Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 20, Issue 2, Pages 203-210Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2011.127
Keywords
people of the British Isles; population structure; control population; admixture; surnames
Funding
- Wellcome Trust
- NIHR Clinical Research Facility (University of Exeter)
- Wellcome Trust Clinical Research Facility (Manchester)
- Cancer Research UK [10589] Funding Source: researchfish
- Engineering and Physical Sciences Research Council [EP/J005266/1, EP/J004197/1] Funding Source: researchfish
- EPSRC [EP/J005266/1, EP/J004197/1] Funding Source: UKRI
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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. European Journal of Human Genetics (2012) 20, 203-210; doi:10.1038/ejhg.2011.127; published online 10 August 2011
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