Analysis of the ECA and ACTN3 genes in Colombian youth athletes and their association with ethnicity
DOI:
https://doi.org/10.55040/r1ff9j14Keywords:
actinin, angiotensin, athletic performance, genotype, gene polymorphismAbstract
The diversity of ethnic groups in Colombia may highlight differences in specific genetic markers associated with sport. Objective: To analyze the profile, association, and genotypic and allelic frequency of the angiotensin-converting enzyme (ACE) I/D polymorphisms and the alpha-actinin 3 R577X (ACTN3) R/X polymorphism in youth athletes from different ethnicities in Colombia. Methodology: Sixty-four high-performance youth athletes and 27 control subjects were recruited. DNA was extracted from oral epithelial cells, and genotypes were identified by PCR and electrophoresis. Allelic frequencies were calculated using Hardy-Weinberg equilibrium (χ² test, p < 0.05). Results: Significant differences were found in the genotypic distribution between athletes and controls. For the ACE gene, the DD genotype was more frequent (52% vs. 22% in controls, p=0.003, OR=0.33, 95% CI 0.13-0.84). When divided among ethnic populations, the Pijao group showed a statistically significant higher prevalence of the DD genotype (43% vs. 7%, OR=0.095, p=0.014, 95% CI: 0.01-1.68). On the other hand, no significant differences were found for the ACTN3 gene; the RX genotype was the most frequent (62% vs. 63% in the control group, p=0.98), while the RR genotype was present in 28% of athletes. These results indicate that the DD genotype is more frequent in the mixed-race population of Pijao indigenous and Caucasian descent
References
Ahmad Yusof, H., & Che Muhamed, A. M. (2021). Angiotensin-converting enzyme (ACE) insertion/deletion gene polymorphism across ethnicity: a narrative review of performance gene. In Sport Sciences for Health (Vol. 17, Number 1, pp. 57–77). Springer-Verlag Italia s.r.l. https://doi.org/10.1007/s11332-020-00712-9
Alvim, I., Silva-Carvalho, C., Mendes de Aquino, M., Borda, V., Sanchez, C., Padilla, C., Cáceres, O., Rezende-Diniz, I., Saraiva-Duarte, J., Faria-Costa, L., Santolalla, M. L., Rodrigues-Soares, F., Zolini, C., Llerena, A., O’Connor, T. D., Gilman, R. H., Guio, H., & Tarazona-Santos, E. (2024). The need to diversify genomic studies: Insights from Andean highlanders and Amazonians. In Cell (Vol. 187, Number 18, pp. 4819–4823). Elsevier B.V. https://doi.org/10.1016/j.cell.2024.07.009
Ash, G. I., Scott, R. A., Deason, M., Dawson, T. O. M. A., Wolde, B., Bekele, Z., Teka, S., & Pitsiladis, Y. P. (2011). No Association between ACE Gene Variation and Endurance Athlete Status in Ethiopians. (23), 590–597. https://doi.org/10.1249/MSS.0b013e3181f70bd6
Bıçakçı, B., Cięszczyk, P., & Humińska-Lisowska, K. (2024). Genetic Determinants of Endurance: A Narrative Review on Elite Athlete Status and Performance. In International Journal of Molecular Sciences (Vol. 25, Number 23). Multidisciplinary Digital Publishing Institute (MDPI). https://doi.org/10.3390/ijms252313041
Buitrago-Espitia, J. E., Cabrera, V. P. F., Mondragón del, P. L. P., Buitrago, R. J. A., Saavedra, O. N., Callejas, M. G. M., Ramírez, C. C., & Guzmán, C. N. R. (2024). Genotype distribution and allele frequency of the ace gene i/d polymorphism in endurance runners: systematic review. In Journal of Sport and Health Research (Vol. 16, Number 1, pp. 1–18). Didactic Asociation Andalucia. https://doi.org/10.58727/jshr.95827
Carvajal-Espinoza, R., Trejos-Montoya, J., & Herrera-González, E. (2023). Análisis de los polimorfismos ECA y ACTN3 con la agilidad en seleccionados nacionales de deportes de conjunto de Costa Rica. Estudio piloto. https://orcid.org/0000-0002-1007-8237
Chiu, Y. H., Lai, J. I., Tseng, C. Y., Wang, S. H., Li, L. H., Kao, W. F., How, C. K., Chang, W. H., & Hsieh, C. Y. (2019). Impact of angiotension I converting enzyme gene I/D polymorphism on running performance, lipid, and biochemical parameters in ultra-marathoners. Medicine, 98(29), e16476. https://doi.org/10.1097/MD.0000000000016476
