Poster Presentation Society for Molecular Biology and Evolution Conference 2016

Sherpas share genetic variations with Tibetans for high-altitude adaptation (#318)

Sushil Bhandari 1 , Chaoying Cui 2 , Xiaoming Zhang 1 , Yangla X 2 , Lan Liu 2 , Ouzhuluobu X 2 , Baimakangzhuo X 2 , Gonggalanzi X 2 , Caijuan Bai 2 , Bianba X 2 , Yi Peng 1 , Hui Zhang 1 , Kun Xiang 1 , Hong Shi 1 , Shimin Liu 3 , Gengdeng X 3 , Tianyi Wu 3 , Xuebin Qi 1 , Bing Su 1
  1. Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, YUNNAN, China
  2. High Altitude Medical Research Center, School of Medicine, Tibetan University, Lhasa, Tibet Autonomous Region, China
  3. National Key Laboratory of High Altitude Medicine, High Altitude Medical Research Institute, Xining, Qinghai, China

Sherpas, a highlander population living in Khumbu region of Nepal, are well known for their superior climbing ability in Himalayas. But the genetic basis of their adaptation in highland region remains largely unknown. Here, we collected DNA samples of 582 Sherpas from Nepal and Tibet of China, and we measured their hemoglobin levels and degrees of blood oxygen saturation. We conducted genotyping of 32 sequence variants of three genetic loci, including EPAS1, EGLN1 and TED, which have been shown involved in high altitude adaptation of Tibetans. We found similar allele frequencies of all tested variants in Sherpas as compared with Tibetans, and most of the variants showed significant association with hemoglobin levels, but not with degrees of blood oxygen saturation. We propose that the shared sequence variants between Sherpas and Tibetans indicate a shared genetic basis for high altitude adaptation, consistent with the proposal that Sherpas are recently derived population from Tibetans and they inherited the adaptive variants for high altitude adaptation from their Tibetan ancestors.