ВЛИЯНИЕ ГЕНЕТИЧЕСКИХ ВАРИАНТОВ НА ФОРМИРОВАНИЕ ФИЗИЧЕСКИХ КАЧЕСТВ, СПОСОБСТВУЮЩИХ ДОСТИЖЕНИЮ ВЫСОКИХ РЕЗУЛЬТАТОВ В СПОРТЕ
Аннотация
Цель: провести анализ научной литературы по проблеме влияния наследственности на формирование физических качеств, способствующих достижению высоких результатов в спорте, выявить и описать наиболее перспективные прогностические маркеры. Материалы и методы. Поиск научных материалов проводился с 2020 по 2025 г. в базах данных PubMed, Google Scholar, Scopus, Mendeley, eLibrary. Стратегия поиска была сформирована путем комбинирования ключевых слов sport genetics и polymorphisms. В анализ включены оригинальные исследования, систематические обзоры и метаанализы. Результаты. Установлено, что наследственные факторы определяют до 66 % различий в спортивном статусе. Наиболее значимые генетические варианты связаны с ключевыми физическими качествами. Выносливость ассоциирована с аллелями гена ACE (I), PPARA (G), PPARGC1A (Gly), CDKN1A (A); силовые показатели связаны с вариантами генов АСЕТ3 (С/R), MCT1 (A), CDKN1A (C), LRPPRC (A), а гибкость коррелирует с полиморфизмами в генах ACTN3 (T), COL1A1 (C), ESR1 (C). Наиболее убедительные данные о связи с успехами в спорте получены для генов ACTN3, ACE, PPARGC1A, PPARA и NOS3. Выявлены противоречия в интерпретации полиморфизмов (ACTN3 XX) и популяционные особенности распределения аллелей. Также выявлена потенциальная связь отдельных вариантов (гены MCT1, NOS3, ACTN3) с риском спортивного травматизма. Заключение. Генетические факторы вносят существенный вклад в формирование фенотипа спортсмена. Анализ комбинаций полиморфизмов (суммарный генетический балл) представляет собой перспективный инструмент для прогнозирования спортивного потенциала. Для внедрения генетического тестирования в практику спортивного отбора и тренировочного процесса необходимы дальнейшие крупномасштабные многонациональные исследования.
Литература
2. Ahmetov I.I., Hall E.C.R., Semenova E.A. et al. Advances in Sports Genomics. Advances Clin Chem., 2022, vol. 107, pp. 215–263. DOI: 10.1016/bs.acc.2021.07.004
3. Bıçakçı B., Cięszczyk P., Humińska-Lisowska K. Genetic Determinants of Endurance: A Narrative Review on Elite Athlete Status and Performance. International Journal Mol Science, 2024, vol. 25 (23), 13041. DOI: 10.3390/ijms252313041
4. Bottura R.M., Dentillo D.B. Genomic Information in the Decision-making Process for the Training of a High-performance Brazilian Swimmer: a Case Report. Front Genet, 2025, vol. 16, 1544178. DOI: 10.3389/fgene.2025.1544178
5. El Ouali E.M., Barthelemy B., Del Coso J. et al. A Systematic Review and Meta-analysis of the Association Between ACTN3 R577X Genotypes and Performance in Endurance Versus Power Athletes and Non-athletes. Sports Med Open, 2024, vol. 10 (1), p. 37. DOI: 10.1186/s40798-024-00711-x
6. Ferreira C.P., Silvino V.O., Trevisano R.G. et al. Influence of Genetic Polymorphism on Sports Talent Performance Versus Non-athletes: a Systematic Review and Meta-analysis. BMC Sports Science Med Rehabilitation, 2024, vol. 16 (1), p. 223. DOI: 10.1186/s13102-024-01001-5
7. Gasser B., Dössegger A., Giraud M.N., Flück M. T-Allele Carriers of Mono Carboxylate Transporter One Gene Polymorphism rs1049434 Demonstrate Altered Substrate Metabolization during Exhaustive Exercise. Genes (Basel), 2024, vol. 15 (7), p. 918. DOI: 10.3390/genes15070918
