A genetic adaptive pattern-low hemoglobin concentration in the himalayan highlanders  

作　　者：Tian-yi WU Feng-yun LIU Ouzhou-LOUBU Chao-ying CUI Xue-bin QI Bing SU 

机构地区：[1]National Key Laboratory of High Altitude Medicine, High Altitude Medical Research Institute [2]High Altitude Medical Research Center, University of Tibet [3]State Key Laboratory of Genetic Resources and Evolution,Kunming Institute of Zoology, Academy of Science

出　　处：《中国应用生理学杂志》2013年第6期481-493,共13页Chinese Journal of Applied Physiology

基　　金：supported by the"973"National Basic Research Program(2012 CB 518202,and"Pre-973"National Basic Research Program(2012 CB 722506),PRC

摘　　要：Mean hemoglobin(Hb) concentration of about 3 500 subjects derived from 17 studies of Himalayan highlanders(Tibetans, Sherpas, and Ladakhis) was compared with lowlanders(Chinese Han, Indian Tamils) lived in the Himalayas, and European climbers during Everest expeditions as well as Andean natives. The results found that Hb concentration in Himalayan highlanders was systemically lower than those reported for Andean natives and lowland immigrants. These comparative data demonstrated that a healthy native population may successfully reside at high altitude without a significant elevation in Hb, and the lower Hb levels of Himalayan highlanders than those of migrated lowlanders and Andean natives are an example of favourable adaptation over the generations. In addition, excessive polycythemia has frequently been used as a marker of chronic mountain sickness(CMS). Altitude populations who have a higher Hb concentration also have a higher incidence of CMS. The low Hb in Himalayans suggested as showing adaptation over many generations in Tibetan stock. Recent work in Tibet, suggested that Tibetans there may have adapted to high altitude as a result of evolutionary pressure selecting for genes which give an advantage at altitude. All of the population genomic and statistical analysis indicated that EPAS1 and EGLN1 are mostly likely responsible for high altitude adaptation and closely related to low Hb concentration in Tibetans. These data supported the hypothesis that Himalayan highlanders have evolved a genetically different erythropoietic response to chronic hypoxia by virtue of their much longer exposure to high altitude.Mean hemoglobin （Hb） concentration of about 3 500 subjects derived from 17 studies of Himalayan highlanders （Tibetans, Sherpas, and Ladakhis） was compared with lowlanders （Chinese Han, Indian Tamils） lived in the Himalayas, and European climbers during Everest expeditions as well as Andean natives. The results found that Hb concentration in Himalayan highlanders was systemically lower than those reported for Andean natives and lowland immigrants. These comparative data demonstrated that a healthy native population may successfully reside at high altitude without a significant elevation in Hb, and the lower Hb levels of Himalayan highlanders than those of migrated lowlanders and Andean natives are an example of favourable adaptation over the generations. In addition, excessive polycythemia has frequently been used as a marker of chronic mountain sickness （CMS）. Altitude populations who have a higher Hb concentration also have a higher incidence of CMS. The low Hb in Himalayans suggested as showing adaptation over many generations in Tibetan stock. Recent work in Tibet, suggested that Tibetans there may have adapted to high altitude as a result of evolutionary pressure selecting for genes which give an advantage at altitude. All of the population genomic and statistical analysis indicated that EPAS1 and EGLN1 are mostly likely responsible for high altitude adaptation and closely related to low Hb concentration in Tibetans. These data supported the hypothesis that Himalayan highlanders have evolved a genetically different erythropoietic response to chronic hypoxia by virtue of their much longer exposure to high altitude.

关 键 词：血红蛋白浓度 喜马拉雅山 自适应模式 高地 高海拔地区 遗传 基因组 中国汉族 

分 类 号：S153.61[农业科学—土壤学] O434.3[农业科学—农业基础科学]