Massidda Myosotis, Voisin Sarah, Culigioni Claudia, Piras Francesco, Cugia Paolo, Yan Xu, Eynon Nir, Calò Carla M
Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy.
Italian Sports Medicine Federation (FMSI), Rome, Italy.
Clin J Sport Med. 2019 Jan;29(1):57-61. doi: 10.1097/JSM.0000000000000487.
The ACTN3 R577X gene variant results in the absence of the α-actinin-3 protein in ∼18% of humans worldwide and has been associated with athletic performance and increased susceptibility to eccentric muscle damage. The aim of this study was to investigate the association between ACTN3 R577X variant and indirect muscle disorders/injuries in professional football players.
A case-control, genotype-phenotype association study.
Two hundred fifty-seven male professional Italian football players (from Serie A, Primavera, Allievi, and Giovanissimi; age = 21.2 ± 5.3 years) and 265 nonathletic controls were recruited for the study. Genomic DNA was extracted using a buccal swab, and the ACTN3 R577X genotype was performed using a PCR method. Structural-mechanical injuries and functional muscle disorders were collected from a subgroup of 169 football players during the period of 2009 to 2014.
We hypothesized that the 577XX genotype would be associated with higher predisposition to muscle injuries (compared with the other genotypes).
ACTN3 XX (α-actinin-3 deficiency) players had 2.66 higher odds for an injury incidence than their ACTN3 RR counterparts (95% confidence interval [CI]: 1.09-6.63, P = 0.02), whereas RX and RR players had similar injury incidence. Furthermore, ACTN3 XX players had 2.13 higher odds for having a severe injury compared with their RR counterparts (95% CI: 1.25-3.74, P = 0.0054), whereas RX individuals had 1.63 higher odds for having a severe injury compared with the RR players (95% CI: 1.10-2.40, P = 0.015).
The ACTN3 R577X polymorphism is associated with the incidence and severity of muscle injuries in professional football players; players with the ACTN3 577XX genotype have higher odds of having muscle injuries than their RR counterparts.
Discovering the complex relationship between gene variants and muscle injuries may assist coaches, physiologists, and the medical community to development tailored injury prevention program for football players, which could provide a new edge for successful competition.
ACTN3 R577X基因变异导致全球约18%的人缺乏α -辅肌动蛋白-3蛋白，且该变异与运动表现及离心性肌肉损伤易感性增加有关。本研究旨在调查ACTN3 R577X变异与职业足球运动员间接性肌肉疾病/损伤之间的关联。
一项病例对照的基因型-表型关联研究。
招募了257名意大利男性职业足球运动员（来自意甲、青年队、少年队和儿童队；年龄=21.2±5.3岁）和265名非运动员对照参与研究。使用口腔拭子提取基因组DNA，并采用聚合酶链反应（PCR）方法检测ACTN3 R577X基因型。收集了2009年至2014年期间169名足球运动员亚组的结构-机械性损伤和功能性肌肉疾病情况。
我们假设577XX基因型与肌肉损伤的更高易感性相关（与其他基因型相比）。
ACTN3 XX（α -辅肌动蛋白-3缺乏）型球员的损伤发生率比ACTN3 RR型球员高2.66倍（95%置信区间[CI]：1.09 - 6.63，P = 0.02），而RX型和RR型球员的损伤发生率相似。此外，ACTN3 XX型球员发生严重损伤的几率比RR型球员高2.13倍（95% CI：1.25 - 3.74，P = 0.0054），而RX型个体发生严重损伤的几率比RR型球员高1.63倍（95% CI：1.10 - 2.40，P = 0.015）。
ACTN3 R577X多态性与职业足球运动员肌肉损伤的发生率和严重程度相关；ACTN3 577XX基因型的球员比RR型球员发生肌肉损伤的几率更高。
发现基因变异与肌肉损伤之间的复杂关系可能有助于教练、生理学家和医学界为足球运动员制定量身定制的损伤预防计划，这可为成功比赛提供新优势。