8. Ginevičienė V., Jakaitienė A., Utkus A. et al. CKM Gene rs8111989 Polymorphism and Power Athlete Status. Genes (Basel), 2021, vol. 12 (10), p. 1499. DOI: 10.3390/genes12101499
9. Guilherme J.P.L.F., Bosnyák E., Semenova E.A. et al. The MCT1 Gene Glu490Asp Polymorphism (rs1049434) is Associated with Endurance Athlete Status, Lower Blood Lactate Accumulation and Higher Maximum Oxygen Uptake. Biology Sport, 2021, vol. 38 (3), pp. 465–474. DOI: 10.5114/biolsport.2021.101638
10. Huang M., Claussnitzer M., Saadat A. et al. Engineered Allele Substitution at PPARGC1A rs8192678 Alters Human White Adipocyte Differentiation, Lipogenesis, and PGC-1α Content and Turnover. Diabetologia, 2023, vol. 66 (7), pp. 1289–1305. DOI: 10.1007/s00125-023-05915-6
11. Kikuchi N., Moreland E., Homma H. et al. Genes and Weightlifting Performance. Genes (Basel), 2021, vol. 13 (1), p. 25. DOI: 10.3390/genes13010025
12. Kumagai H., Kaneko T., Shintake Y. et al. Genetic Polymorphisms Related to Muscular Strength and Flexibility are Associated with Artistic Gymnastic Performance in the Japanese Population. European Journal Sport Science, 2023, vol. 23 (6), pp. 955–963. DOI: 10.1080/17461391.2022.2078741
13. Łosińska K.W., Cięszczyk P., Ghiani G., Maszczyk A. Effect Size and Replicability in Ge-netic Studies of Athletic Performance: A Meta-Analytical Review. Genes (Basel), 2025, vol. 16 (9), p. 1040. DOI: 10.3390/genes16091040
14. Marques I.S., Tavares V., Vieira Neto B. et al. Genetic Variations in Susceptibility to Traumatic Muscle Injuries and Muscle Pain among Brazilian High-Performance Athletes. International Journal Mol Science, 2024, vol. 25 (6), p. 3300. DOI: 10.3390/ijms25063300
15. Mijaica R., Tohănean D.I., Alexe D.I., Balint L. Physical Performance and Sports Genetics: A Systematic Review of Candidate Gene Polymorphisms Involved in Team Sports. Genes (Basel), 2025, vol. 16 (9), p. 1079. DOI: 10.3390/genes16091079
16. Murray B., Rosenbloom C. Fundamentals of Glycogen Metabolism for Coaches and Athletes. Nutr Rev., 2018, vol. 76 (4), pp. 243–259. DOI: 10.1093/nutrit/nuy001
17. Onori M.E., Pasqualetti M., Moretti G. et al. Genetics and Sport Injuries: New Perspectives for Athletic Excellence in an Italian Court of Rugby Union Players. Genes (Basel), 2022, vol. 13 (6), p. 995. DOI: 10.3390/genes13060995
18. Pasqualetti M., Onori M.E., Canu G. et al. The Relationship between ACE, ACTN3 and MCT1 Genetic Polymorphisms and Athletic Performance in Elite Rugby Union Players: A Preliminary Study. Genes (Basel), 2022, vol. 13 (6), p. 969. DOI: 10.3390/genes13060969
19. Petr M., Maciejewska-Skrendo A., Zajac A. et al. Association of Elite Sports Status with Gene Variants of Peroxisome Proliferator Activated Receptors and Their Transcriptional Coactivator. International Journal Mol Science, 2019, vol. 21 (1), p. 162. DOI: 10.3390/ijms21010162
20. Puthucheary Z., Skipworth J.R., Rawal J. et al. The ACE Gene and Human Performance: 12 Years On. Sports Med, 2011, vol. 41 (6), pp. 433–448. DOI: 10.2165/11588720-000000000-00000
21. Saito M., Ginszt M., Semenova E.A. et al. Is COL1A1 Gene rs1107946 Polymorphism Associated with Sport Climbing Status and Flexibility? Genes (Basel), 2022, vol. 13 (3), p. 403. DOI: 10.3390/genes13030403
22. Saito M., Zempo H., de Almeida K.Y. et al. The Association between ACTN3 R577X Polymorphism and Range of Motion: A Systematic Review and Meta-analysis. International Journal Sports Medicine, 2023, vol. 44 (9), pp. 618–624. DOI: 10.1055/a-2035-8300
