Identification of New Variants in Genes Related To Muscle Strength in an Elite Weightlifter Using Whole Exome Sequencing: A Case Report

Genetic factors play an important role in athletic performance and its related phenotypes such as strength, power and aerobic capacity. Whole Exome Sequencing (WES) has great potential to explore all possible deoxiribnucleotide (DNA) variants associated with physical performance. However, this new technique has not been used in sports genetics research. Therefore the aim of this case study was to report new variants in genes involved in skeletal muscles strength in an elite weightlifter using WES. After obtaining an informed contest 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 WES method. WES analysis of this elite weightlifter revealed missense mutations (230845794A>G and 230845977G>A) in AGT and (148206440G>A and 148206473G>C) in ADRB2 genes. Results of WES analysis revealed missense mutations in Power/Strength related genes in this elite athlete. However more studies with larger sample sizes are needed to reveal the relationship between these variants and performance of strength athletes.