EQTL variants in COL22A1 are associated with muscle injury in athletes.

Eri Miyamoto-Mikami,Noriyuki Fuku,Naokazu Miyamoto,Hiroshi Kumagai,Nobuhiro Kamiya,Naoki Kikuchi

doi:10.1152/physiolgenomics.00115.2020

Eri Miyamoto-Mikami, Noriyuki Fuku + Show 4 more

Open Access

https://doi.org/10.1152/physiolgenomics.00115.2020

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Abstract

The myotendinous junction (MTJ) is at high risk of muscle injury, and collagen XXII is strictly expressed at tissue junctions, specifically at the MTJ. We investigated the hypothesis that single-nucleotide polymorphisms (SNPs) related to collagen type XXII α-1 chain gene (COL22A1) mRNA expression are associated with susceptibility to muscle injury in athletes. History of muscle injury was assessed in 3,320 Japanese athletes using a questionnaire, and two expression quantitative trait loci (eQTL) SNPs for COL22A1 (rs11784270 A/C and rs6577958 T/C) were analyzed using the TaqMan SNP Genotyping Assay. rs11784270 [odds ratio (OR) = 1.80, 95% confidence interval (CI) = 1.27-2.62, P = 0.0006] and rs6577958 (OR = 1.45, 95% CI = 1.10-1.94, P = 0.0083) were significantly associated with muscle injury under A and T allele additive genetic models, respectively. These results suggest that the expression level of COL22A1 at the MTJ influences muscle injury risk in athletes.

Highlights

Muscle injury is one of the most common injuries in sports and negatively influences the performance of athletes and teams due to missed training time and unavailability for competition
We investigated the hypothesis that single-nucleotide polymorphisms (SNPs) related to collagen type XXII a-1 chain gene (COL22A1) mRNA expression are associated with susceptibility to muscle injury in athletes
History of muscle injury was assessed in 3,320 Japanese athletes using a questionnaire, and two expression quantitative trait loci SNPs for COL22A1 were analyzed using the TaqMan SNP Genotyping Assay. rs11784270 [odds ratio (OR) = 1.80, 95% confidence interval (CI) = 1.27–2.62, P = 0.0006] and rs6577958 (OR = 1.45, 95% CI = 1.10–1.94, P = 0.0083) were significantly associated with muscle injury under A and T allele additive genetic models, respectively

Summary

Introduction

Muscle injury is one of the most common injuries in sports and negatively influences the performance of athletes and teams due to missed training time and unavailability for competition. EQTL variants in COL22A1 are associated with muscle injury in athletes. First published November 9, 2020; doi:10.1152/physiolgenomics.00115.2020.—The myotendinous junction (MTJ) is at high risk of muscle injury, and collagen XXII is strictly expressed at tissue junctions, at the MTJ.

Results

Conclusion