People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population

Bruce Winney, Abdelhamid Boumertit, Tammy Day, Dan Davison, Chikodi Echeta, Irina Evseeva, Katarzyna Hutnik, Stephen Leslie, Kristin Nicodemus, Ellen C Royrvik, Susan Tonks, Xiaofeng Yang, James Cheshire, Paul Longley, Pablo Mateos, Alexandra Groom, Caroline Relton, D Tim Bishop, Kathryn Black, Emma NorthwoodLouise Parkinson, Timothy M Frayling, Anna Steele, Julian R Sampson, Turi King, Ron Dixon, Derek Middleton, Barbara Jennings, Rory Bowden, Peter Donnelly, Walter Bodmer

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

60 Citations (Scopus)

Abstract

There is a great deal of interest in a fine-scale population structure in the UK, both as a signature of historical immigration events and because of the effect population structure may have on disease association studies. Although population structure appears to have a minor impact on the current generation of genome-wide association studies, it is likely to have a significant part in the next generation of studies designed to search for rare variants. A powerful way of detecting such structure is to control and document carefully the provenance of the samples involved. In this study, we describe the collection of a cohort of rural UK samples (The People of the British Isles), aimed at providing a well-characterised UK-control population that can be used as a resource by the research community, as well as providing a fine-scale genetic information on the British population. So far, some 4000 samples have been collected, the majority of which fit the criteria of coming from a rural area and having all four grandparents from approximately the same area. Analysis of the first 3865 samples that have been geocoded indicates that 75% have a mean distance between grandparental places of birth of 37.3 km, and that about 70% of grandparental places of birth can be classed as rural. Preliminary genotyping of 1057 samples demonstrates the value of these samples for investigating a fine-scale population structure within the UK, and shows how this can be enhanced by the use of surnames.

Original languageEnglish
Pages (from-to)203-10
Number of pages8
JournalEuropean Journal of Human Genetics
Volume20
Issue number2
DOIs
Publication statusPublished - Feb 2012

Keywords

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Female
  • Gene Frequency
  • Genetics, Population
  • Genotype
  • Great Britain
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Names
  • Population
  • Young Adult

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