.7 岁）。对照组由 50 名健康的非运动员组成（平均年龄 21.4±2.7 岁）。我们使用 Step One Real-Time PCR System（Applied Biosystems，USA）设备进行实时聚合酶链反应。

结果

与对照组相比，SD 亚组主要等位基因 R 的频率明显更高（80% vs. 64%；-值=0.04）。然而，我们在 SD 亚组运动员和 LD 亚组运动员之间没有发现 R 等位基因频率的任何显著差异（80% vs. 59.7%，-值>0.05）。与 LD 亚组相比，SD 亚组 X 等位基因的频率较低（20% vs. 40.3%；-值=0.03）。与对照组相比，SD 亚组纯合基因型 RR 的频率更高（60.0% vs. 34%；-值=0.04）。与对照组相比，SD 组运动员的 R 等位基因与竞技距离相关（OR=2.45（95%CI：1.02-5.87））。与 SD 亚组相比，X 等位基因与 LD 亚组的竞技距离相关（OR=2.7（95%CI：1.09-6.68））。