eQTL variants in COL22A1 are associated with muscle injury in athletes
eQTL variants in COL22A1 are associated with muscle injury in athletes
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DOI：
10.1152/physiolgenomics.00115.2020
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发表时间：
2020-12-01
影响因子：
4.6
通讯作者：
Fuku, Noriyuki
中科院分区：
文献类型：
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作者：
Miyamoto-Mikami, Eri;Kumagai, Hiroshi;Fuku, Noriyuki
肌腱连接（MTJ）处于肌肉损伤的高风险中，并且胶原XXII在组织连接处严格表达，特别是在MTJ处。我们研究了与XXII型胶原α-1链基因（COL 22 A1）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。使用问卷调查对3，320名日本运动员的肌肉损伤史进行了评估，并使用TaqMan SNP基因分型试验分析了COL 22 A1的两个表达数量性状位点（eQTL）SNP（rs 11784270 A/C和rs6577958 T/C）。rs 11784270 [OR = 1.80，95%CI = 1.27-2.62，P = 0.0006]和rs6577958 [OR =1.45，95%CI =1.10-1.94，P = 0.0083]分别与A和T等位基因加性遗传模型下的肌肉损伤显著相关。这些结果表明，在MTJ的COL 22 A1的表达水平影响运动员肌肉损伤的风险。
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 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.