Journal
MOLECULAR GENETICS & GENOMIC MEDICINE
Volume 5, Issue 1, Pages 76-84Publisher
WILEY
DOI: 10.1002/mgg3.264
Keywords
Genetic adaptation; high altitude; hypoxia; Sherpa; Tibetan
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Funding
- Strategic Priority Research Program of the Chinese Academy of Sciences [XDB13010000]
- National 973 Program of China [2012CB518202]
- National Natural Science Foundation of China [91231203]
- State Key Laboratory of Genetic Resources and Evolution Opening Project [GREKF13-04, GREKF12-04]
- Zhufeng Scholar Program of Tibetan University
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BackgroundSherpas, a highlander population living in Khumbu region of Nepal, are well known for their superior climbing ability in Himalayas. However, the genetic basis of their adaptation to high-altitude environments remains elusive. MethodsWe collected DNA samples of 582 Sherpas from Nepal and Tibetan Autonomous Region of China, and we measured their hemoglobin levels and degrees of blood oxygen saturation. We genotyped 29 EPAS1 SNPs, two EGLN1 SNPs and the TED polymorphism (3.4kb deletion) in Sherpas. We also performed genetic association analysis among these sequence variants with phenotypic data. ResultsWe found similar allele frequencies on the tested 32 variants of these genes in Sherpas and Tibetans. Sherpa individuals carrying the derived alleles of EPAS1 (rs113305133, rs116611511 and rs12467821), EGLN1 (rs186996510 and rs12097901) and TED have lower hemoglobin levels when compared with those wild-type allele carriers. Most of the EPAS1 variants showing significant association with hemoglobin levels in Tibetans were replicated in Sherpas. ConclusionThe shared sequence variants and hemoglobin trait between Sherpas and Tibetans indicate a shared genetic basis for high-altitude adaptation, consistent with the proposal that Sherpas are in fact a recently derived population from Tibetans and they inherited adaptive variants for high-altitude adaptation from their Tibetan ancestors.
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