Correlation between genetic and geographic structure in Europe

Oscar Lao; Timothy T Lu; Michael Nothnagel; Olaf Junge; Sandra Freitag-Wolf; Amke Caliebe; Miroslava Balascakova; Jaume Bertranpetit; Laurence A Bindoff; David Comas; Gunilla Holmlund; Anastasia Kouvatsi; Milan Macek; Isabelle Mollet; Walther Parson; Jukka Palo; Rafal Ploski; Antti Sajantila; Adriano Tagliabracci; Ulrik Gether; Thomas Werge; Fernando Rivadeneira; Albert Hofman; André G Uitterlinden; Christian Gieger; Heinz-Erich Wichmann; Andreas Rüther; Stefan Schreiber; Christian Becker; Peter Nürnberg; Matthew R Nelson; Michael Krawczak; Manfred Kayser

doi:10.1016/j.cub.2008.07.049

Correlation between genetic and geographic structure in Europe

Oscar Lao, Timothy T Lu, Michael Nothnagel, Olaf Junge, Sandra Freitag-Wolf, Amke Caliebe, Miroslava Balascakova, Jaume Bertranpetit, Laurence A Bindoff, David Comas, Gunilla Holmlund, Anastasia Kouvatsi, Milan Macek, Isabelle Mollet, Walther Parson, Jukka Palo, Rafal Ploski, Antti Sajantila, Adriano Tagliabracci, Ulrik GetherThomas Werge, Fernando Rivadeneira, Albert Hofman, André G Uitterlinden, Christian Gieger, Heinz-Erich Wichmann, Andreas Rüther, Stefan Schreiber, Christian Becker, Peter Nürnberg, Matthew R Nelson, Michael Krawczak, Manfred Kayser

Department of Neuroscience

335 Citations (Scopus)

Abstract

Understanding the genetic structure of the European population is important, not only from a historical perspective, but also for the appropriate design and interpretation of genetic epidemiological studies. Previous population genetic analyses with autosomal markers in Europe either had a wide geographic but narrow genomic coverage [1, 2], or vice versa [3-6]. We therefore investigated Affymetrix GeneChip 500K genotype data from 2,514 individuals belonging to 23 different subpopulations, widely spread over Europe. Although we found only a low level of genetic differentiation between subpopulations, the existing differences were characterized by a strong continent-wide correlation between geographic and genetic distance. Furthermore, mean heterozygosity was larger, and mean linkage disequilibrium smaller, in southern as compared to northern Europe. Both parameters clearly showed a clinal distribution that provided evidence for a spatial continuity of genetic diversity in Europe. Our comprehensive genetic data are thus compatible with expectations based upon European population history, including the hypotheses of a south-north expansion and/or a larger effective population size in southern than in northern Europe. By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry.

Original language	English
Journal	Current Biology
Volume	18
Issue number	16
Pages (from-to)	1241-8
Number of pages	7
ISSN	0960-9822
DOIs	https://doi.org/10.1016/j.cub.2008.07.049
Publication status	Published - 2008

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Lao, O., Lu, T. T., Nothnagel, M., Junge, O., Freitag-Wolf, S., Caliebe, A., Balascakova, M., Bertranpetit, J., Bindoff, L. A., Comas, D., Holmlund, G., Kouvatsi, A., Macek, M., Mollet, I., Parson, W., Palo, J., Ploski, R., Sajantila, A., Tagliabracci, A., ... Kayser, M. (2008). Correlation between genetic and geographic structure in Europe. Current Biology, 18(16), 1241-8. https://doi.org/10.1016/j.cub.2008.07.049

Lao, O, Lu, TT, Nothnagel, M, Junge, O, Freitag-Wolf, S, Caliebe, A, Balascakova, M, Bertranpetit, J, Bindoff, LA, Comas, D, Holmlund, G, Kouvatsi, A, Macek, M, Mollet, I, Parson, W, Palo, J, Ploski, R, Sajantila, A, Tagliabracci, A, Gether, U , Werge, T, Rivadeneira, F, Hofman, A, Uitterlinden, AG, Gieger, C, Wichmann, H-E, Rüther, A, Schreiber, S, Becker, C, Nürnberg, P, Nelson, MR, Krawczak, M & Kayser, M 2008, 'Correlation between genetic and geographic structure in Europe', Current Biology, vol. 18, no. 16, pp. 1241-8. https://doi.org/10.1016/j.cub.2008.07.049

@article{bcca9390b50911df825b000ea68e967b,

title = "Correlation between genetic and geographic structure in Europe",

abstract = "Understanding the genetic structure of the European population is important, not only from a historical perspective, but also for the appropriate design and interpretation of genetic epidemiological studies. Previous population genetic analyses with autosomal markers in Europe either had a wide geographic but narrow genomic coverage [1, 2], or vice versa [3-6]. We therefore investigated Affymetrix GeneChip 500K genotype data from 2,514 individuals belonging to 23 different subpopulations, widely spread over Europe. Although we found only a low level of genetic differentiation between subpopulations, the existing differences were characterized by a strong continent-wide correlation between geographic and genetic distance. Furthermore, mean heterozygosity was larger, and mean linkage disequilibrium smaller, in southern as compared to northern Europe. Both parameters clearly showed a clinal distribution that provided evidence for a spatial continuity of genetic diversity in Europe. Our comprehensive genetic data are thus compatible with expectations based upon European population history, including the hypotheses of a south-north expansion and/or a larger effective population size in southern than in northern Europe. By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry.",

