Muhammed Mustafa Piri

60119008500

Publications - 2

The ACTN3 R577X Nonsense Allele Is Underrepresented in Professional Volleyball Players and Associated with an Increased Risk of Muscle Injury in Female Players

Publication Name: Genes

Publication Date: 2025-09-01

Volume: 16

Issue: 9

Page Range: Unknown

Description:

Background: Muscle injuries pose a significant challenge in sports, leading to decreased performance and shortened career longevity. Individuals homozygous for the nonsense X allele of the ACTN3 rs1815739 (R577X) polymorphism, characterized by a complete absence of α-actinin-3, have been associated with reduced power performance and may have an increased injury risk. This study aimed to investigate the association between the ACTN3 R577X polymorphism and both volleyball player status and the risk of non-contact musculoskeletal injuries in female volleyball players. Methods: The study included 5382 Turkish and Russian subjects of European descent (187 professional volleyball players and 5195 controls), of whom 50 female players provided injury data. Sport-related injury information was obtained from medical records maintained by team physicians and physiotherapists. Results: A pooled analysis of the two cohorts demonstrated that the frequency of the ACTN3 X allele was significantly lower in volleyball players than in controls, with an odds ratio of 0.763 (95% CI: 0.61–0.95, p = 0.02). In the pre-specified recessive contrast (XX vs. RR + RX) among 50 players, exact methods indicated higher injury odds for the XX genotype (OR = 7.87, 95% CI: 0.94–374.58; p = 0.0366), which was classified as borderline/exploratory. Penalized (Firth) regression produced estimates of a similar magnitude after adjustment for age and playing position (adjusted OR = 5.92, 95% CI: 1.12–60.98), although confidence intervals remained wide. Conclusions: The ACTN3 X allele is underrepresented in professional volleyball players, and it is associated with an increased risk of muscle injury in female players.

Open Access: Yes

DOI: 10.3390/genes16091076

Effects of Exercise Addiction and the COL1A1 Gene rs1800012 Polymorphism on Injury Susceptibility in Elite Female Volleyball Players

Publication Name: Genes

Publication Date: 2025-11-01

Volume: 16

Issue: 11

Page Range: Unknown

Description:

Objectives: The objective of this study was to separately examine the effects of exercise addiction and the Collagen Type I Alpha 1 Chain (COL1A1) gene rs1800012 G/T polymorphism on injury susceptibility in elite female volleyball players, and to test the hypothesis that the T allele, previously identified as a risk allele, is underrepresented in volleyball players compared to the general population. Methods: The study included 50 professional Turkish female volleyball players with documented injury data, along with 557 Turkish controls, 53 professional Russian volleyball players, and 810 Russian controls. The Turkish participants were enrolled in a case–control study, an injury study, and an exercise addiction study, whereas the Russian participants were enrolled solely in a case–control study. Results: Injured players had significantly higher scores in the Delay of Individual Social Needs and Conflict subscale of the Exercise Addiction Scale compared to their uninjured counterparts (p = 0.036). The random-effects meta-analysis revealed a significantly lower frequency of the COL1A1 T allele in volleyball players compared to controls (pooled OR = 0.63, 95% CI: 0.41–0.96, p = 0.031). Athletes who had not undergone surgery had a significantly higher frequency of the G allele compared to controls (89.2% vs. 78.7%, p = 0.037; OR = 2.23, 95% CI: 1.1–4.7). Among injured athletes, those carrying the GT genotype were significantly more likely to experience prolonged recovery (≥3 months) (57.1%) compared to those with the GG genotype (28.0%, p = 0.017). Conclusions: Exercise addiction and the COL1A1 rs1800012 T allele were associated with a higher incidence of injury in female volleyball players. The T allele was also associated with a longer recovery time following injury.

Open Access: Yes

DOI: 10.3390/genes16111300