Durmic, T. S., Zdravkovic, M. D., Djelic, M. N., Gavrilovic, T. D., Saranovic, S. A. D., Plavsic, J. N., Mirkovic, S. V., Batinic, D. V., Antic, M. N., Mihailovic, Z. R., Atanasijevic, N. G., Mileusnic, M. J., & Stojkovic, O. V. (2017). Polymorphisms in ACE and ACTN3 genes and blood pressure response to acute exercise in elite male athletes from Serbia. Tohoku Journal of Experimental Medicine, 243(4), 311–320. https://doi.org/10.1620/tjem.243.311
Ferreira, C. P., Silvino, V. O., Trevisano, R. G., de Moura, R. C., Almeida, S. S., & Pereira dos Santos, M. A. (2024). Influence of genetic polymorphism on sports talent performance versus non-athletes: a systematic review and meta-analysis. BMC Sports Science, Medicine and Rehabilitation, 16(1). https://doi.org/10.1186/s13102-024-01001-5
Gasser, B., Frei, A., Niederseer, D., Catuogno, S., Frey, W. O., & Flück, M. (2022). Variability in the Aerobic Fitness-Related Dependence on Respiratory Processes During Muscle Work Is Associated With the ACE-I/D Genotype. Frontiers in Sports and Active Living, 4(May). https://doi.org/10.3389/fspor.2022.814974
Gineviciene, V., Jakaitiene, A., Aksenov, M. O., Aksenova, A. V., Druzhevskaya, A. M., Astratenkova, I. V., Egorova, E. S., Gabdrakhmanova, L. J., Tubelis, L., Kucinskas, V., & Utkus, A. (2016). Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes. Biology of Sport, 33(3), 199–206. https://doi.org/10.5604/20831862.1201051
Ginevičienė, V., Utkus, A., Pranckevičienė, E., Semenova, E. A., Hall, E. C. R., & Ahmetov, I. I. (2022). Perspectives in Sports Genomics. Biomedicines, 10(2), 298. https://doi.org/10.3390/biomedicines10020298
Guilherme, J. P. L. F., Semenova, E. A., Kikuchi, N., Homma, H., Kozuma, A., Saito, M., Zempo, H., Matsumoto, S., Kobatake, N., Nakazato, K., Okamoto, T., John, G., Yusupov, R. A., Larin, A. K., Kulemin, N. A., Gazizov, I. M., Generozov, E. V., & Ahmetov, I. I. (2024). Identification of Genomic Predictors of Muscle Fiber Size. Cells, 13(14), 1212. https://doi.org/10.3390/cells13141212
Hernández-Martínez, A., Cuartas-Agudelo, Y. S., Herrera-Almanza, L., Roldan-Tabares, M. D., & Martínez-Sánchez, L. M. (2021). Ethnoeducation: Health education from cultural diversity. In MedUNAB (Vol. 24, Number 1, pp. 80–91). Universidad Autonoma de Bucaramanga. https://doi.org/10.29375/01237047.3899
İpekoğlu, G., Çetin, T., Sırtbaş, T., Kılıç, R., Odabaşı, M., & Bayraktar, F. (2025). Candidate gene polymorphisms and power athlete status: a meta-analytical approach. In Journal of Physiology and Biochemistry. Springer Science and Business Media B.V. https://doi.org/10.1007/s13105-025-01071-0
Kahya, S., & Taheri, M. (2024). Exploring the nexus between sports performance and genetics: a comprehensive literature review. Cellular and Molecular Biology, 70(5), 275–283. https://doi.org/10.14715/cmb/2024.70.5.41
Kambouris, M., Ntalouka, F., Ziogas, G., & Maffulli, N. (2012). Predictive genomics DNA profiling for athletic performance. Recent Patents on DNA and Gene Sequences, 6(3), 229–239. https://doi.org/10.2174/187221512802717321
Kaynar, Ö., Polat, T., Koç, H., Ferhatoǧlu, Y., Yilmaz, Ö. Ö., Aslan, B. T., Ulucan, K., & Gómez-Salgado, J. (2025). Genetic biomarkers of skiers from the Oǧlaǧo Tribe in Muş Province, Turkey: An analysis of ACTN3, VEGF-A, and GABPB1 polymorphisms. Medicine (United States), 104(20). https://doi.org/10.1097/MD.0000000000042429
Liu, H., & Zhang, J. (2025). The inheritance and regional differences of traditional national sports from the perspective of cultural and historical geography. GeoJournal , 90(4). https://doi.org/10.1007/s10708-025-11399-1
Liu, T. (2024). The roles of ACE I/D and ACTN3 R577X gene variants in heat acclimation. Heliyon, 10(12). https://doi.org/10.1016/j.heliyon.2024.e33172
Mariño-Ramírez, L., Sharma, S., Hamilton, J. M., Nguyen, T. L., Gupta, S., Natarajan, A. V., Nagar, S. D., Menuey, J. L., Chen, W. A., Sánchez-Gómez, A., Satizábal-Soto, J. M., Martínez, B., Marrugo, J., Medina-Rivas, M. A., Gallo, J. E., Jordan, I. K., & Valderrama-Aguirre, A. (2025). The Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CÓDIGO): building local capacity in genomics and bioinformatics. Communications Biology, 8(1). https://doi.org/10.1038/s42003-025-08496-9
Moir, H. J., Kemp, R., Folkerts, D., Spendiff, O., Pavlidis, C., & Opara, E. (2019). Genes and elite marathon running performance: A systematic review. Journal of Sports Science and Medicine, 18(3), 559–568.
