UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Clin J Sport Med. 2013 Jan;23(1):64-9. doi: 10.1097/JSM.0b013e3182686aa7.
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.
Retrospective genetic case-control association study.
Participants were recruited at triathlon and ultra-marathon events and were asked to report physical activity, medical history, and cramping history.
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).
All participants were genotyped for the selected variants.
Differences in genotype frequency distributions, for COL5A1 rs12722, COL3A1 rs1800255, COL6A1 rs35796750, and COL12A1 rs970547, among the cases and controls.
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.
This study identified, for the first time, the COL5A1 gene as a potential marker for a history of EAMC.
作者假设，编码肌肉骨骼系统结缔组织成分的基因（如 COL5A1、COL3A1、COL6A1 和 COL12A1）中的变体可能会影响运动相关性肌肉痉挛（EAMC）的易感性。具体而言，本研究旨在调查 COL5A1 rs12722（C/T）、COL3A1 rs1800255（G/A）、COL6A1 rs35796750（T/C）和 COL12A1 rs970547（A/G）多态性是否与 EAMC 病史相关。
回顾性遗传病例对照关联研究。
参与者是在三项全能运动和超长距离马拉松赛事中招募的，要求他们报告身体活动、病史和抽筋病史。
116 名参与者在超长耐力赛事前的 12 个月内报告有 EAMC 病史，被纳入本研究（EAMC 组）作为病例。150 名参与者没有报告以往（终身）EAMC 病史，被纳入对照组（NON 组）。
对所有参与者进行了选定变体的基因分型。
EAMC 组和 NON 组之间 COL5A1 rs12722、COL3A1 rs1800255、COL6A1 rs35796750 和 COL12A1 rs970547 基因型频率分布的差异。
与 EAMC 组（11.1%）相比，NON 组的 COL5A1 CC 基因型明显更为常见（P = 0.031）。EAMC 组和 NON 组之间 COL3A1（P = 0.828）、COL6A1（P = 0.300）或 COL12A1（P = 0.120）基因型无显著差异。
本研究首次确定 COL5A1 基因是 EAMC 病史的潜在标志物。
