G3: Genes, Genomes, Genetics (Oct 2017)

Fine-Scale Genetic Structure in Finland

  • Sini Kerminen,
  • Aki S. Havulinna,
  • Garrett Hellenthal,
  • Alicia R. Martin,
  • Antti-Pekka Sarin,
  • Markus Perola,
  • Aarno Palotie,
  • Veikko Salomaa,
  • Mark J. Daly,
  • Samuli Ripatti,
  • Matti Pirinen

DOI
https://doi.org/10.1534/g3.117.300217
Journal volume & issue
Vol. 7, no. 10
pp. 3459 – 3468

Abstract

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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.

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