EPAS1基因SNPrs13419896多态性与HiHiLo低氧训练适应效果关联性研究  

Association between SNP rs13419896 in EPAS1 gene and physiological variation response to Hi Hi Lo hypoxic training

作　　者：汪洪波[1] 刘海平[1,2] 毛颖颖[1] 

机构地区：[1]温州医科大学体育科学学院,浙江温州325035 [2]温州医科大学低氧医学研究所,浙江温州325035

出　　处：《山东体育学院学报》2015年第1期75-79,共5页Journal of Shandong Sport University

基　　金：国家自然科学基金资助项目(30470834);浙江省教育厅课题资助(Y201327713)

摘　　要：目的:选取EPAS1基因序列第1内含子序列上rs13419896 G/A单核苷酸多态(single nucleotide polymorphism,SNP)位点,研究其与Hi Hi Lo低氧训练后生理表型指标关联性,探寻预测低氧训练效果的遗传学标记。方法:选取35名北方汉族健康受试者(平均年龄19.54±2.55岁,平均身高177.94±4.27 cm,平均体重68.07±5.579 kg)在模拟海拔2 500 m高度(低氧环境O2浓度为15.4%)进行4周高住-高练-低训(living high-exercise high-training low,Hi Hi Lo)。采用关联研究方法(Association-Study),运用聚合酶链反应和基因测序实验技术分析EPAS1基因SNP rs13419896位点,研究该位点与4周Hi Hi Lo低氧训练后最大摄氧量(maximal oxygen uptake,VO2max)、血红蛋白(hemoglobin,Hb)、红细胞数(red blood cell,RBC)等生理表型指标变化的关联性。结果:1)EPAS1基因SNP rs13419896位点中GG、GA、AA基因型频率分别为40%、51.43%和8.57%,符合Hardy-weinberg遗传平衡定律(x2=0.70,P=0.40)。2)4周低氧训练后,EPAS1基因SNPrs13419896基因型组间ΔVO2max、Δr VO2max、ΔRBC及ΔHb均无显著性差异。合并AA(AA基因型只有3例)与GA基因型统计发现,GA基因型受试者经4周低氧训练后,VO2max绝对值、相对值增长幅度有好于GG基因型趋势(76.17±245.31 ml/min vs-5.29±276.42 ml/min,P=0.09;1.22±3.37 ml/min·kg vs 0.13±4.18 ml/min·kg,P=0.09)。结论:平原人群4周Hi Hi Lo低氧训练后,EPAS1基因第1内含子序列上SNP rs13419896多态位点与VO2max指标变化可能存在着一定关联性。Objective：This paper researched association between a single nucleotide polymorphisms rs13419896 （SNP rs13419896）in EPAS1 gene and physiological phenotype parameters response to hypoxia training.Methods：35 healthy subjects completed 4 weeks living high -exercise high-training low （HiHiLo）programs.The SNP rs13419896 in EPAS1 gene was analyzed by gene se-quencing,and maximal oxygen uptake （VO2max）,hemoglobin （Hb）and red blood cell （RBC） were measured before and after HiHiLo.Then,we investigated association between SNP rs13419896 in EPAS1 gene and physiological phenotype parameters variation response to hypoxia training.Re-sults：1）The genotypes frequency of SNP rs13419896 in EPAS1 were as follows：GG （40%）,GA （51.43%）,AA （8.57%）and genotype distributions were in Hardy -Weinberg equilibrium among all subjects （x2 =0.70,P =0.40）.2）After 4 weeks HiHiLo,there were not significant differ-ences in ΔVO2max,ΔrVO2max,ΔRBC and ΔHb between genotypes of SNP rs13419896 in EPAS1 gene.But we found that the value of VO2max,ΔrVO2max in subjects with GA genotype indicated higher tendency than those in AA genotype （76.17 ±245.31 ml /min vs -5.29 ±276.42 ml /min, P =0.09;1.22 ±3.37 ml /minokg vs 0.13 ±4.18 ml /minokg,P =0.09）when AA genotype （only 3 subjects ） was merged into GA genotype.Conclusion：These findings suggested that SNP rs13419896 in EPAS1 gene was possibly associated with the change of VO2max after hypoxia train-ing,and GA genotype showed a certain advantage.

关 键 词：内皮PAS结构 域蛋白1 高住-高练-低训 单核苷酸多态性 

分 类 号：G804.7[文化科学—运动人体科学]