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Changes in the fine-scale genetic structure of Finland through the 20(th) century

Information about individual-level genetic ancestry is central to population genetics, forensics and genomic medicine. So far, studies have typically considered genetic ancestry on a broad continental level, and there is much less understanding of how more detailed genetic ancestry profiles can be g...

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Autores principales: Kerminen, Sini, Cerioli, Nicola, Pacauskas, Darius, Havulinna, Aki S., Perola, Markus, Jousilahti, Pekka, Salomaa, Veikko, Daly, Mark J., Vyas, Rupesh, Ripatti, Samuli, Pirinen, Matti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932171/
https://www.ncbi.nlm.nih.gov/pubmed/33661898
http://dx.doi.org/10.1371/journal.pgen.1009347
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author Kerminen, Sini
Cerioli, Nicola
Pacauskas, Darius
Havulinna, Aki S.
Perola, Markus
Jousilahti, Pekka
Salomaa, Veikko
Daly, Mark J.
Vyas, Rupesh
Ripatti, Samuli
Pirinen, Matti
author_facet Kerminen, Sini
Cerioli, Nicola
Pacauskas, Darius
Havulinna, Aki S.
Perola, Markus
Jousilahti, Pekka
Salomaa, Veikko
Daly, Mark J.
Vyas, Rupesh
Ripatti, Samuli
Pirinen, Matti
author_sort Kerminen, Sini
collection PubMed
description Information about individual-level genetic ancestry is central to population genetics, forensics and genomic medicine. So far, studies have typically considered genetic ancestry on a broad continental level, and there is much less understanding of how more detailed genetic ancestry profiles can be generated and how accurate and reliable they are. Here, we assess these questions by developing a framework for individual-level ancestry estimation within a single European country, Finland, and we apply the framework to track changes in the fine-scale genetic structure throughout the 20(th) century. We estimate the genetic ancestry for 18,463 individuals from the National FINRISK Study with respect to up to 10 genetically and geographically motivated Finnish reference groups and illustrate the annual changes in the fine-scale genetic structure over the decades from 1920s to 1980s for 12 geographic regions of Finland. We detected major changes after a sudden, internal migration related to World War II from the region of ceded Karelia to the other parts of the country as well as the effect of urbanization starting from the 1950s. We also show that while the level of genetic heterogeneity in general increases towards the present day, its rate of change has considerable differences between the regions. To our knowledge, this is the first study that estimates annual changes in the fine-scale ancestry profiles within a relatively homogeneous European country and demonstrates how such information captures a detailed spatial and temporal history of a population. We provide an interactive website for the general public to examine our results.
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spelling pubmed-79321712021-03-15 Changes in the fine-scale genetic structure of Finland through the 20(th) century Kerminen, Sini Cerioli, Nicola Pacauskas, Darius Havulinna, Aki S. Perola, Markus Jousilahti, Pekka Salomaa, Veikko Daly, Mark J. Vyas, Rupesh Ripatti, Samuli Pirinen, Matti PLoS Genet Research Article Information about individual-level genetic ancestry is central to population genetics, forensics and genomic medicine. So far, studies have typically considered genetic ancestry on a broad continental level, and there is much less understanding of how more detailed genetic ancestry profiles can be generated and how accurate and reliable they are. Here, we assess these questions by developing a framework for individual-level ancestry estimation within a single European country, Finland, and we apply the framework to track changes in the fine-scale genetic structure throughout the 20(th) century. We estimate the genetic ancestry for 18,463 individuals from the National FINRISK Study with respect to up to 10 genetically and geographically motivated Finnish reference groups and illustrate the annual changes in the fine-scale genetic structure over the decades from 1920s to 1980s for 12 geographic regions of Finland. We detected major changes after a sudden, internal migration related to World War II from the region of ceded Karelia to the other parts of the country as well as the effect of urbanization starting from the 1950s. We also show that while the level of genetic heterogeneity in general increases towards the present day, its rate of change has considerable differences between the regions. To our knowledge, this is the first study that estimates annual changes in the fine-scale ancestry profiles within a relatively homogeneous European country and demonstrates how such information captures a detailed spatial and temporal history of a population. We provide an interactive website for the general public to examine our results. Public Library of Science 2021-03-04 /pmc/articles/PMC7932171/ /pubmed/33661898 http://dx.doi.org/10.1371/journal.pgen.1009347 Text en © 2021 Kerminen et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Kerminen, Sini
Cerioli, Nicola
Pacauskas, Darius
Havulinna, Aki S.
Perola, Markus
Jousilahti, Pekka
Salomaa, Veikko
Daly, Mark J.
Vyas, Rupesh
Ripatti, Samuli
Pirinen, Matti
Changes in the fine-scale genetic structure of Finland through the 20(th) century
title Changes in the fine-scale genetic structure of Finland through the 20(th) century
title_full Changes in the fine-scale genetic structure of Finland through the 20(th) century
title_fullStr Changes in the fine-scale genetic structure of Finland through the 20(th) century
title_full_unstemmed Changes in the fine-scale genetic structure of Finland through the 20(th) century
title_short Changes in the fine-scale genetic structure of Finland through the 20(th) century
title_sort changes in the fine-scale genetic structure of finland through the 20(th) century
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932171/
https://www.ncbi.nlm.nih.gov/pubmed/33661898
http://dx.doi.org/10.1371/journal.pgen.1009347
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