Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe.

Genome-wide data provide a powerful tool for inferring patterns of genetic variation and structure of human populations.In this study, we analysed almost 250,000 SNPs from a total of 945 samples from Eastern and Western Finland, Sweden, Northern Germany and Great Britain complemented with HapMap dat...

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Main Authors: Elina Salmela, Tuuli Lappalainen, Ingegerd Fransson, Peter M Andersen, Karin Dahlman-Wright, Andreas Fiebig, Pertti Sistonen, Marja-Liisa Savontaus, Stefan Schreiber, Juha Kere, Päivi Lahermo
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2008-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2567036?pdf=render
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author Elina Salmela
Tuuli Lappalainen
Ingegerd Fransson
Peter M Andersen
Karin Dahlman-Wright
Andreas Fiebig
Pertti Sistonen
Marja-Liisa Savontaus
Stefan Schreiber
Juha Kere
Päivi Lahermo
author_facet Elina Salmela
Tuuli Lappalainen
Ingegerd Fransson
Peter M Andersen
Karin Dahlman-Wright
Andreas Fiebig
Pertti Sistonen
Marja-Liisa Savontaus
Stefan Schreiber
Juha Kere
Päivi Lahermo
author_sort Elina Salmela
collection DOAJ
description Genome-wide data provide a powerful tool for inferring patterns of genetic variation and structure of human populations.In this study, we analysed almost 250,000 SNPs from a total of 945 samples from Eastern and Western Finland, Sweden, Northern Germany and Great Britain complemented with HapMap data. Small but statistically significant differences were observed between the European populations (F(ST) = 0.0040, p<10(-4)), also between Eastern and Western Finland (F(ST) = 0.0032, p<10(-3)). The latter indicated the existence of a relatively strong autosomal substructure within the country, similar to that observed earlier with smaller numbers of markers. The Germans and British were less differentiated than the Swedes, Western Finns and especially the Eastern Finns who also showed other signs of genetic drift. This is likely caused by the later founding of the northern populations, together with subsequent founder and bottleneck effects, and a smaller population size. Furthermore, our data suggest a small eastern contribution among the Finns, consistent with the historical and linguistic background of the population.Our results warn against a priori assumptions of homogeneity among Finns and other seemingly isolated populations. Thus, in association studies in such populations, additional caution for population structure may be necessary. Our results illustrate that population history is often important for patterns of genetic variation, and that the analysis of hundreds of thousands of SNPs provides high resolution also for population genetics.
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spelling doaj.art-3d61a3dd41114a7c9ca00a3dfc33a4e32022-12-21T18:29:58ZengPublic Library of Science (PLoS)PLoS ONE1932-62032008-01-01310e351910.1371/journal.pone.0003519Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe.Elina SalmelaTuuli LappalainenIngegerd FranssonPeter M AndersenKarin Dahlman-WrightAndreas FiebigPertti SistonenMarja-Liisa SavontausStefan SchreiberJuha KerePäivi LahermoGenome-wide data provide a powerful tool for inferring patterns of genetic variation and structure of human populations.In this study, we analysed almost 250,000 SNPs from a total of 945 samples from Eastern and Western Finland, Sweden, Northern Germany and Great Britain complemented with HapMap data. Small but statistically significant differences were observed between the European populations (F(ST) = 0.0040, p<10(-4)), also between Eastern and Western Finland (F(ST) = 0.0032, p<10(-3)). The latter indicated the existence of a relatively strong autosomal substructure within the country, similar to that observed earlier with smaller numbers of markers. The Germans and British were less differentiated than the Swedes, Western Finns and especially the Eastern Finns who also showed other signs of genetic drift. This is likely caused by the later founding of the northern populations, together with subsequent founder and bottleneck effects, and a smaller population size. Furthermore, our data suggest a small eastern contribution among the Finns, consistent with the historical and linguistic background of the population.Our results warn against a priori assumptions of homogeneity among Finns and other seemingly isolated populations. Thus, in association studies in such populations, additional caution for population structure may be necessary. Our results illustrate that population history is often important for patterns of genetic variation, and that the analysis of hundreds of thousands of SNPs provides high resolution also for population genetics.http://europepmc.org/articles/PMC2567036?pdf=render
spellingShingle Elina Salmela
Tuuli Lappalainen
Ingegerd Fransson
Peter M Andersen
Karin Dahlman-Wright
Andreas Fiebig
Pertti Sistonen
Marja-Liisa Savontaus
Stefan Schreiber
Juha Kere
Päivi Lahermo
Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe.
PLoS ONE
title Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe.
title_full Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe.
title_fullStr Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe.
title_full_unstemmed Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe.
title_short Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe.
title_sort genome wide analysis of single nucleotide polymorphisms uncovers population structure in northern europe
url http://europepmc.org/articles/PMC2567036?pdf=render
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