中国组织工程研究

中国组织工程研究 ›› 2016, Vol. 20 ›› Issue (20): 2957-2963.doi: 10.3969/j.issn.2095-4344.2016.20.010

• 组织构建与生物活性因子 tissue construction and bioactive factors • 上一篇    下一篇

EPAS1基因rs6756667多态性与藏族运动员的有氧运动能力

蒋 丽1，殷维瑶2，刘 建3，郭 慧4   

  1. 1成都体育学院运动医学系，四川省成都市  610041；2四川大学临床医学院，四川省成都市  610041；3成都体育学院高教研究室，四川省成都市  610041；4四川大学华西第二医院儿科，四川省成都市  610041
  • 收稿日期:2016-02-29 出版日期:2016-05-13 发布日期:2016-05-13
  • 通讯作者: 郭慧，博士，主治医师，四川大学华西第二医院儿科，四川省成都市 610041
  • 作者简介:蒋丽，女，1972年生，四川省绵阳市人，汉族，2010年四川大学毕业，博士，副教授，主要从事运动生理学的研究。 并列第一作者：殷维瑶，女，1988年生，四川省成都市人，汉族，四川大学在读博士，主要从事生殖内分泌研究。
  • 基金资助:

    2014年四川省科技计划项目(2014SZ0158)

EPAS1 gene rs6756667 polymorphism and aerobic exercise capacity of Tibetan athletes

Jiang Li1, Yin Wei-yao2, Liu Jian3, Guo Hui4   

  1. 1Department of Sports Medicine, Chengdu Sport University, Chengdu 610041, Sichuan Province, China; 2West China Second Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China; 3Higher Education Research Office of Chengdu Sport University, Chengdu 610041, Sichuan Province, China; 4Department of Pediatrics, West China Second University Hospital of Sichuan University Chengdu 610041, Sichuan Province, China
  • Received:2016-02-29 Online:2016-05-13 Published:2016-05-13
  • Contact: Guo Hui, M.D., Attending physician, Department of Pediatrics, West China Second University Hospital of Sichuan University Chengdu 610041, Sichuan Province, China
  • About author:Jiang Li, Doctor, Associate professor, Sports Medicine of Chengdu Sport University, Chengdu 610041, Sichuan Province, China Yin Wei-yao, Studying for doctorate, West China Second Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China Jiang Li and Yin Wei-yao contributed equally to this work.
  • Supported by:

    the Science and Technology Program of Sichuan Province, China, No. 2014SZ0158

PDF

231

被引次数

1

摘要：

文章快速阅读：

文题释义：
缺氧诱导因子1：是1992年Semenza和Wang首先发现的，随后确立了缺氧诱导因子1的结构，并证明了其cDNA的编码顺序。缺氧诱导因子1普遍存在于人和哺乳动物细胞内，常氧下(体积分数21%O2)也有表达，但合成的缺氧诱导因子1蛋白很快即被细胞内氧依赖性泛素蛋白酶降解途径所降解，只有在缺氧条件下缺氧诱导因子1才可稳定表达。
EPAS1：又称为缺氧诱导因子2α(HIF-2α)，该因子属于氧代谢调节因子，在人体内代谢、血管形成等方面均具有重要的作用。
多态性：是指以适当频率在一个群体的某个特定遗传位点(基因序列或非基因序列)发生2种或2种以上变异的现象，可通过直接分析DNA或基因产物来确定。

摘要
背景：有研究显示，EPSA1基因rs6756667位点A等位基因可能是藏族人群高原低氧适应的有利因素，而GG基因型可能是藏族运动员高原低氧适应的不利因素。
目的：比较藏族优秀耐力运动员与非体育专业藏族学生EPAS1基因rs6756667多态性位点基因型及分析其与有氧运动能力的关系。
方法：选择甘孜州中长跑运动队藏族运动员40例(运动员组)与甘孜州籍非体育专业藏族学生40例(学生组)，采用PCRHRM分析方法检测EPAS1基因rs6756667多态性位点基因型，搜集既往文献中藏族人群的基因多态性数据，与此次研究数据进行比较；采用双能X射线吸收骨密度仪检测两组受试者上肢、骨盆、下肢以及全身骨密度增长值。
结果与结论：rs6756667的3种AA、AG、GG基因型在学生组和运动员组中的频率分别为50%、47.5%、2.5%和72.5%、27.5%、0%，差异有显著性意义(P < 0.05)，其中GG基因型频率在学生组显著高于运动员组(P < 0.05)，而A等位基因频率与G等位基因频率在运动员组和学生组间的分布有显著差异(P=0.011，95% CI 0.459-0.908)；学生组上肢、骨盆、下肢、全身骨骨密度，显著高于运动员组(P < 0.05)。结果提示，EPAS1基因rs6756667多态性与藏族优秀耐力运动员有氧运动能力存在相关性，A等位基因可能是藏族运动员高原低氧适应和有氧运动能力的有利因素，而GG基因型可能是藏族运动员高原低氧适应和有氧运动能力的不利因素。

中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；
ORCID: 0000-0002-5745-7779(蒋丽)组织工程

关键词: 组织构建, 组织工程, 有氧运动能力, 藏族耐力运动员, EPAS1基因, 单核苷酸多态性, 高原低氧适应, 相关性, rs6756667多态性, 基因型, 骨密度

Abstract:

BACKGROUND: Emerging evidence shows that rs6756667 SNP EPAS1-A allele is beneficial for, however, the GG genotype is detrimental for adaptation to high-altitude hypoxia in Tibetan populations.
OBJECTIVE: To compare the EPAS1 gene rs6756667 polymorphism between Tibetan elite endurance athletes and Tibetan non-physical education major students and analyze its relationship to aerobic exercise capacity.
METHODS: Forty Tibetan athletes in Ganzi Tibetan middle and long distance athletes sports teams (athlete group) and forty Tibetan non-physical education major students in Ganzi (student group) were included in this study. The EPAS1 gene rs6756667 polymorphic loci were determined using PCR high-resolution melting analysis. The genetic polymorphism data from this study were compared with the data from previous studies. Increase values of bone mineral density in the pelvis, upper and lower limbs were determined by dual-energy X-ray absorptiometry.
RESULTS AND CONCLUSION: There were significant differences in the genotype frequencies of EPAS1 rs6756667 AA, AG and GG between student group (50%, 47.5%, 2.5%) and athlete group (72.5%, 27.5%, 0; P < 0.05). The genotype frequency of GG was significantly increased in student group compared with athlete group (P < 0.05). There were differences in the frequencies of A allele and G allele between both groups (95% CI: 0.459-0.908, P=0.011). Bone mineral density in the pelvis, upper and lower limbs and whole body was significantly higher in student group than athlete group (P < 0.05). These findings suggest that EPAS1 gene rs6756667 polymorphism is related to aerobic capacity of Tibetan elite endurance athletes. rs6756667 SNP EPAS1-A allele is beneficial for, however, the GG genotype is detrimental for adaptation to high-altitude hypoxia in Tibetan athletes.

中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；组织工程

Key words: Genes, Anoxia, Bone Density

中图分类号: