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Updated: Sep 10, 2025

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ACTN3 R577X (rs1815739) Polimorfismo y estado del atleta: un estudio adicional de asociación de casos y controles y

Ameni Chelly1, Amal Bouzid1,2, Ines Kammoun3

  • 1Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.

Journal of strength and conditioning research
|August 22, 2025
PubMed
Resumen
Este resumen es generado por máquina.

La variante del gen ACTN3 R577X (rs1815739) no muestra ningún vínculo con la resistencia, pero se asocia con una menor potencia y un rendimiento atlético mixto. Los atletas tunecinos con el genotipo CC demostraron mejores capacidades de potencia.

Palabras clave:
El PNVel genDesempeñoel poder

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Área de la Ciencia:

  • Ciencias del deporte
  • La genética humana
  • Fisiología del ejercicio

Sus antecedentes:

  • El polimorfismo alfa-actinin-3 (ACTN3) R577X (rs1815739) está implicado en el rendimiento deportivo, pero los hallazgos son inconsistentes.
  • Estudios anteriores sugieren asociaciones entre los genotipos de ACTN3 y las capacidades de potencia/resistencia, sin embargo, faltan pruebas concluyentes.
  • Los datos genéticos sobre el polimorfismo ACTN3 R577X en los atletas del norte de África, específicamente los tunecinos, siguen sin establecerse.

Objetivo del estudio:

  • Realizar un metanálisis sobre la asociación entre el polimorfismo ACTN3 R577X y el estado atlético.
  • Investigar la asociación del polimorfismo ACTN3 R577X con el rendimiento deportivo en atletas tunecinos.
  • Aclarar el papel de ACTN3 R577X en el rendimiento de potencia, mezclado y resistencia.

Principales métodos:

  • Se realizó un metanálisis exhaustivo de 90 estudios elegibles (16.439 atletas, 36.349 controles) utilizando datos de PubMed, Web of Science y Scopus.
  • Se realizó un estudio de asociación caso-control con 49 atletas tunecinos (32 potenciales, 17 mixtos) y 49 controles.
  • La genotipización se realizó mediante el análisis del polimorfismo de longitud de fragmento de la reacción en cadena de la polimerasa (PCR-RFLP).

Principales resultados:

  • El metanálisis no encontró una asociación significativa entre el polimorfismo de ACTN3 rs1815739 y el rendimiento de resistencia (OR = 0,95; IC del 95% [0,86-1,04]).
  • Los atletas que poseían el alelo T estaban significativamente relacionados con una potencia más baja (OR = 0,71; IC del 95% [0,65-0,79]) y un rendimiento mixto (OR = 0,95; IC del 95% [0,87-1,02]).
  • Los atletas tunecinos con el genotipo CC mostraron una mayor probabilidad de rendimiento de potencia superior (OR = 0,71, IC del 95% [0,5353-0,9373]).

Conclusiones:

  • Este estudio proporciona evidencia adicional que apoya la asociación entre el polimorfismo de ACTN3 rs1815739 y el rendimiento de la potencia.
  • Los hallazgos destacan el papel potencial del polimorfismo ACTN3 R577X en la diferenciación de atletas de potencia y eventos mixtos.
  • Esta investigación es la primera en establecer un vínculo entre el polimorfismo de ACTN3 rs1815739 y el rendimiento energético en atletas tunecinos del norte de África.