ESR1 rs2234693 Polymorphism Is Associated with Muscle Injury and Muscle Stiffness

Purpose Muscle injury is the most common sports injury. Muscle stiffness, a risk factor for muscle injury, is lower in females than in males, implying that sex-related genetic polymorphisms influence muscle injury associated with muscle stiffness. The present study aimed to clarify the associations between two genetic polymorphisms (rs2234693 and rs9340799) in the estrogen receptor 1 gene (ESR1) and muscle injury or muscle stiffness. Methods In study 1, a questionnaire was used to assess the muscle injury history of 1,311 Japanese top-level athletes. In study 2, stiffness of the hamstring muscles was assessed using ultrasound shear wave elastography in 261 physically active young adults. In both studies, rs2234693 C/T and rs9340799 G/A polymorphisms in the ESR1 were analysed using the TaqMan SNP Genotyping Assay. Results In study 1, genotype frequencies for ESR1 rs2234693 were significantly different between the injured and non-injured groups in a C-allele dominant (CC+CT vs. TT: odds ratio [OR] = 0.62, 95% confidence interval [CI] = 0.43–0.91) and additive (CC vs. CT vs. TT: OR = 0.70, 95% CI = 0.53–0.91) model in all athletes. In study 2, hamstring muscle stiffness was lower in subjects with the CC+CT genotype than in those with the TT genotype; a significant linear trend was found (r = 0.135, P = 0.029). In contrast, no associations were observed between ESR1 rs9340799 G/A and muscle injury or stiffness. Conclusion Our results suggest that the ESR1 rs2234693 C allele, in contrast to the T allele, provides protection against muscle injury by lowering muscle stiffness. Key Terms Single nucleotide polymorphism; estrogen receptor; muscle stiffness; injury prediction; athletes Correspondence: Noriyuki Fuku, Ph.D. Graduate School of Health and Sports Science, Juntendo University, 1-1 Hiraka-gakuendai, Inzai-city, Chiba 270-1695, Japan. Tel: +81 476-98-1001 (ext. 9303), Fax: +81 476-98-1011, E-mail: noriyuki.fuku@nifty.com No conflicts of interest, financial or otherwise, are declared by the authors. The results of the present study do not constitute endorsement by ACSM. All authors declare that the results of the study are presented clearly, honestly, and without fabrication, falsification, or inappropriate data manipulation. Submitted for publication March 2018. Accepted for publication July 2018. © 2018 American College of Sports Medicine

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