The genetic landscape of Scotland and the Isles

Edmund Gilbert, Seamus O'Reilly, Michael Merrigan, Darren McGettingan, Veronique Vitart, Peter K Joshi, David W. Clark, Harry Campbell, Caroline Hayward, Susan Ring, Jean Golding, Stephanie Goodfellow, Pau Navarro, Shona M Kerr, Carmen Amador, Archie Campbell, Chris S Haley, David J Porteous, Gianpiero L Cavalleri, James F Wilson

Research output: Contribution to journalArticle (Academic Journal)peer-review

18 Citations (Scopus)
203 Downloads (Pure)


Britain and Ireland are known to show population genetic structure; however, large swathes of Scotland, in particular, have yet to be described. Delineating the structure and ancestry of these populations will allow variant discovery efforts to focus efficiently on areas not represented in existing cohorts. Thus, we assembled genotype data for 2,554 individuals from across the entire archipelago with geographically restricted ancestry, and performed population structure analyses and comparisons to ancient DNA. Extensive geographic structuring is revealed, from broad scales such as a NE to SW divide in mainland Scotland, through to the finest scale observed to date: across 3 km in the Northern Isles. Many genetic boundaries are consistent with Dark Age kingdoms of Gaels, Picts, Britons, and Norse. Populations in the Hebrides, the Highlands, Argyll, Donegal, and the Isle of Man show characteristics of isolation. We document a pole of Norwegian ancestry in the north of the archipelago (reaching 23 to 28% in Shetland) which complements previously described poles of Germanic ancestry in the east, and “Celtic” to the west. This modern genetic structure suggests a northwestern British or Irish source population for the ancient Gaels that contributed to the founding of Iceland. As rarer variants, often with larger effect sizes, become the focus of complex trait genetics, more diverse rural cohorts may be required to optimize discoveries in British and Irish populations and their considerable global diaspora.

Original languageEnglish
Pages (from-to)19064-19070
Number of pages7
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number38
Early online date3 Sept 2019
Publication statusPublished - 17 Sept 2019


  • Fine-scale structure
  • History
  • Migration
  • Population genetics


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