Ⅴ型胶原蛋白ａ1链基因多态性与有氧耐力表型的关联性
Relationship Between COL5A1 Gene Polymorphisms and Aerobic Phenotypes

摘要：目的：通过分析Ⅴ型胶原蛋白ａ1链（COL5A1）基因多态性与60名中国北方汉族女子专业长跑运动员机能指标的关联性，探寻预测有氧耐力表型的分子标记。方法：采用联合测试法测得无氧阈和最大摄氧量相关指标，肺功仪测得肺功相关指标。用PCR-RFLP分析COL5A1基因的rs13946、rs12722多态性。结果：1）rs12722位点：不同基因型运动员之间无氧阈摄氧量、无氧阈摄氧量相对值有显著性差异（P<0.05），TT型运动员显著大于CC和CT型。2）rs13946位点：该位点与有氧耐力表型以及肺功之间无关联（P<0.05）。3）rs13946-rs12722单体型：携带TC单体型运动员的无氧阈摄氧量和无氧阈摄氧量相对值指标均显著高于非TC单体型运动员（P<0.025）。结论：1）COL5A1 rs12722 TT基因型可作为预测中国北方汉族女子长跑运动员无氧阈强度下机体氧耗量的分子遗传学标记。2）TC单体型可作为预测北方汉族女子长跑运动员无氧阈摄氧量及其相对值指标的分子遗传学标记。
Abstract: Objective: This study aimed to explore the genetic markers for aerobic phenotypes by analyzing the relationship between COL5A1 gene polymorphisms and physical performance in 60 female long-distance runners of China Han nationality. Methods: The anaerobic threshold and maximal oxygen intake (VO2max) were measured by joint test, pulmonary function indexes were tested by pulmonary function meter. COL5A1 gene polymorphism (rs13946 and rs12722) were explored by PCR-RFLP. Results: 1）The absolute and relative values of VO2AT were different in athletes with different genes (rs12722) (P < 0.05), they were higher in TT genotype athletes than those in CC and CT genotype athletes. 2) COL5A1 gene polymorphism(rs13946) was not associated with any index of aerobic endurance and pulmonary function (P > 0.05). 3) The absolute and relative values of VO2AT of carriers of TC haplotype (rs13946-rs12722) were higher than those of the non-carriers(P < 0.05). Conclusion: 1）The TT genotype of rs12722 might be the genetic marker to predict oxygen uptake at anaerobic threshold intensity in female long-distance runners of China Han nationality. 2）The TC haplotype might be the genetic marker to predict the absolute and relative values of VO2AT in female long-distance runners of China Han nationality