People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population.
People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population.
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DOI：
10.1038/ejhg.2011.127
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发表时间：
2012-02
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影响因子：
--
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中科院分区：
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有一个很大的兴趣在英国的一个精细规模的人口结构，既作为历史移民事件的签名，因为人口结构的影响可能对疾病相关性研究。虽然人口结构似乎对当前一代的全基因组关联研究的影响很小，但它很可能在下一代旨在寻找罕见变异的研究中发挥重要作用。检测这种结构的一种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，我们描述了一个队列的农村英国样本（不列颠群岛的人）的收集，旨在提供一个良好的特点，英国控制人口，可作为研究界的资源，以及提供一个精细的规模遗传信息的英国人口。到目前为止，已经收集了大约4000个样本，其中大多数符合来自农村地区的标准，并且所有四个祖父母都来自大约同一地区。对最初的3865个地理编码样本的分析表明，75%的祖父母出生地之间的平均距离为37.3公里，大约70%的祖父母出生地可以归类为农村。对1057个样本进行的初步基因分型证明了这些样本对于调查英国细规模人口结构的价值，并展示了如何通过使用姓氏来增强这一点。
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.
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