author = "Oscar Lao and Lu, {Timothy T} and Michael Nothnagel and Olaf Junge and Sandra Freitag-Wolf and Amke Caliebe and Miroslava Balascakova and Jaume Bertranpetit and Bindoff, {Laurence A} and David Comas and Gunilla Holmlund and Anastasia Kouvatsi and Milan Macek and Isabelle Mollet and Walther Parson and Jukka Palo and Rafal Ploski and Antti Sajantila and Adriano Tagliabracci and Ulrik Gether and Thomas Werge and Fernando Rivadeneira and Albert Hofman and Uitterlinden, {Andr{\'e} G} and Christian Gieger and Heinz-Erich Wichmann and Andreas R{\"u}ther and Stefan Schreiber and Christian Becker and Peter N{\"u}rnberg and Nelson, {Matthew R} and Michael Krawczak and Manfred Kayser",

note = "Keywords: Europe; European Continental Ancestry Group; Genetics, Population; Genotype; Geography; Humans; Linkage Disequilibrium; Polymorphism, Single Nucleotide",

year = "2008",

doi = "10.1016/j.cub.2008.07.049",

language = "English",

volume = "18",

pages = "1241--8",

journal = "Current Biology",

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T1 - Correlation between genetic and geographic structure in Europe

AU - Lao, Oscar

AU - Lu, Timothy T

AU - Nothnagel, Michael

AU - Junge, Olaf

AU - Freitag-Wolf, Sandra

AU - Caliebe, Amke

AU - Balascakova, Miroslava

AU - Bertranpetit, Jaume

AU - Bindoff, Laurence A

AU - Comas, David

AU - Holmlund, Gunilla

AU - Kouvatsi, Anastasia

AU - Macek, Milan

AU - Mollet, Isabelle

AU - Parson, Walther

AU - Palo, Jukka

AU - Ploski, Rafal

AU - Sajantila, Antti

AU - Tagliabracci, Adriano

AU - Gether, Ulrik

AU - Werge, Thomas

AU - Rivadeneira, Fernando

AU - Hofman, Albert

AU - Uitterlinden, André G

AU - Gieger, Christian

AU - Wichmann, Heinz-Erich

AU - Rüther, Andreas

AU - Schreiber, Stefan

AU - Becker, Christian

AU - Nürnberg, Peter

AU - Nelson, Matthew R

AU - Krawczak, Michael

AU - Kayser, Manfred

N1 - Keywords: Europe; European Continental Ancestry Group; Genetics, Population; Genotype; Geography; Humans; Linkage Disequilibrium; Polymorphism, Single Nucleotide

PY - 2008

Y1 - 2008

N2 - Understanding the genetic structure of the European population is important, not only from a historical perspective, but also for the appropriate design and interpretation of genetic epidemiological studies. Previous population genetic analyses with autosomal markers in Europe either had a wide geographic but narrow genomic coverage [1, 2], or vice versa [3-6]. We therefore investigated Affymetrix GeneChip 500K genotype data from 2,514 individuals belonging to 23 different subpopulations, widely spread over Europe. Although we found only a low level of genetic differentiation between subpopulations, the existing differences were characterized by a strong continent-wide correlation between geographic and genetic distance. Furthermore, mean heterozygosity was larger, and mean linkage disequilibrium smaller, in southern as compared to northern Europe. Both parameters clearly showed a clinal distribution that provided evidence for a spatial continuity of genetic diversity in Europe. Our comprehensive genetic data are thus compatible with expectations based upon European population history, including the hypotheses of a south-north expansion and/or a larger effective population size in southern than in northern Europe. By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry.

AB - Understanding the genetic structure of the European population is important, not only from a historical perspective, but also for the appropriate design and interpretation of genetic epidemiological studies. Previous population genetic analyses with autosomal markers in Europe either had a wide geographic but narrow genomic coverage [1, 2], or vice versa [3-6]. We therefore investigated Affymetrix GeneChip 500K genotype data from 2,514 individuals belonging to 23 different subpopulations, widely spread over Europe. Although we found only a low level of genetic differentiation between subpopulations, the existing differences were characterized by a strong continent-wide correlation between geographic and genetic distance. Furthermore, mean heterozygosity was larger, and mean linkage disequilibrium smaller, in southern as compared to northern Europe. Both parameters clearly showed a clinal distribution that provided evidence for a spatial continuity of genetic diversity in Europe. Our comprehensive genetic data are thus compatible with expectations based upon European population history, including the hypotheses of a south-north expansion and/or a larger effective population size in southern than in northern Europe. By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry.

U2 - 10.1016/j.cub.2008.07.049

DO - 10.1016/j.cub.2008.07.049

M3 - Journal article

C2 - 18691889

SN - 0960-9822

VL - 18

SP - 1241

EP - 1248

JO - Current Biology

JF - Current Biology

IS - 16

ER -

Correlation between genetic and geographic structure in Europe

Abstract

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