Association of the ACTN3 Gene’s Single-Nucleotide Variant Rs1815739 (R577X) with Sports Qualification and Competitive Distance in Caucasian Athletes of the Southern Urals

• Published in: Genes 2023-07, Vol.14 (8), p.1512
• Main Authors: Balberova, Olga V., Shnayder, Natalia A., Bykov, Evgeny V., Zakaryukin, Yuri E., Petrova, Marina M., Soloveva, Irina A., Narodova, Ekaterina A., Chumakova, Galina A., Al-Zamil, Mustafa, Asadullin, Azat R., Vaiman, Elena E., Trefilova, Vera V., Nasyrova, Regina F.
• Format: Article
• Language: English
• Subjects: Alleles; Athletes; Biomarkers; Genes; Genetic factors; Genetic testing; Genotype & phenotype; Genotypes; Medical research; Mitochondrial DNA; Musculoskeletal system; Olympic games; Phenotypes; Polymerase chain reaction; Proteins; Research centers; Skeletal muscle; Structure-function relationships; Track & field; White people
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes14081512

An elite athlete’s status is associated with a multifactorial phenotype depending on many environmental and genetic factors. Of course, the peculiarities of the structure and function of skeletal muscles are among the most important characteristics in the context of athletic performance. Purpose: To study the associations of SNV rs1815739 (C577T or R577X) allelic variants and genotypes of the ACTN3 gene with qualification and competitive distance in Caucasian athletes of the Southern Urals. Methods: A total of 126 people of European origin who lived in the Southern Urals region took part in this study. The first group included 76 cyclical sports athletes (speed skating, running disciplines in track-and-field): SD (short distances) subgroup—40 sprinters (mean 22.1 ± 2.4 y.o.); LD (long distances) subgroup—36 stayer athletes (mean 22.6 ± 2.7 y.o.). The control group consisted of 50 healthy nonathletes (mean 21.4 ± 2.7 y.o.). We used the Step One Real-Time PCR System (Applied Biosystems, USA) device for real-time polymerase chain reaction. Results: The frequency of the major allele R was significantly higher in the SD subgroup compared to the control subgroup (80% vs. 64%; p-value = 0.04). However, we did not find any significant differences in the frequency of the R allele between the athletes of the SD subgroup and the LD subgroup (80% vs. 59.7%, respectively; p-value > 0.05). The frequency of the X allele was lower in the SD subgroup compared to the LD subgroup (20% vs. 40.3%; p-value = 0.03). The frequency of homozygous genotype RR was higher in the SD subgroup compared to the control group (60.0% vs. 34%; p-value = 0.04). The R allele was associated with competitive distance in the SD group athletes compared to those of the control group (OR = 2.45 (95% CI: 1.02–5.87)). The X allele was associated with competitive distance in the LD subgroup compared to the SD subgroup (OR = 2.7 (95% CI: 1.09–6.68)). Conclusions: Multiplicative and additive inheritance models demonstrated that high athletic performance for sprinters was associated with the homozygous dominant genotype 577RR in cyclical sports athletes of Caucasian origin in the Southern Urals.