The myotendinous junction (MTJ) is at high risk of muscle injury, and the 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 alpha 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.

中文翻译：

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COL22A1 中的 eQTL 变异与运动员的肌肉损伤有关

肌腱连接处 (MTJ) 处于肌肉损伤的高风险中，胶原蛋白 XXII 在组织连接处严格表达，特别是在 MTJ。我们调查了与 XXII 型胶原蛋白 α 1 链基因 (COL22A1) mRNA 表达相关的单核苷酸多态性 (SNP) 与运动员肌肉损伤易感性相关的假设。使用问卷调查了 3,320 名日本运动员的肌肉损伤史，并使用 TaqMan ^®分析了 COL22A1（rs11784270 A/C 和 rs6577958 T/C）的两个表达数量性状基因座 (eQTL) SNPSNP 基因分型分析。rs11784270（优势比 [OR] = 1.80，95% 置信区间 [CI] = 1.27-2.62，P=0.0006）和 rs6577958（OR = 1.45，95% CI = 1.10-1.94，P=0.00）与肌肉显着相关分别在 A 和 T 等位基因加性遗传模型下的损伤。这些结果表明，MTJ 处 COL22A1 的表达水平会影响运动员的肌肉损伤风险。