Nunes, J. R. de A., Ceylan, H. I., de Almeida-Neto, P. F., Murawska-Ciałowicz, E., Bragazzi, N. L., & de Assis, G. G. (2025). The Influence of the ACTN3 R577X Genotype on Performance in Brazilian National-Level Decathlon Athletes: A Pilot Study. Cells, 14(11). https://doi.org/10.3390/cells14110782
Ortiz, M., Ayala, A., Petro, J. L., Argothy, R., GarzÓn, J., & Bonilla, D. A. (2020). Evaluation of ACTN3 R577X and ACE I/D polymorphisms in young Colombian athletes: An exploratory research. Journal of Human Sport and Exercise, 17(3), 1–14. https://doi.org/10.14198/jhse.2022.173.14
Papadimitriou, I. D., Lockey, S. J., Voisin, S., Herbert, A. J., Garton, F., Houweling, P. J., Cieszczyk, P., Maciejewska-Skrendo, A., Sawczuk, M., Massidda, M., Calò, C. M., Astratenkova, I. V., Kouvatsi, A., Druzhevskaya, A. M., Jacques, M., Ahmetov, I. I., Stebbings, G. K., Heffernan, S., Day, S. H., … Eynon, N. (2018). No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes. BMC Genomics, 19(1), 1–9. https://doi.org/10.1186/s12864-017-4412-0
Quinque, D., Kittler, R., Kayser, M., Stoneking, M., & Nasidze, I. (2006). Evaluation of saliva as a source of human DNA for population and association studies. Analytical Biochemistry, 353(2), 272–277. https://doi.org/10.1016/j.ab.2006.03.021
Rondón, F., Osorio, J. C., Peña, Á. V., Garcés, H. A., & Barreto, G. (2008). Diversidad genética en poblaciones humanas de dos regiones Colombianas. Colombia Medica, 39(2 SUPPL.), 52–60. https://doi.org/10.25100/cm.v39i2.Supl.2.585
Sirugo, G., Williams, S. M., & Tishkoff, S. A. (2019). The Missing Diversity in Human Genetic Studies. In Cell (Vol. 177, Number 1, pp. 26–31). Cell Press. https://doi.org/10.1016/j.cell.2019.02.048
Sommers, L., Akam, L., Hunter, D. J., Bhatti, J. S., & Mastana, S. (2024). Role of the ACE I/D Polymorphism in Selected Public Health-Associated Sporting Modalities: An Updated Systematic Review and Meta-Analysis. In International Journal of Environmental Research and Public Health (Vol. 21, Number 11). Multidisciplinary Digital Publishing Institute (MDPI). https://doi.org/10.3390/ijerph21111439
Tangarife, D. A. V. (2023). Intercultural Dialogue. Multiculturalism, citizenship and cultural policy in Bogotá. Revista Colombiana de Sociologia, 46(2). https://doi.org/10.15446/rcs.v46n2/101371
Wang, G., Fuku, N., Miyamoto-Mikami, E., Tanaka, M., Miyachi, M., Murakami, H., Mitchell, B. D., Morrison, E., Ahmetov, I. I., Generozov, E. V., Filipenko, M. L., Gilep, A. A., Gineviciene, V., Moran, C. N., Venckunas, T., Cieszczyk, P., Derave, W., Papadimitriou, I., Garton, F. C., … Akimov, E. B. (2025). Multi-phase, multi-ethnic GWAS uncovers putative loci in predisposition to elite sprint and power performance, health and disease. Biology of Sport, 42(3), 141–159. https://doi.org/10.5114/biolsport.2025.147015
Wei, Q. (2021). The ACE and ACTN3 polymorphisms in female soccer athletes. Genes and Environment, 43(1), 4–11. https://doi.org/10.1186/s41021-021-00177-3
Yang, N., Macarthur, D. G., Wolde, B., Onywera, V. O., Boit, M. K., Lau, S. Y. M. A., Wilson, R. H., Scott, R. A., Pitsiladis, Y. P., & North, K. (2007). The ACTN3 R577X polymorphism in east and west African athletes. Medicine and Science in Sports and Exercise, 39(11), 1985–1988. https://doi.org/10.1249/mss.0b013e31814844c9
Yang, S., Lin, W., Jia, M., & Chen, H. (2023). Association between ACE and ACTN3 genes polymorphisms and athletic performance in elite and sub-elite Chinese youth male football players. PeerJ, 11. https://doi.org/10.7717/peerj.14893
Yao, J., Saraf, F., Rathore, V. S., Darkazanli, K., Liu, Y., Korivi, M., & Bhaskar, L. V. K. S. (2025a). Importance of selected genetic determinants on endurance performance and physical strength: a narrative review. In Frontiers in Physiology (Vol. 16). Frontiers Media SA. https://doi.org/10.3389/fphys.2025.1568334
Yunis, J. J., & Yunis, E. J. (2013). Mitochondrial DNA (mtDNA) haplogroups in 1526 unrelated individuals from 11 Departments of Colombia. In Genetics and Molecular Biology (Vol. 36). www.sbg.org.br
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