title: Genetic structure in the Sherpa and neighboring Nepalese populations.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, Dublin, Ireland.
authors.forename: Amy M
authors.initials: AM
authors.lastname: Cole
authors.affiliation: Centre for Human Health and Performance, and Institute for Sport, Exercise and Health, University College London, London, UK.
authors.forename: Sean
authors.initials: S
authors.lastname: Cox
authors.affiliation: Department of Human Genetics, University of Chicago, Chicago, USA.
authors.forename: Choongwon
authors.initials: C
authors.lastname: Jeong
authors.affiliation: Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
authors.forename: Nayia
authors.initials: N
authors.lastname: Petousi
authors.affiliation: Paropakar Maternity and Women's Hospital, Thapathali, Kathmandu, Nepal.
authors.forename: Dhana R
authors.initials: DR
authors.lastname: Aryal
authors.affiliation: First Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Yunden
authors.initials: Y
authors.lastname: Droma
authors.affiliation: First Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Hanaoka
authors.affiliation: Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Masao
authors.initials: M
authors.lastname: Ota
authors.affiliation: Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Nobumitsu
authors.initials: N
authors.lastname: Kobayashi
authors.affiliation: University of Triests, Trieste, Italy.|Division of Experimental Genetics, Sidra, Doha, Qatar.
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.affiliation: Centre for Human Health and Performance, and Institute for Sport, Exercise and Health, University College London, London, UK.
authors.forename: Hugh
authors.initials: H
authors.lastname: Montgomery
authors.affiliation: Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Robbins
authors.affiliation: Department of Human Genetics, University of Chicago, Chicago, USA.
authors.forename: Anna
authors.initials: A
authors.lastname: Di Rienzo
authors.affiliation: Department of Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, Dublin, Ireland. gcavalleri@rcsi.ie.
authors.forename: Gianpiero L
authors.initials: GL
authors.lastname: Cavalleri
mesh_terms: D044466:Asian People / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D004247:DNA / Q000302:isolation & purification / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D051456:Gene Flow; D005838:Genotype; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D016013:Likelihood Functions; D009390:Nepal; D025341:Principal Component Analysis
chemical_list: D004272:DNA, Mitochondrial; D004247:DNA
keywords: Admixture; Consanguinity; Gene flow; Nepal; Nepalese; Sherpa; Subpopulations; Tibetan; principal component analysis