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

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 g...

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Bibliographic Details
Main Authors: Winney, B, Boumertit, A, Day, T, Davison, D, Echeta, C, Evseeva, I, Hutnik, K, Leslie, S, Nicodemus, K, Royrvik, E, Tonks, S, Yang, X, Cheshire, J, Longley, P, Mateos, P, Groom, A, Relton, C, Bishop, D, Black, K, Northwood, E, Parkinson, L, Frayling, T, Steele, A, Sampson, JR, King, T
Format: Journal article
Language:English
Published: 2012
Description
Summary: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. © 2012 Macmillan Publishers Limited All rights reserved.