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

机译:不列颠群岛人民:对英国控制人口的基因型和姓氏的初步分析。

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摘要

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.
机译:作为历史移民事件的标志以及由于人口结构可能对疾病关联研究的影响,英国对精细的人口结构引起了极大的兴趣。尽管种群结构似乎对当前一代的全基因组关联研究影响不大,但在下一代旨在寻找稀有变异体的研究中,它可能会发挥重要作用。检测这种结构的有效方法是仔细控制和记录所涉及样品的来源。在这项研究中,我们描述了一组英国农村样本(不列颠群岛的人民)的收集,目的是提供特征明确的英国控制人口,这些人口可以被研究社区用作资源,以及提供有关英国人口的精细遗传信息。到目前为止,已经收集了大约4000个样本,其中大多数符合从农村地区来的标准,并且所有四个祖父母都来自大约同一地区。对经过地理编码的前3865个样本的分析表明,有75%的祖父母出生地之间的平均距离为37.3 km,并且大约70%的祖父母出生地可以归为农村。初步的1057个样本的基因分型证明了这些样本在调查英国范围内精细规模的人口结构中的价值,并显示了如何通过使用姓氏可以增强这种价值。

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