Fine-Scale Genetic Structure in Finland.
Fine-Scale Genetic Structure in Finland.
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DOI：
10.1534/g3.117.300217
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发表时间：
2017-10-05
期刊：
影响因子：
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通讯作者：
Pirinen M
中科院分区：
文献类型：
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作者：
Kerminen S;Havulinna AS;Hellenthal G;Martin AR;Sarin AP;Perola M;Palotie A;Salomaa V;Daly MJ;Ripatti S;Pirinen M
一旦地理上精确定义的参考数据集可用，将密集的基因型数据与新的计算方法相结合，为个人水平的祖先估计提供了前所未有的机会。我们研究这样一个参考数据集，芬兰包含2376个这样的人从FINRISK研究调查1997年双方的父母出生时彼此接近。这一抽样战略的重点是1950年代以前芬兰的人口结构。通过使用最近基于单倍型的方法ChromoPainter（CP）和FineSTRUCTURE（FS），我们揭示了芬兰高度地理聚集的遗传结构，并报告了其与定居历史以及芬兰语当前方言区域的联系。芬兰境内的主要遗传划分与1323年《诺特堡条约》的边界线惊人地一致。在一般情况下，我们检测到全国各地的遗传子结构，这反映了更强的区域遗传差异在芬兰相比，例如，英国，在类似的分析是由一个单一的非结构化人口占主导地位。我们预计，在不久的将来，类似的群体遗传参考数据集将可用于更多的群体，并具有重要的应用，例如，在法医遗传学和遗传关联研究中。考虑到这一点，我们报告这些扩展的CP + FS的方法，我们发现最有用的，在我们的分析芬兰的数据。
Coupling dense genotype data with new computational methods offers unprecedented opportunities for individual-level ancestry estimation once geographically precisely defined reference data sets become available. We study such a reference data set for Finland containing 2376 such individuals from the FINRISK Study survey of 1997 both of whose parents were born close to each other. This sampling strategy focuses on the population structure present in Finland before the 1950s. By using the recent haplotype-based methods ChromoPainter (CP) and FineSTRUCTURE (FS) we reveal a highly geographically clustered genetic structure in Finland and report its connections to the settlement history as well as to the current dialectal regions of the Finnish language. The main genetic division within Finland shows striking concordance with the 1323 borderline of the treaty of Nöteborg. In general, we detect genetic substructure throughout the country, which reflects stronger regional genetic differences in Finland compared to, for example, the UK, which in a similar analysis was dominated by a single unstructured population. We expect that similar population genetic reference data sets will become available for many more populations in the near future with important applications, for example, in forensic genetics and in genetic association studies. With this in mind, we report those extensions of the CP + FS approach that we found most useful in our analyses of the Finnish data.