Abstract
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 (3.4 kb 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.
Highlights
Sherpas living in Khumbu region of Nepal are renowned for their superior capacity for climbing Himalayas
Sherpa individuals carrying the derived alleles of EPAS1, EGLN1 and Tibetanenriched deletion (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
Summary
Sherpas living in Khumbu region of Nepal are renowned for their superior capacity for climbing Himalayas. Most of the Sherpa people are involved in mountaineering field as climbers, porters, and trekking guides and have displayed extraordinary adaptive behavior at high altitude Such distinctive traits seen in Sherpa staying permanently at high altitude are lower ventilatory response (Lahiri et al 1967), larger spirometric values (Havryk et al 2002), relatively lower hemoglobin concentrations (Adams and Shresta 1974; Beall and Reichsman 1984), higher arterial oxygen saturation (Hackett et al 1980; Keyl et al 2000), higher affinity of blood for oxygen (Morpurgo et al 1976), higher heart rate (Pugh and Evans 1962), less psycho-neurological symptoms (Garrido et al 1996), and higher work economy (Bastien et al 2005). The genetic basis of their adaptation to high-altitude environments remains elusive
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