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首页> 外文期刊>Clinical journal of sport medicine: official journal of the Canadian Academy of Sport Medicine >Collagen genes and exercise-associated muscle cramping
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Collagen genes and exercise-associated muscle cramping

机译：胶原蛋白基因和运动相关的肌肉痉挛

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OBJECTIVE:: The authors hypothesized that variants within genes, such as COL5A1, COL3A1, COL6A1, and COL12A1, that code for connective tissue components of the musculoskeletal system may modulate susceptibility to exercise-associated muscle cramping (EAMC). Specifically, the aim of this study was to investigate if the COL5A1 rs12722 (C/T), COL3A1 rs1800255 (G/A), COL6A1 rs35796750 (T/C), and COL12A1 rs970547 (A/G) polymorphisms are associated with a history of EAMC. DESIGN:: Retrospective genetic case-control association study. SETTING:: Participants were recruited at triathlon and ultra-marathon events and were asked to report physical activity, medical history, and cramping history. PARTICIPANTS:: One hundred sixteen participants with self-reported history of EAMC within the past 12 months before an ultra-endurance event were included as cases in this study (EAMC group). One hundred fifty participants with no self-reported history of previous (lifelong) EAMC were included as controls (NON group). INTERVENTIONS:: All participants were genotyped for the selected variants. MAIN OUTCOME MEASURES:: Differences in genotype frequency distributions, for COL5A1 rs12722, COL3A1 rs1800255, COL6A1 rs35796750, and COL12A1 rs970547, among the cases and controls. RESULTS:: The COL5A1 CC genotype was significantly overrepresented (P = 0.031) among the NON group (21.8%) when compared with the EAMC group (11.1%). No significant genotype differences were found for the COL3A1 (P = 0.828), COL6A1 (P = 0.300), or COL12A1 (P = 0.120) genotypes between the EAMC and NON groups. CONCLUSIONS:: This study identified, for the first time, the COL5A1 gene as a potential marker for a history of EAMC.
机译：目的：作者假设基因编码的变异，例如COL5A1，COL3A1，COL6A1和COL12A1，它们编码肌肉骨骼系统的结缔组织成分，可能会调节与运动相关的肌肉痉挛（EAMC）的敏感性。具体而言，本研究的目的是调查COL5A1 rs12722（C / T），COL3A1 rs1800255（G / A），COL6A1 rs35796750（T / C）和COL12A1 rs970547（A / G）多态性是否与病史相关EAMC。设计：：回顾性遗传病例对照研究。地点：参加了铁人三项和超马拉松比赛的参与者，并被要求报告体育锻炼，病史和抽筋史。参与者：在本研究中纳入了超耐力事件发生前过去12个月内自我报告EAMC历史的116名参与者（EAMC组）。包括一百五十名无自我报告的以往（终身）EAMC病史的参与者作为对照组（NON组）。干预：：对所有参与者进行所选变异的基因分型。主要观察指标：病例与对照组之间COL5A1 rs12722，COL3A1 rs1800255，COL6A1 rs35796750和COL12A1 rs970547在基因型频率分布上存在差异。结果：与EAMC组（11.1％）相比，NON组（21.8％）中的COL5A1 CC基因型显着过高（P = 0.031）。 EAMC组和NON组之间没有发现COL3A1（P = 0.828），COL6A1（P = 0.300）或COL12A1（P = 0.120）基因型的显着基因型差异。结论：这项研究首次确定了COL5A1基因为EAMC病史的潜在标志。

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