藏族登山运动员高原低氧生理效应与KIF1B基因的关联分析  

Correlation between the plateau hypoxia of physiological effects and KIF1B gene for Tibetan mountaineers

作　　者：次仁潘多 央拉[2] 尼玛玉珍[3] 次仁桑珠 普布 巴桑卓玛[2] Ciren-Panduo;Yangla;Nima-Yuzhen;Ciren-Sangzhu;Pubu;Basang-Zhuoma(Health service center of Yadong county,Shigatse,Yadong 857600,China;Research Center for High altitude Medical,School of Medicine,Tibet University;People's hospital of Tibet autonomous region;Tibet Lhasa Himalaya Mountaineering Guide School,Lhasa 850000,China)

机构地区：[1]日喀则市亚东县卫生服务中心,西藏亚东857600 [2]西藏大学医学院高原医学研究中心,西藏拉萨850000 [3]西藏自治区人民医院,西藏拉萨850000 [4]西藏拉萨喜马拉雅登山向导学校,西藏拉萨850000

出　　处：《高原科学研究》2019年第1期95-101,121,共8页Plateau Science Research

摘　　要：目的:探究西藏藏族登山运动员对高海拔低氧的特殊环境资源的适应机制,探索藏族登山运动员低氧适应的生理效应与KIF1B基因位点的相关性,为高原医学研究提供理论依据。方法:采用文献分析和问卷调查法,对79例藏族登山运动员和112例非运动员的普通世居藏族进行了基本体征和心肺功能、血生化等生理指标检测;并从千人基因组数据库里下载了208例的汉族样本用于比较和分析。选择了本课题组前期进行全基因组等位基因扫描所获得的高原适应相关候选基因KIF1B,对此进行进一步的扩大样本验证。利用HapMap datebank共选择4个SNP位点,用Sequenom MassArray平台对候选SNPs位点进行基因分型。利用Plink软件对所得数据进行数量性状关联分析。结果:藏族登山运动员与世居非运动员藏族最小等位基因频率差异显著(P <0.05)。针对KIF1B基因的4个SNP位点与表型数据进行数量性状关联分析,发现KIF1B基因上的rs17034716位点与血氧饱和度(SaO_2)及心脏射血分数(EF)显著相关(P <0.05);3个SNP位点(rs10492970、rs17034615和rs2297881)与主动脉内径(AO)相关(P <0.05)。藏族登山运动员与汉族间等位基因频率差异显著(P <0.05),尤其是KIF1B基因的rs17034716位点在藏族登山运动员与汉族间等位基因频率差异显著。结论:KIF1B基因4个SNP位点可能在藏族高原低氧适应中起到不容忽视的作用,且显示最小等位基因频率越高越有利于适应高原的倾向。遗传背景相同,生活环境相似的藏族登山运动员与世居非运动员藏族间等位基因频率显著差异的SNP位点有可能是运动相关的候选位点。数量性状关联分析发现KIF1B基因上的4个候选位点与血氧饱和度和主动脉内径以及射血分数相关。objective The adaptation mechanism of Tibetan mountaineers to the special environmental resources with high altitude and low oxygen and the correlation between the hypoxic adaptation of physiological effects and KIF1B gene locus for Tibetan mountaineers were explored,to provide theoretical basis for medical research on plateau.Methods Literature analysis and questionnaire surveys were conducted.The basic physical signs,cardiopulmonary functions,blood biochemistry and other physiological indexes of 79 Tibetan mountaineers and 112 non-athletes were measured.Also 208 Han Chinese samples were downloaded from the 1,000 gene database for comparison and analysis.Results The minimum allele frequency of Tibetan mountaineers was significantly different from non-Tibetan mountaineers(P<0.05).Quantitative trait correlation analysis was conducted on the four SNP sites and phenotypic data of KIF1B gene,and finding that the rs17034716 site on KIF1B gene was significantly correlated(P<0.05)with blood oxygen saturation(SaO2)and cardiac ejection fraction(EF).Three SNP(rs10492970,rs17034615 and rs2297881)sites were associated with(P<0.05)aortic diameter(AO).There was a significant difference between Tibetan mountaineers and Han Chinese in allele frequency,especially in rs17034716of KIF1B gene between Tibetan mountaineers and Han Chinese.Conclusion The four SNP loci of KIF1B gene may play an important role in the adaptation of hypoxiaon the Tibetan plateau showing that the higher the frequency of the minimum allele,the more favorableadaptation to the plateau.The SNP locus were significant difference with allele frequency between Tibetan mountaineers with the same genetic background and non-Tibetan athletes living in similar environment,and non-Tibetan athletes living in the same environment.It can be the candidate locus related to sports.The four candidate sites on KIF1B gene were correlated with oxygen saturation,aortic diameter and ejection fraction were found the quantitative trait correlation analysis.

关 键 词：藏族 藏族登山运动员 高原适应 基因多态性 

分 类 号：G881[文化科学—体育训练]