{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T01:41:59Z","timestamp":1768873319500,"version":"3.49.0"},"reference-count":24,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,7,25]],"date-time":"2023-07-25T00:00:00Z","timestamp":1690243200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>An elite athlete\u2019s 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\u201440 sprinters (mean 22.1 \u00b1 2.4 y.o.); LD (long distances) subgroup\u201436 stayer athletes (mean 22.6 \u00b1 2.7 y.o.). The control group consisted of 50 healthy nonathletes (mean 21.4 \u00b1 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 &gt; 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\u20135.87)). The X allele was associated with competitive distance in the LD subgroup compared to the SD subgroup (OR = 2.7 (95% CI: 1.09\u20136.68)). 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.<\/jats:p>","DOI":"10.3390\/genes14081512","type":"journal-article","created":{"date-parts":[[2023,7,25]],"date-time":"2023-07-25T01:21:27Z","timestamp":1690248087000},"page":"1512","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Association of the ACTN3 Gene\u2019s Single-Nucleotide Variant Rs1815739 (R577X) with Sports Qualification and Competitive Distance in Caucasian Athletes of the Southern Urals"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5513-6384","authenticated-orcid":false,"given":"Olga V.","family":"Balberova","sequence":"first","affiliation":[{"name":"Research Institute of Olympic Sports, Ural State University of Physical Culture, 454091 Chelyabinsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2840-837X","authenticated-orcid":false,"given":"Natalia A.","family":"Shnayder","sequence":"additional","affiliation":[{"name":"Institute of Personalized Psychiatry and Neurology, V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, 192019 St. Petersburg, Russia"},{"name":"Shared Core Facilities Molecular and Cell Technologies, V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, 660022 Krasnoyarsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evgeny V.","family":"Bykov","sequence":"additional","affiliation":[{"name":"Research Institute of Olympic Sports, Ural State University of Physical Culture, 454091 Chelyabinsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuri E.","family":"Zakaryukin","sequence":"additional","affiliation":[{"name":"Research Institute of Olympic Sports, Ural State University of Physical Culture, 454091 Chelyabinsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina M.","family":"Petrova","sequence":"additional","affiliation":[{"name":"Shared Core Facilities Molecular and Cell Technologies, V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, 660022 Krasnoyarsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina A.","family":"Soloveva","sequence":"additional","affiliation":[{"name":"Shared Core Facilities Molecular and Cell Technologies, V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, 660022 Krasnoyarsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6184-9206","authenticated-orcid":false,"given":"Ekaterina A.","family":"Narodova","sequence":"additional","affiliation":[{"name":"Shared Core Facilities Molecular and Cell Technologies, V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, 660022 Krasnoyarsk, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Galina A.","family":"Chumakova","sequence":"additional","affiliation":[{"name":"Department of Therapy and General Medical Practice with a Course of Additional Professional Education, Altai State Medical University, 656038 Barnaul, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3643-982X","authenticated-orcid":false,"given":"Mustafa","family":"Al-Zamil","sequence":"additional","affiliation":[{"name":"Department of Physiotherapy, Faculty of Continuing Medical Education, Peoples\u2019 Friendship University of Russia, 117198 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azat R.","family":"Asadullin","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Addiction, Bashkir State Medical University, 450008 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena E.","family":"Vaiman","sequence":"additional","affiliation":[{"name":"Institute of Personalized Psychiatry and Neurology, V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, 192019 St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera V.","family":"Trefilova","sequence":"additional","affiliation":[{"name":"Institute of Personalized Psychiatry and Neurology, V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, 192019 St. Petersburg, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1874-9434","authenticated-orcid":false,"given":"Regina F.","family":"Nasyrova","sequence":"additional","affiliation":[{"name":"Institute of Personalized Psychiatry and Neurology, V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, 192019 St. Petersburg, Russia"},{"name":"International Centre for Education and Research in Neuropsychiatry, Samara State Medical University, 443016 Samara, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,25]]},"reference":[{"key":"ref_1","first-page":"256","article-title":"Construction of training process of skaters in preparatory period based on physical performance","volume":"2","author":"Oreshkina","year":"2019","journal-title":"Sci. Notes P.F. Lesgaft Univ."},{"key":"ref_2","first-page":"64","article-title":"Candidate genes and single-nucleotide gene variants associated with muscle and tendon injuries in cyclic sports athletes","volume":"1","author":"Balberova","year":"2021","journal-title":"Pers. 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PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0115449"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/8\/1512\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:18:19Z","timestamp":1760127499000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/8\/1512"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,25]]},"references-count":24,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2023,8]]}},"alternative-id":["genes14081512"],"URL":"https:\/\/doi.org\/10.3390\/genes14081512","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,25]]}}}