Dataset Information

ESR1 rs2234693 Polymorphism Is Associated with Muscle Injury and Muscle Stiffness.

ABSTRACT: 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 1311 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 analyzed using the TaqMan SNP Genotyping Assay. RESULTS:In study 1, genotype frequencies for ESR1 rs2234693 C/T were significantly different between the injured and noninjured groups in a C-allele dominant (CC + CT vs TT: odds ratio, 0.62; 95% confidence interval, 0.43-0.91) and additive (CC vs CT vs TT: odds ratio, 0.70; 95% confidence interval, 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 (CC < CT < TT) was found (r = 0.135, P = 0.029). In contrast, no associations were observed between ESR1 rs9340799 G/A and muscle injury or stiffness. CONCLUSIONS:Our results suggest that the ESR1 rs2234693 C allele, in contrast to the T allele, provides protection against muscle injury by lowering muscle stiffness.

SUBMITTER: Kumagai H

PROVIDER: S-EPMC6310456 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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ESR1 rs2234693 Polymorphism Is Associated with Muscle Injury and Muscle Stiffness.

Kumagai Hiroshi H Miyamoto-Mikami Eri E Hirata Kosuke K Kikuchi Naoki N Kamiya Nobuhiro N Hoshikawa Seigo S Zempo Hirofumi H Naito Hisashi H Miyamoto Naokazu N Fuku Noriyuki N

Medicine and science in sports and exercise 20190101 1

<h4>Purpose</h4>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.<h4>Methods</h4>In study 1, a questionnaire was used to ...[more]

PMID: 30113520

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Project description:BACKGROUND:Poor joint flexibility has been repeatedly proposed as a risk factor for muscle injury. The C-to-T polymorphism (rs12722) in the 3'-untranslated region of the collagen type V ?1 chain gene (COL5A1) is reportedly associated with joint flexibility. Flexibility of a normal joint is largely determined by passive muscle stiffness, which is influenced by intramuscular collagenous connective tissues including type V collagen. The present study aimed to test the hypothesis that the COL5A1 rs12722 polymorphism influences joint flexibility via passive muscle stiffness, and is accordingly associated with the incidence of muscle injury. METHODS:In Study 1, we examined whether the rs12722 polymorphism is associated with joint flexibility and passive muscle stiffness in 363 healthy young adults. Joint flexibility was evaluated by passive straight-leg-raise and sit-and-reach tests, and passive muscle stiffness was measured using ultrasound shear wave elastography. In Study 2, the association of the rs12722 polymorphism with sports-related muscle injury was assessed in 1559 Japanese athletes. Muscle injury history and severity were assessed by a questionnaire. In both Study 1 and Study 2, the rs12722 C-to-T polymorphism in the COL5A1 was determined using the TaqMan SNP Genotyping Assay. RESULTS:Study 1 revealed that the rs12722 polymorphism had no significant effect on range of motion in passive straight-leg-raise and sit-and-reach tests. Furthermore, there was no significant difference in passive muscle stiffness of the hamstring among the rs12722 genotypes. In Study 2, rs12722 genotype frequencies did not differ between the muscle injury and no muscle injury groups. Moreover, no association was observed between rs12722 polymorphism and severity of muscle injury. CONCLUSIONS:The present study does not support the view that COL5A1 rs12722 polymorphism has a role as a risk factor for sports-related muscle injury, or that it is a determinant for passive muscle stiffness in a Japanese population.

Project description:BACKGROUND:Coronary artery disease (CAD) is a complex disease resulting from the cumulative and interactive effects of large number of genes along with environmental exposure. Therefore, the present study was envisaged as an effort to study the association of candidate genes ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with the risk of CAD, targeting the populations of Jammu (JandK). METHOD:A total of 400 confirmed CAD patients and 400 healthy controls were enrolled for the present study. Genotyping was done by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP). RESULTS:ESR1 gene (rs9340799) polymorphism was found to be associated with CAD in all the genetic models. The haplotype analysis of ESR1 (rs2234693 and rs9340799) gene revealed that C-G haplotype was conferring approximately 5-fold risk and T-A haplotype was adding 1.4-fold risk towards the disease. 'T' allele of MTHFR rs1801133 SNP was observed to be responsible for development of CAD in our study population (p?<?0.0001). In case of MTHFR (rs1801133 and rs2274976) gene, the haplotype T-G was observed to confer 4.7-fold risk towards CAD whereas haplotype C-G provided nearly a 1.7 fold protection towards development of CAD. For MS gene, rs185087 was also found to be associated with CAD in a co-dominant (p =?0.003 and p =?0.03), dominant (p =?0.001) and allelic models (p?=?0.001). The gene-gene interaction revealed strong epistasis between single nucleotide polymorphisms (SNPs), ESR1 rs9340799 and MTHFR rs2274976. Furthermore, the dendrogram for gene-environment dataset indicated moderately synergistic interaction between CETP rs708272 and physical inactivity. CONCLUSION:In the study under reference, a significant association of ESR1-XbaI (rs9340799), MTHFR C677T (rs1801133) and MS A2756G (rs185087) gene polymorphisms with the susceptibility of CAD in the population of Jammu region (JandK) has been observed.

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ESR1 rs2234693 Polymorphism Is Associated with Muscle Injury and Muscle Stiffness.

Publications

ESR1 rs2234693 Polymorphism Is Associated with Muscle Injury and Muscle Stiffness.

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