Association Between Muscle Stiffness And Esr1 Rs2234693, Rs9340799 And Actn3 R577x Polymorphisms In Collegiate Athletes

Abstract

Previous studies have reported that distinct gene polymorphisms (e.g. ACTN3 R577X, ESR1 rs2234693, rs9340799) are associated with muscle stiffness, amongst which ESR1 rs2234693 and rs9340799 polymorphisms are also associated with instances of muscle injury. PURPOSE: To investigate the association between muscle stiffness and ESR1 rs2234693, rs9340799 and ACTN3 R577X polymorphisms in collegiate athletes. METHODS: In this study, 40 athletes (33 men and 7 women), who had undergone resistance training, were evaluated for the occurrence of muscle stiffness (hamstring: biceps femoris, semitendinosus, and semimembranosus) by ultrasound shear wave elastography. Additionally, ESR1 rs2234693, rs9340799 and ACTN3 R577X polymorphisms were analyzed using the TaqMan SNP Genotyping Assay. Comparisons of muscle stiffness between the genotypes were performed using one-way ANOVA. The Hardy-Weinberg equilibrium was determined for the ESR1 rs2234693, rs9340799 and ACTN3 R577X polymorphism using a Chi-square test. RESULTS: Genotype frequencies of the ESR1 rs2234693 (CC 13%, CT 55%, TT 33%), rs9340799 (GG 3%, GA 25%, AA 73%) and ACTN3 R577X (RR 18%, RX 64%, XX 18%) polymorphisms were consistent with the Hardy-Weinberg equilibrium (p=0.36, p=0.90, p=0.08, respectively). However, there was no significant difference in muscle stiffness between ESR1 rs2234693 and ACTN3 R577X genotypes. Further, the GG or GA genotype of ESR1 rs9340799 polymorphism tend to exhibit greater muscle stiffness of the hamstring muscles compared with the AA genotype in collegiate athletes (27.2 ± 7.0kPa vs. 22.4 ± 6.7kPa; p= 0.054). CONCLUSIONS: Our results suggested that ESR1 rs2234693, rs9340799 and ACTN3 R577X polymorphisms are not associated with muscle stiffness in collegiate athletes.