A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Genome-Wide Analysis of Single Nucleotide Polymorphisms Uncovers Population Structure in Northern Europe
Tekijät: Salmela, Elina; Lappalainen, Tuuli; Fransson, Ingegerd; Andersen, Peter M.; Dahlman-Wright, Karin; Fiebig, Andreas; Sistonen, Pertti; Savontaus, Marja-Liisa; Schreiber, Stefan; Kere, Juha; Lahermo, Paivi
Kustantaja: PUBLIC LIBRARY SCIENCE
Kustannuspaikka: SAN FRANCISCO
Julkaisuvuosi: 2008
Lehti:PLoS ONE
Tietokannassa oleva lehden nimiPLOS ONE
Lehden akronyymi: PLOS ONE
Artikkelin numero: e3519
Vuosikerta: 3
Numero: 10
Sivujen määrä: 9
ISSN: 1932-6203
DOI: https://doi.org/10.1371/journal.pone.0003519
Tiivistelmä
Background: Genome-wide data provide a powerful tool for inferring patterns of genetic variation and structure of human populations.Principal Findings: 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.Significance: 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.
Background: Genome-wide data provide a powerful tool for inferring patterns of genetic variation and structure of human populations.Principal Findings: 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.Significance: 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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