| Abstract [eng] |
The Lithuanian population, as part of the Northern and Eastern European region, exhibits a distinct genetic structure that may be linked to unique characteristics of physical performance and athletic excellence. This genetic uniqueness can be comprehensively assessed using genome-wide association studies (GWAS), which identify statistically significant associations between genetic variants and specific phenotypic traits. Despite growing interest in sports genetics and precision medicine based on genomic data, no large-scale GWAS targeting elite athletes has been conducted in Lithuania to date. This study aimed to perform a GWAS to identify genetic markers associated with elite athlete status in the Lithuanian population. The cohort included 96 elite Lithuanian athletes (55 males and 41 females) representing endurance and powersprint sports, and a control group of 424 healthy, non-athletic, unrelated individuals (211 males and 213 females). Genomic DNA was extracted from peripheral blood leukocytes using the standard phenol–chloroform–isoamyl alcohol method. Genotyping of athletes was performed using the Illumina Infinium Global Screening Array 24 v3.0, while control group data were obtained from the publicly available LITGEN dataset. A case-control analysis was conducted using PLINK 1.9 software, applying logistic regression to assess associations between 77,607 quality-controlled single nucleotide polymorphisms (SNPs) and the athlete phenotype. The GWAS revealed a statistically significant association between an intergenic SNP (rs4359550) and elite power-sprint athlete status (p < 1.1×10⁻⁷; odds ratio = 7.633). Eight SNPs (rs10957507, rs9453403, rs4359550, rs12485289, rs16873417, rs1347756, rs2001078, rs3213445) showed suggestive associations (p < 5×10⁻⁵) with elite athlete status. Notably, one exonic variant in the CPT1B gene (rs3213445, NM_152246.3:c.196A>G), resulting in an amino acid substitution (p.Ile66Val), emerged as a potential genetic marker due to its possible impact on enzyme activity. CPT1B encodes carnitine palmitoyltransferase 1B, a key mitochondrial enzyme involved in long-chain fatty acid β-oxidation, essential for energy production during endurance exercise. Additionally, three non-coding SNPs (rs9453403, rs16937127, rs16947955) were suggestively associated with endurance athlete phenotype, while two others (rs3776751, rs7195574) were linked to power-speed athlete phenotype. This study identified novel genetic variants associated with elite athletic status in the Lithuanian population. However, further research is needed to validate these findings, including larger athlete cohorts, detailed phenotypic profiling, and cross-population analyses. The results open new avenues for understanding the genetic mechanisms underlying physical performance and may contribute to the development of individualized training strategies aimed at optimizing athletic outcomes and promoting long-term athlete health. |