23. San-Millán I., Brooks G.A. Assessment of Metabolic Flexibility by Means of Measuring BloodLactate, Fat, and Carbohydrate Oxidation Responses to Exercise in Professional Endurance Athletes and Less-Fit Individuals. Sports Medicine, 2018, vol. 48 (2), pp. 467–479. DOI: 10.1007/s40279-017-0751-x
24. Schranner D., Kastenmüller G., Schönfelder M. et al. Metabolite Concentration Changes in Humans After a Bout of Exercise: a Systematic Review of Exercise Metabolomics Studies. Sports Med Open, 2020, vol. 6 (1), p. 11. DOI: 10.1186/s40798-020-0238-4
25. Semenova E.A., Hall E.C.R., Ahmetov I.I. Genes and Athletic Performance: The 2023 Update. Genes (Basel), 2023, vol. 14 (6), p. 1235. DOI: 10.3390/genes14061235
26. Semenova E.A., Zempo H., Miyamoto-Mikami E. et al. Genome-Wide Association Study Identifies CDKN1A as a Novel Locus Associated with Muscle Fiber Composition. Cells, 2022, vol. 11 (23), p. 3910. DOI: 10.3390/cells11233910
27. Varillas-Delgado D. Role of the PPARGC1A Gene and Its rs8192678 Polymorphism on Sport Performance, Aerobic Capacity, Muscle Adaptation and Metabolic Diseases: A Narrative Review. Genes (Basel), 2024, vol. 15 (12), p. 1631. DOI: 10.3390/genes15121631
28. Varillas-Delgado D., Del Coso J., Gutiérrez-Hellín J. et al. Genetics and Sports Performance: the Present and Future in the Identification of Talent for Sports Based on DNA Testing. European Journal Apple Physiology, 2022, vol. 122 (8), pp. 1811–1830. DOI: 10.1007/s00421-022-04945-z
29. Végh D., Reichwalderová K., Slaninová M., Vavák M. The Effect of Selected Polymorphisms of the ACTN3, ACE, HIF1A and PPARA Genes on the Immediate Supercompensation Training Effect of Elite Slovak Endurance Runners and Football Players. Genes (Basel), 2022, vol. 13 (9), p. 1525. DOI: 10.3390/genes13091525
30. Vostrikova A., Pechenkina V., Danilova M. et al. Gene Polymorphism and Total Genetic Score in Martial Arts Athletes with Different Athletic Qualifications. Genes (Basel), 2022, vol. 13 (9), p. 1677. DOI: 10.3390/genes13091677
31. Wei Q. Association between the PPARGC1A Gly482Ser Polymorphism and Muscle Fitness in Chinese Schoolchildren. PLoS One, 2023, vol. 18 (4), e0284827. DOI: 10.1371/journal.pone.0284827
32. Yao J., Saraf F., Rathore V.S. et al. Importance of Selected Genetic Determinants on Endurance Performance and Physical Strength: a Narrative Review. Front Physiology, 2025, vol. 16, 1568334. DOI: 10.3389/fphys.2025.1568334
33. Zmorzynski S., Szudy-Szczyrek A., Popek-Marciniec S. et al. ACE Insertion/Deletion Polymorphism (rs4646994) Is Associated with the Increased Risk of Multiple Myeloma. Front Oncol., 2019, vol. 9, p. 44. DOI: 10.3389/fonc.2019.00044
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3. Bıçakçı B., Cięszczyk P., Humińska-Lisowska K. Genetic Determinants of Endurance: A Narrative Review on Elite Athlete Status and Performance. International Journal Mol Science, 2024, vol. 25 (23), 13041. DOI: 10.3390/ijms252313041
4. Bottura R.M., Dentillo D.B. Genomic Information in the Decision-making Process for the Training of a High-performance Brazilian Swimmer: a Case Report. Front Genet, 2025, vol. 16, 1544178. DOI: 10.3389/fgene.2025.1544178
5. El Ouali E.M., Barthelemy B., Del Coso J. et al. A Systematic Review and Meta-analysis of the Association Between ACTN3 R577X Genotypes and Performance in Endurance Versus Power Athletes and Non-athletes. Sports Med Open, 2024, vol. 10 (1), p. 37. DOI: 10.1186/s40798-024-00711-x
