Sprememba p.R577X gena ACTN3 (rs1815739) je povezana s pojavnostjo poškodb slovenskih nogometašic
Variant p.R577X (rs1815739) in ACTN3 gene is associated with frequency of injuries in Slovenian female football players

slovenian

2021

female football players   sports injuries

Narodna in univerzitetna knjižnica
(Obvezni izvod spletne publikacije)

Alpha-actinin-3 is a protein expressed in fast-twitch (type II) muscle fibres. ACTN3 gene variant NM_001104.4:c.1729C>T (p.R577X, rs1815739) in a homozygous state reduces strength, muscle mass, and fast-twitch fibre diameter and was asso-ciated with a higher risk of sports injuries and longer exer-cise recovery. We aimed to evaluate the association of the p.R577X with injuries and player position in Slovenian fema-le football players. The study group included 43 participants, with a median age of 16 (13-28) years, who had been acti-vely training football for at least 4 years. ACTN3 p.R577X genotyping was performed with PCR and DdeI restricti-on analysis on saliva DNA. p.R577X in the homozygous or heterozygous state was present in 58.1 % of the players, while 41.9 % had normal genotype. 53.7 % had a four ye-ars history of at least one sports injury. In our study, no sta-tistically significant association was found between ACTN3 p.R577X genotypes and the presence of injuries (p = 0.309), nor between the presence of injuries and player position (p = 0.830) or age dependant category team (p = 0.427). However, we confirmed the association between the presence of inju-ries and the frequencies of each allele (p = 0.037), with the X allele being associated with a higher incidence of injuries.

17.01.2025