Identification of new variants in ACTN3, VDR and ADRB1 genes in an elite weightlifter using Whole exome sequencing: A Case Report

Document Type : Research Paper

Authors

1 Department of Exercise Physiology, Faculty of Education Sciences and Psychology, University of Mohaghegh Ardabili, , Iran

2 Department of Exercise Physiology, Faculty of Education Sciences and Psychology, University of Mohaghegh Ardabili, Ardabil, Iran

3 Department of Physical Education and Sport Sciences, Ardabil Branch, Islamic Azad University, Ardabil, Iran

4 Department of Molecular Genetics, Science and Research Branch, Islamic Azad University, Fars, Iran

10.22080/jaep.2021.20776.2014

Abstract

Background and Purpose: Muscle strength and maximal speed are factors determining athlete’s results during competition. The association between ACTN3, VDR and ADRB1 genes with muscle strength has been reported. The aim of this case report was to report new variants in power-related genes in an elite weightlifter using whole exome sequencing.
Methodology: After obtaining a written testimonial participated in this study from a 32-year-old man, who is a member of the Iranian national weightlifting team, 5 cc of blood was taken and then DNA was extracted. DNA samples were analyzed using the whole exome sequencing method.
Results: Whole exome sequencing analysis revealed missense mutations (66327673G>A and 66328095T>C) in ACTN3, (48272895A>G) in VDR and (115805056G>C and 115804036A>G) in ADRB1genes.
Conclusion: Whole exome sequencing analysis of the elite weightlifter revealed new missense mutations in muscle power/strength related gens. However new researches with a larger sample size are required to examine the relationship between these variants and elite athletes’ performance.

Keywords


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