摘要
目的探讨低氧诱导因子-1α(HIF-1α)、肌红蛋白(MB)和内皮型一氧化氮合酶(eNOS)的基因多态性与藏族登山运动员表型特征的关系,找出候选基因中有利于高原适应和低氧运动的多态性位点,为运动员早期的科学选材提供参考和理论依据。方法依据文献和研究内容自行设计问卷调查表,签订知情同意书;进行基本体征及心肺功能和血生化检测;利用候选基因策略,3个候选基因利用HapMap databank共选择14个tSNPs位点,用Taqman探针技术完成了全部有效样本的基因分型工作,采用plink软件对所得数据进行关联分析。结果 115例西藏专业登山运动员的临床表型数据及血液样本,最终有109例合格的血液样本用于基因分型。对3个候选基因的14个SNPs位点与表型数据的数量性状进行了关联分析,发现eNOS基因上一个SNP与室间隔膜厚度相关;HIF-1α基因的2个SNP与右室流出道,主动脉内径及平均血小板体积显著相关;而MB上2个SNPs与血红蛋白浓度,红细胞分布宽度及血小板计数显著相关(P<0.05)。结论通过关联分析提示HIF-1α和eNOS及MB上的一些位点多态性与心功能和血液学的一些指标相关。
Objective Discuss the connection between the genetic polymorphism of hypoxia inducible factor 1α （HIF-1α）, myoglobin （Mb）,endothelial nitric oxide synthase（eNOS） and the phenotypes of Tibetan alpinists, to figure out the polymorphism of candidate gene which conductive athletes sport ability, and thus to provide references and theoretical standards in genetic level for selection and qualification of athlete. Methods We designed questionnaire according to literature and research contents, and signed agreement of informed consent form. The physical signs, cardio-pulmonary functions and blood bio-chemical was measured; HIF-1α, Mb and eNOS were selected with candidate gene strategy and 14 tSNPs were chosen via HapMap databank. All valid sample genes classification was achieved with Taqman probe and association analysis was performed with software plink. Results In current study we collected 115 Tibetan alpinistsr clinical phenotypically data and blood samples and finally 109 blood samples were available for genetic analysis. According to the association study,one SNP on eNOS gene was found significantly associated with inter ven- tricular septal thickness;two SNP on HIF-1α gene were significantly associated with right ventricular outflow tract,aortic dimen- sion and mean platelet volume;while two SNPs on Mb were significantly associated with hemoglobin, red blood cell volume distribu- ting width and platelet（P〈0.05）. Conclusion Association study showed some polymorphic SNPs on HIF-1α,Mh and eNOS are related with cardiac and hematological indicators.
出处
《重庆医学》
CAS
北大核心
2015年第20期2796-2798,2804,共4页
Chongqing medicine
基金
国家自然科学基金资助项目(81060161)
教育部科学技术司资助项目(210215)
2010年西藏自治区科技厅重点科技资助项目
关键词
登山运动员
基因多态性
高原适应
运动能力
关联分析
alpinist
genetic polymorphism
high altitude adaption
exercise capacity
association study
