HIF-1α和MB及eNOS基因多态性与藏族登山运动员表型特征的关联分析

发布时间：2018-05-30 06:02

本文选题：登山运动员 + 基因多态性　；参考：《重庆医学》2015年20期

【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(P0.05)。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。
[Abstract]:Objective to investigate the relationship between the gene polymorphisms of hypoxia inducible factor 1 伪 (HIF-1 伪), myoglobin (MBB) and endothelial nitric oxide synthase (Enos) and the phenotypic characteristics of Tibetan climbers, and to find out the polymorphic loci of candidate genes that are beneficial to altitude adaptation and hypoxic exercise. To provide reference and theoretical basis for early scientific selection of athletes. Methods according to the literature and the contents of the study, we designed a questionnaire, signed the informed consent form, carried out the basic signs, cardiopulmonary function and blood biochemical tests, and selected 14 tSNPs loci by using the candidate gene strategy, 3 candidate genes using HapMap databank. Taqman probe technique was used to complete the genotyping of all effective samples, and the data were analyzed by plink software. Results the clinical phenotypic data and blood samples of 115 Tibetan professional mountaineers were obtained, and 109 qualified blood samples were used for genotyping. The 14 SNPs loci of 3 candidate genes were correlated with quantitative traits of phenotypic data. It was found that one SNP on the eNOS gene was associated with 2 SNP of the HIF-1 伪 gene and the right ventricular outflow tract (RVOT) of the HIF-1 伪 gene. There was a significant correlation between aortic diameter and mean platelet volume, while two SNPs on MB were significantly correlated with hemoglobin concentration, erythrocyte distribution width and platelet count (P 0.05). Conclusion some polymorphism of HIF-1 伪, eNOS and MB are associated with cardiac function and hematological parameters by association analysis.
【作者单位】：西藏大学医学院高原医学研究中心;中国科学院北京基因组研究所;西藏自治区人民医院B超室;北京大学肿瘤医院遗传室;
【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
【分类号】：R87

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