2017/01/19 by Amy M. Cole, Sean Cox, Choongwon Jeong +11 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Genetic Associations and Epidemiology #Genetic diversity and population structure #Gene flow #Genetic structure #Biology #Population #China #Evolutionary biology #Genetic variation #Gene pool #Geography #Genetics #Demography #Genetic diversity #Gene
paper · pdf · doi:10.1186/s12864-016-3469-5
openalex publication_date 2017/01/19 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/23
BACKGROUND: We set out to describe the fine-scale population structure across the Eastern region of Nepal. To date there is relatively little known about the genetic structure of the Sherpa residing in Nepal and their genetic relationship with the Nepalese. We assembled dense genotype data from a total of 1245 individuals representing Nepal and a variety of different populations resident across the greater Himalayan region including Tibet, China, India, Pakistan, Kazakhstan, Uzbekistan, Tajikistan and Kirghizstan. We performed analysis of principal components, admixture and homozygosity. RESULTS: We identified clear substructure across populations resident in the Himalayan arc, with genetic structure broadly mirroring geographical features of the region. Ethnic subgroups within Nepal show distinct genetic structure, on both admixture and principal component analysis. We detected differential proportions of ancestry from northern Himalayan populations across Nepalese subgroups, with the Nepalese Rai, Magar and Tamang carrying the greatest proportions of Tibetan ancestry. CONCLUSIONS: We show that populations dwelling on the Himalayan plateau have had a clear impact on the Northern Indian gene pool. We illustrate how the Sherpa are a remarkably isolated population, with little gene flow from surrounding Nepalese populations.