6. Ferreira C.P., Silvino V.O., Trevisano R.G. et al. Influence of Genetic Polymorphism on Sports Talent Performance Versus Non-athletes: a Systematic Review and Meta-analysis. BMC Sports Science Med Rehabilitation, 2024, vol. 16 (1), p. 223. DOI: 10.1186/s13102-024-01001-5
7. Gasser B., Dössegger A., Giraud M.N., Flück M. T-Allele Carriers of Mono Carboxylate Transporter One Gene Polymorphism rs1049434 Demonstrate Altered Substrate Metabolization during Exhaustive Exercise. Genes (Basel), 2024, vol. 15 (7), p. 918. DOI: 10.3390/genes15070918
8. Ginevičienė V., Jakaitienė A., Utkus A. et al. CKM Gene rs8111989 Polymorphism and Power Athlete Status. Genes (Basel), 2021, vol. 12 (10), p. 1499. DOI: 10.3390/genes12101499
9. Guilherme J.P.L.F., Bosnyák E., Semenova E.A. et al. The MCT1 Gene Glu490Asp Polymorphism (rs1049434) is Associated with Endurance Athlete Status, Lower Blood Lactate Accumulation and Higher Maximum Oxygen Uptake. Biology Sport, 2021, vol. 38 (3), pp. 465–474. DOI: 10.5114/biolsport.2021.101638
10. Huang M., Claussnitzer M., Saadat A. et al. Engineered Allele Substitution at PPARGC1A rs8192678 Alters Human White Adipocyte Differentiation, Lipogenesis, and PGC-1α Content and Turnover. Diabetologia, 2023, vol. 66 (7), pp. 1289–1305. DOI: 10.1007/s00125-023-05915-6
11. Kikuchi N., Moreland E., Homma H. et al. Genes and Weightlifting Performance. Genes (Basel), 2021, vol. 13 (1), p. 25. DOI: 10.3390/genes13010025
12. Kumagai H., Kaneko T., Shintake Y. et al. Genetic Polymorphisms Related to Muscular Strength and Flexibility are Associated with Artistic Gymnastic Performance in the Japanese Population. European Journal Sport Science, 2023, vol. 23 (6), pp. 955–963. DOI: 10.1080/17461391.2022.2078741
13. Łosińska K.W., Cięszczyk P., Ghiani G., Maszczyk A. Effect Size and Replicability in Ge-netic Studies of Athletic Performance: A Meta-Analytical Review. Genes (Basel), 2025, vol. 16 (9), p. 1040. DOI: 10.3390/genes16091040
14. Marques I.S., Tavares V., Vieira Neto B. et al. Genetic Variations in Susceptibility to Traumatic Muscle Injuries and Muscle Pain among Brazilian High-Performance Athletes. International Journal Mol Science, 2024, vol. 25 (6), p. 3300. DOI: 10.3390/ijms25063300
15. Mijaica R., Tohănean D.I., Alexe D.I., Balint L. Physical Performance and Sports Genetics: A Systematic Review of Candidate Gene Polymorphisms Involved in Team Sports. Genes (Basel), 2025, vol. 16 (9), p. 1079. DOI: 10.3390/genes16091079
16. Murray B., Rosenbloom C. Fundamentals of Glycogen Metabolism for Coaches and Athletes. Nutr Rev., 2018, vol. 76 (4), pp. 243–259. DOI: 10.1093/nutrit/nuy001
17. Onori M.E., Pasqualetti M., Moretti G. et al. Genetics and Sport Injuries: New Perspectives for Athletic Excellence in an Italian Court of Rugby Union Players. Genes (Basel), 2022, vol. 13 (6), p. 995. DOI: 10.3390/genes13060995
18. Pasqualetti M., Onori M.E., Canu G. et al. The Relationship between ACE, ACTN3 and MCT1 Genetic Polymorphisms and Athletic Performance in Elite Rugby Union Players: A Preliminary Study. Genes (Basel), 2022, vol. 13 (6), p. 969. DOI: 10.3390/genes13060969
19. Petr M., Maciejewska-Skrendo A., Zajac A. et al. Association of Elite Sports Status with Gene Variants of Peroxisome Proliferator Activated Receptors and Their Transcriptional Coactivator. International Journal Mol Science, 2019, vol. 21 (1), p. 162. DOI: 10.3390/ijms21010162
