Identification of Single Nucleotide Changes in Genes Associated to Muscle Hypertrophy and Strength in an Elite Weightlifter Using Whole Exome Sequencing: A Case Report

Background & objectives: Over the last couple of decades, research has focused on attempting to understand the genetic influence on sports performance. Whole exome sequencing (WES) has great potential to explore all possible genetic 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 (ACE, NOS3, IGF1R, IL-6) in an elite weightlifter using WES. Methods: After obtaining a written testimony 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 a missense variant (99454613G>A) in IGF1R, 22771156C>T polymorphism in IL-6, 150695726T>C and 150704250C>G polymorphisms in NOS3 and 61573761T>C and 61564052A>G in ACE genes. Conclusion: Results of whole exome sequencing analysis revealed a missense variant and polymorphism in muscle strength and hypertrophy related genes in this elite weightlifter. However, other studies with larger sample sizes are needed to investigate the relationship between these variants and power athlete status.