Genetic structure of Europeans: a view from the North-East.

Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs) genotyped with the Illumina Infinium platform. In cohorts where the sample size was >100, one hundred randomly cho...

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Autores principales: Mari Nelis, Tõnu Esko, Reedik Mägi, Fritz Zimprich, Alexander Zimprich, Draga Toncheva, Sena Karachanak, Tereza Piskácková, Ivan Balascák, Leena Peltonen, Eveliina Jakkula, Karola Rehnström, Mark Lathrop, Simon Heath, Pilar Galan, Stefan Schreiber, Thomas Meitinger, Arne Pfeufer, H-Erich Wichmann, Béla Melegh, Noémi Polgár, Daniela Toniolo, Paolo Gasparini, Pio D'Adamo, Janis Klovins, Liene Nikitina-Zake, Vaidutis Kucinskas, Jūrate Kasnauskiene, Jan Lubinski, Tadeusz Debniak, Svetlana Limborska, Andrey Khrunin, Xavier Estivill, Raquel Rabionet, Sara Marsal, Antonio Julià, Stylianos E Antonarakis, Samuel Deutsch, Christelle Borel, Homa Attar, Maryline Gagnebin, Milan Macek, Michael Krawczak, Maido Remm, Andres Metspalu
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Publicado: Public Library of Science (PLoS) 2009
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spelling oai:doaj.org-article:1f5659cb91774c71bd360687d8e166642021-11-25T06:22:47ZGenetic structure of Europeans: a view from the North-East.1932-620310.1371/journal.pone.0005472https://doaj.org/article/1f5659cb91774c71bd360687d8e166642009-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19424496/?tool=EBIhttps://doaj.org/toc/1932-6203Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs) genotyped with the Illumina Infinium platform. In cohorts where the sample size was >100, one hundred randomly chosen samples were used for analysis to minimize the sample size effect, resulting in a total of 1,564 samples. This analysis revealed that the genetic structure of the European population correlates closely with geography. The first two PCs highlight the genetic diversity corresponding to the northwest to southeast gradient and position the populations according to their approximate geographic origin. The resulting genetic map forms a triangular structure with a) Finland, b) the Baltic region, Poland and Western Russia, and c) Italy as its vertexes, and with d) Central- and Western Europe in its centre. Inter- and intra- population genetic differences were quantified by the inflation factor lambda (lambda) (ranging from 1.00 to 4.21), fixation index (F(st)) (ranging from 0.000 to 0.023), and by the number of markers exhibiting significant allele frequency differences in pair-wise population comparisons. The estimated lambda was used to assess the real diminishing impact to association statistics when two distinct populations are merged directly in an analysis. When the PC analysis was confined to the 1,019 Estonian individuals (0.1% of the Estonian population), a fine structure emerged that correlated with the geography of individual counties. With at least two cohorts available from several countries, genetic substructures were investigated in Czech, Finnish, German, Estonian and Italian populations. Together with previously published data, our results allow the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS).Mari NelisTõnu EskoReedik MägiFritz ZimprichAlexander ZimprichDraga TonchevaSena KarachanakTereza PiskáckováIvan BalascákLeena PeltonenEveliina JakkulaKarola RehnströmMark LathropSimon HeathPilar GalanStefan SchreiberThomas MeitingerArne PfeuferH-Erich WichmannBéla MeleghNoémi PolgárDaniela TonioloPaolo GaspariniPio D'AdamoJanis KlovinsLiene Nikitina-ZakeVaidutis KucinskasJūrate KasnauskieneJan LubinskiTadeusz DebniakSvetlana LimborskaAndrey KhruninXavier EstivillRaquel RabionetSara MarsalAntonio JuliàStylianos E AntonarakisSamuel DeutschChristelle BorelHoma AttarMaryline GagnebinMilan MacekMichael KrawczakMaido RemmAndres MetspaluPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 4, Iss 5, p e5472 (2009)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Mari Nelis
Tõnu Esko
Reedik Mägi
Fritz Zimprich
Alexander Zimprich
Draga Toncheva
Sena Karachanak
Tereza Piskácková
Ivan Balascák
Leena Peltonen
Eveliina Jakkula
Karola Rehnström
Mark Lathrop
Simon Heath
Pilar Galan
Stefan Schreiber
Thomas Meitinger
Arne Pfeufer
H-Erich Wichmann
Béla Melegh
Noémi Polgár
Daniela Toniolo
Paolo Gasparini
Pio D'Adamo
Janis Klovins
Liene Nikitina-Zake
Vaidutis Kucinskas
Jūrate Kasnauskiene
Jan Lubinski
Tadeusz Debniak
Svetlana Limborska
Andrey Khrunin
Xavier Estivill
Raquel Rabionet
Sara Marsal
Antonio Julià
Stylianos E Antonarakis
Samuel Deutsch
Christelle Borel
Homa Attar
Maryline Gagnebin
Milan Macek
Michael Krawczak
Maido Remm
Andres Metspalu
Genetic structure of Europeans: a view from the North-East.
description Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs) genotyped with the Illumina Infinium platform. In cohorts where the sample size was >100, one hundred randomly chosen samples were used for analysis to minimize the sample size effect, resulting in a total of 1,564 samples. This analysis revealed that the genetic structure of the European population correlates closely with geography. The first two PCs highlight the genetic diversity corresponding to the northwest to southeast gradient and position the populations according to their approximate geographic origin. The resulting genetic map forms a triangular structure with a) Finland, b) the Baltic region, Poland and Western Russia, and c) Italy as its vertexes, and with d) Central- and Western Europe in its centre. Inter- and intra- population genetic differences were quantified by the inflation factor lambda (lambda) (ranging from 1.00 to 4.21), fixation index (F(st)) (ranging from 0.000 to 0.023), and by the number of markers exhibiting significant allele frequency differences in pair-wise population comparisons. The estimated lambda was used to assess the real diminishing impact to association statistics when two distinct populations are merged directly in an analysis. When the PC analysis was confined to the 1,019 Estonian individuals (0.1% of the Estonian population), a fine structure emerged that correlated with the geography of individual counties. With at least two cohorts available from several countries, genetic substructures were investigated in Czech, Finnish, German, Estonian and Italian populations. Together with previously published data, our results allow the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS).
format article
author Mari Nelis
Tõnu Esko
Reedik Mägi
Fritz Zimprich
Alexander Zimprich
Draga Toncheva
Sena Karachanak
Tereza Piskácková
Ivan Balascák
Leena Peltonen
Eveliina Jakkula
Karola Rehnström
Mark Lathrop
Simon Heath
Pilar Galan
Stefan Schreiber
Thomas Meitinger
Arne Pfeufer
H-Erich Wichmann
Béla Melegh
Noémi Polgár
Daniela Toniolo
Paolo Gasparini
Pio D'Adamo
Janis Klovins
Liene Nikitina-Zake
Vaidutis Kucinskas
Jūrate Kasnauskiene
Jan Lubinski
Tadeusz Debniak
Svetlana Limborska
Andrey Khrunin
Xavier Estivill
Raquel Rabionet
Sara Marsal
Antonio Julià
Stylianos E Antonarakis
Samuel Deutsch
Christelle Borel
Homa Attar
Maryline Gagnebin
Milan Macek
Michael Krawczak
Maido Remm
Andres Metspalu
author_facet Mari Nelis
Tõnu Esko
Reedik Mägi
Fritz Zimprich
Alexander Zimprich
Draga Toncheva
Sena Karachanak
Tereza Piskácková
Ivan Balascák
Leena Peltonen
Eveliina Jakkula
Karola Rehnström
Mark Lathrop
Simon Heath
Pilar Galan
Stefan Schreiber
Thomas Meitinger
Arne Pfeufer
H-Erich Wichmann
Béla Melegh
Noémi Polgár
Daniela Toniolo
Paolo Gasparini
Pio D'Adamo
Janis Klovins
Liene Nikitina-Zake
Vaidutis Kucinskas
Jūrate Kasnauskiene
Jan Lubinski
Tadeusz Debniak
Svetlana Limborska
Andrey Khrunin
Xavier Estivill
Raquel Rabionet
Sara Marsal
Antonio Julià
Stylianos E Antonarakis
Samuel Deutsch
Christelle Borel
Homa Attar
Maryline Gagnebin
Milan Macek
Michael Krawczak
Maido Remm
Andres Metspalu
author_sort Mari Nelis
title Genetic structure of Europeans: a view from the North-East.
title_short Genetic structure of Europeans: a view from the North-East.
title_full Genetic structure of Europeans: a view from the North-East.
title_fullStr Genetic structure of Europeans: a view from the North-East.
title_full_unstemmed Genetic structure of Europeans: a view from the North-East.
title_sort genetic structure of europeans: a view from the north-east.
publisher Public Library of Science (PLoS)
publishDate 2009
url https://doaj.org/article/1f5659cb91774c71bd360687d8e16664
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