20. Puthucheary Z., Skipworth J.R., Rawal J. et al. The ACE Gene and Human Performance: 12 Years On. Sports Med, 2011, vol. 41 (6), pp. 433–448. DOI: 10.2165/11588720-000000000-00000
21. Saito M., Ginszt M., Semenova E.A. et al. Is COL1A1 Gene rs1107946 Polymorphism Associated with Sport Climbing Status and Flexibility? Genes (Basel), 2022, vol. 13 (3), p. 403. DOI: 10.3390/genes13030403
22. Saito M., Zempo H., de Almeida K.Y. et al. The Association between ACTN3 R577X Polymorphism and Range of Motion: A Systematic Review and Meta-analysis. International Journal Sports Medicine, 2023, vol. 44 (9), pp. 618–624. DOI: 10.1055/a-2035-8300
23. San-Millán I., Brooks G.A. Assessment of Metabolic Flexibility by Means of Measuring BloodLactate, Fat, and Carbohydrate Oxidation Responses to Exercise in Professional Endurance Athletes and Less-Fit Individuals. Sports Medicine, 2018, vol. 48 (2), pp. 467–479. DOI: 10.1007/s40279-017-0751-x
24. Schranner D., Kastenmüller G., Schönfelder M. et al. Metabolite Concentration Changes in Humans After a Bout of Exercise: a Systematic Review of Exercise Metabolomics Studies. Sports Med Open, 2020, vol. 6 (1), p. 11. DOI: 10.1186/s40798-020-0238-4
25. Semenova E.A., Hall E.C.R., Ahmetov I.I. Genes and Athletic Performance: The 2023 Update. Genes (Basel), 2023, vol. 14 (6), p. 1235. DOI: 10.3390/genes14061235
26. Semenova E.A., Zempo H., Miyamoto-Mikami E. et al. Genome-Wide Association Study Identifies CDKN1A as a Novel Locus Associated with Muscle Fiber Composition. Cells, 2022, vol. 11 (23), p. 3910. DOI: 10.3390/cells11233910
27. Varillas-Delgado D. Role of the PPARGC1A Gene and Its rs8192678 Polymorphism on Sport Performance, Aerobic Capacity, Muscle Adaptation and Metabolic Diseases: A Narrative Review. Genes (Basel), 2024, vol. 15 (12), p. 1631. DOI: 10.3390/genes15121631
28. Varillas-Delgado D., Del Coso J., Gutiérrez-Hellín J. et al. Genetics and Sports Performance: the Present and Future in the Identification of Talent for Sports Based on DNA Testing. European Journal Apple Physiology, 2022, vol. 122 (8), pp. 1811–1830. DOI: 10.1007/s00421-022-04945-z
29. Végh D., Reichwalderová K., Slaninová M., Vavák M. The Effect of Selected Polymorphisms of the ACTN3, ACE, HIF1A and PPARA Genes on the Immediate Supercompensation Training Effect of Elite Slovak Endurance Runners and Football Players. Genes (Basel), 2022, vol. 13 (9), p. 1525. DOI: 10.3390/genes13091525
30. Vostrikova A., Pechenkina V., Danilova M. et al. Gene Polymorphism and Total Genetic Score in Martial Arts Athletes with Different Athletic Qualifications. Genes (Basel), 2022, vol. 13 (9), p. 1677. DOI: 10.3390/genes13091677
31. Wei Q. Association between the PPARGC1A Gly482Ser Polymorphism and Muscle Fitness in Chinese Schoolchildren. PLoS One, 2023, vol. 18 (4), e0284827. DOI: 10.1371/journal.pone.0284827
32. Yao J., Saraf F., Rathore V.S. et al. Importance of Selected Genetic Determinants on Endurance Performance and Physical Strength: a Narrative Review. Front Physiology, 2025, vol. 16, 1568334. DOI: 10.3389/fphys.2025.1568334
33. Zmorzynski S., Szudy-Szczyrek A., Popek-Marciniec S. et al. ACE Insertion/Deletion Polymorphism (rs4646994) Is Associated with the Increased Risk of Multiple Myeloma. Front Oncol., 2019, vol. 9, p. 44. DOI: 10.3389/fonc.2019.00044
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