Associations of high altitude polycythemia with polymorphisms in EPHA2 and AGT in Chinese Han and Tibetan populations.
Associations of high altitude polycythemia with polymorphisms in EPHA2 and AGT in Chinese Han and Tibetan populations.
复制标题
中国汉族和藏族人群高原红细胞增多症与EPHA2和AGT多态性的关系
DOI：
10.18632/oncotarget.18384
复制
发表时间：
2017-08-08
期刊：
影响因子：
--
通讯作者：
Kang L
中科院分区：
文献类型：
--
作者：
Liu L;Zhang Y;Zhang Z;Zhao Y;Fan X;Ma L;Zhang Y;He H;Kang L
高原红细胞增多症(HAPC)是指长期生活在高原的低氧环境中，不习惯引起红细胞增殖。病理改变主要为各脏器组织充血、血瘀证和缺氧性损伤。虽然慢性低氧是HAPC的主要原因，但相关的分子机制仍不清楚。本研究旨在探讨HAPC在中国汉族和藏族人群中的遗传基础。入选HAPC患者100例(汉族70例，藏族30例)和健康对照组100例(汉族30例，藏族70例)。探讨HAPC的遗传基础，探讨中国汉族和藏族人群中EphA2与AGT和HAPC的相关性。经卡方检验和遗传模型分析，EphA2中的rs2291804、rs2291805、rs3768294、rs3754334、rs6603856、rs6669624、rs11260742、rs13375644和rs10907223以及AGT中的rs699、rs4762和rs5051与汉族人HAPC易感性降低相关。此外，在藏族人群中，AGT基因的rs2478523显示出HAPC的风险增加。我们的研究表明，EphA2和AGT基因的多态性与中国汉族和藏族人群对HAPC的易感性有关。
High altitude polycythemia (HAPC) refers to the long-term living in the plateau of the hypoxia environment is not accustomed to cause red blood cell hyperplasia. The pathological changes are mainly the various organs and tissue congestion, blood stasis and hypoxia damage. Although chronic hypoxia is the main cause of HAPC, the related molecular mechanisms remain largely unclear. This study aims to explore the genetic basis of HAPC in the Chinese Han and Tibetan populations. We enrolled 100 patients (70 Han, 30 Tibetan) with HAPC and 100 healthy control subjects (30 Han, 70 Tibetan). To explore the hereditary basis of HAPC and investigate the association between EPHA2 with AGT and HAPC in Chinese Han and Tibetan populations. Using the Chi-squared test and analyses of genetic models, rs2291804, rs2291805, rs3768294, rs3754334, rs6603856, rs6669624, rs11260742, rs13375644 and rs10907223 in EPHA2, and rs699, rs4762 and rs5051 in AGT showed associations with reduced HAPC susceptibility in Han populations. Additionally, in Tibetan populations, rs2478523 in AGT showed an increased the risk of HAPC. Our study suggest that polymorphisms in the EPHA2 and AGT correlate with susceptibility to HAPC in Chinese Han and Tibetan populations.
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影响因子：
4
作者：
Jeong, Choongwon;Di Rienzo, Anna
通讯作者：
Di Rienzo, Anna
影响因子：
--
作者：
Li K;Gesang L;Dan Z;Gusang L
通讯作者：
Gusang L
影响因子：
4.5
作者：
Jiang C;Chen J;Liu F;Luo Y;Xu G;Shen HY;Gao Y;Gao W
通讯作者：
Gao W
影响因子：
2.1
作者：
León-Velarde, F;Maggiorini, M;Zubieta-Calleja, G
通讯作者：
Zubieta-Calleja, G
DOI：
10.1073/pnas.1002443107
发表时间：
2010-06-22
影响因子：
11.1
作者：
Beall, Cynthia M.;Cavalleri, Gianpiero L.;Zheng, Yong Tang
通讯作者：
Zheng, Yong Tang