Author(s): ANIKEVICIUTE, G., VAIŠNORE, R., GINEVICIENE, V., URNIKYTE, A., Institution: VILNIUS UNIVERSITY, Country: LITHUANIA, Abstract-ID: 2114

INTRODUCTION:
A comprehensive understanding of the genetic factors influencing elite athletic performance is a key to optimizing training strategies and integrating precision-based approaches in sports medicine. This pilot genome-wide association study (GWAS) aimed to identify genetic markers associated with physical performance phenotype of Lithuanian elite athletes.
METHODS:
The study included 96 Lithuanian elite athletes (55 males, 41 females participating in endurance and sprint/power sports) and 424 non-athlete controls (healthy unrelated 211 males, 213 females). Each elite athlete underwent anthropometric and functional assessment of physical performance (grip strength, vertical jump and stair climbing test and maximal oxygen consumption - VO2max). Whole-genome genotyping was performed using Illumina Infinium OmniExpress-24 and Global Screening Array-48 Kits. Chi-squared tests and logistic regression analysis of case/control data were performed using PLINK-1.9 to evaluate the genetic association between 77607 single nucleotide polymorphisms (SNPs) and athletic traits.
RESULTS:
Endurance athletes exhibit significantly higher VO₂max values compared with the sprint/power athletes (p < 0.05), whereas sprint/power athletes demonstrate greater explosive muscle anaerobic power in a single repetition, a higher muscle mass percentage, elevated body mass index (BMI), and increased right- and left-hand grip strength. GWAS results did not reveal any statistically significant associations between SNPs and elite athlete status or phenotypic characteristics (p > 5×10⁻⁸). Nonetheless, eight SNPs demonstrated suggestive significance for elite athlete status (p < 5×10⁻⁵), including three intergenic variants (rs10957507, rs9453403, rs4359550), three intronic variants (rs12485289, rs16873417, rs1347756), one non-coding transcript exon variant (rs2001078) and one missense variant (rs3213445, CPT1B:c.196A>T (p.Ile66Phe)). The CPT1B gene encodes carnitine palmitoyltransferase 1B, a key enzyme in the β-oxidation of long-chain fatty acids within muscle mitochondria—a fundamental aerobic metabolic pathway essential for energy production during endurance-based activities.
CONCLUSION:
Phenotypic analyse confirmed expected physiological differences between elite endurance and sprint/power athletes, reinforcing the importance of muscle metabolism, aerobic capacity, and anaerobic power in athletic specialization. However, further investigations with larger cohorts are required to validate suggestive genetic markers and their implications for performance optimization in elite Lithuanian athletes.