ArticleMolecular biology and evolution2018
Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations.
Article in Molecular biology and evolution, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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35 citing papers in PubMed, 57 citations in OpenAlex.
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- Dynamic human admixture histories over the past ~1300 years at the northern Himalayan frontier.Science advances · 2025Article
- Tracing the Genetic Heritage of the Kirgiz People: Dual-Wave Admixture and Ancestry-Biased Adaptation.Molecular biology and evolution · 2025Article
- Population histories of the Indigenous Adivasi and Sinhalese from Sri Lanka using whole genomes.Current biology : CB · 2025Article
- Genetic insights into forensic features and population structure of the Hajong tribe in the Indian regions of Eastern Himalaya.Molecular genetics and genomics : MGG · 2025Article
- Transforming health in Nepal: a historical and contemporary review on disease burden, health system challenges, and innovations.Health research policy and systems · 2025Review
- Convergent evolution of complex adaptive traits modulates angiogenesis in high-altitude Andean and Himalayan human populations.Communications biology · 2025Article
- The genetic demographic history of the last hunter-gatherer population of the Himalayas.Scientific reports · 2025Article
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- Genetic architecture and socio-environmental risk factors for major depressive disorder in Nepal.Psychological medicine · 2024Article
- Hypobaric hypoxia drives selection of altitude-associated adaptative alleles in the Himalayan population.The Science of the total environment · 2024Article
- Exploring the role of theFrontiers in genetics · 2024Article
- Genetic Origins and Adaptive Evolution of the Deng People on the Tibetan Plateau.Molecular biology and evolution · 2023Article
- Genomic Variation, Population History, and Long-Term Genetic Adaptation to High Altitudes in Tibetan Partridge (Perdix hodgsoniae).Molecular biology and evolution · 2023Article
- Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures.Human genomics · 2022Review
- Population-specific, recent positive selection signatures in cultivated Cucumis sativus L. (cucumber).G3 (Bethesda, Md.) · 2022Article
- Ancient genomes from the Himalayas illuminate the genetic history of Tibetans and their Tibeto-Burman speaking neighbors.Nature communications · 2022Article
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Authors and funding
15 authors at 7 institutions in 6 countries.
Funding
Abstract
We genotyped 738 individuals belonging to 49 populations from Nepal, Bhutan, North India, or Tibet at over 500,000 SNPs, and analyzed the genotypes in the context of available worldwide population data in order to investigate the demographic history of the region and the genetic adaptations to the harsh environment. The Himalayan populations resembled other South and East Asians, but in addition displayed their own specific ancestral component and showed strong population structure and genetic drift. We also found evidence for multiple admixture events involving Himalayan populations and South/East Asians between 200 and 2,000 years ago. In comparisons with available ancient genomes, the Himalayans, like other East and South Asian populations, showed similar genetic affinity to Eurasian hunter-gatherers (a 24,000-year-old Upper Palaeolithic Siberian), and the related Bronze Age Yamnaya. The high-altitude Himalayan populations all shared a specific ancestral component, suggesting that genetic adaptation to life at high altitude originated only once in this region and subsequently spread. Combining four approaches to identifying specific positively selected loci, we confirmed that the strongest signals of high-altitude adaptation were located near the Endothelial PAS domain-containing protein 1 and Egl-9 Family Hypoxia Inducible Factor 1 loci, and discovered eight additional robust signals of high-altitude adaptation, five of which have strong biological functional links to such adaptation. In conclusion, the demographic history of Himalayan populations is complex, with strong local differentiation, reflecting both genetic and cultural factors; these populations also display evidence of multiple genetic adaptations to high-altitude environments.
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