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 language | English |
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Pages (from-to) | 203-10 |
Number of pages | 8 |
Journal | European Journal of Human Genetics |
Volume | 20 |
Issue number | 2 |
DOIs | |
Publication status | Published - 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