Fine-Scale Genetic Structure in Finland

Author:

Kerminen Sini1,Havulinna Aki S12,Hellenthal Garrett3,Martin Alicia R456,Sarin Antti-Pekka12,Perola Markus127,Palotie Aarno14689,Salomaa Veikko2,Daly Mark J1456,Ripatti Samuli110,Pirinen Matti111

Affiliation:

1. Institute for Molecular Medicine Finland, University of Helsinki, 00014, Finland

2. National Institute for Health and Welfare, 00271 Helsinki, Finland

3. University College London Genetics Institute, University College London, WC1E 6BT, UK

4. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114

5. Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts 02142

6. Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts 02142

7. The Estonian Genome Center, University of Tartu, 51010, Estonia

8. Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114

9. Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114

10. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK

11. Helsinki Institute for Information Technology, University of Helsinki, 00014, Finland

Abstract

Abstract 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.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology

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