Regionally enriched rare deleterious exonic variants in the UK and Ireland

Mihail Halachev (), Viktoria-Eleni Gountouna, Alison Meynert, Gannie Tzoneva, Alan R. Shuldiner, Colin A. Semple and James F. Wilson
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Mihail Halachev: University of Edinburgh
Viktoria-Eleni Gountouna: University of Edinburgh
Alison Meynert: University of Edinburgh
Gannie Tzoneva: Regeneron Genetics Center
Alan R. Shuldiner: Regeneron Genetics Center
Colin A. Semple: University of Edinburgh
James F. Wilson: University of Edinburgh

Nature Communications, 2024, vol. 15, issue 1, 1-14

Abstract: Abstract It is unclear how patterns of regional genetic differentiation in the UK and Ireland might impact the protein-coding fraction of the genome. We exploit UK Biobank (UKB) and Viking Genes whole exome sequencing data to study regional genetic differentiation across the UK and Ireland in protein coding genes, encompassing 44,696 unrelated individuals from 20 regions of origin. We demonstrate substantial exonic differentiation among Shetlanders, Orcadians, individuals with full or partial Ashkenazi Jewish ancestry and in several mainland regions (particularly north and south Wales, southeast Scotland and Ireland). With stringent filtering criteria, we find 67 regionally enriched (≥5-fold) variants likely to have adverse biomedical consequences in homozygous individuals. Here, we show that regional genetic variation across the UK and Ireland should be considered in the design of genetic studies and may inform effective genetic screening and counselling.

Date: 2024
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DOI: 10.1038/s41467-024-51604-2

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