Correlation between genetic and geographic structure in Europe.
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.
Lao
Oscar
O
Department of Forensic Molecular Biology, Erasmus University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.
Lu
Timothy T
TT
Nothnagel
Michael
M
Junge
Olaf
O
Freitag-Wolf
Sandra
S
Caliebe
Amke
A
Balascakova
Miroslava
M
Bertranpetit
Jaume
J
Bindoff
Laurence A
LA
Comas
David
D
Holmlund
Gunilla
G
Kouvatsi
Anastasia
A
Macek
Milan
M
Mollet
Isabelle
I
Parson
Walther
W
Palo
Jukka
J
Ploski
Rafal
R
Sajantila
Antti
A
Tagliabracci
Adriano
A
Gether
Ulrik
U
Werge
Thomas
T
Rivadeneira
Fernando
F
Hofman
Albert
A
Uitterlinden
André G
AG
Gieger
Christian
C
Wichmann
Heinz-Erich
HE
Rüther
Andreas
A
Schreiber
Stefan
S
Becker
Christian
C
Nürnberg
Peter
P
Nelson
Matthew R
MR
Krawczak
Michael
M
Kayser
Manfred
M
D005060:Europe; D005828:Genetics, Population; D005838:Genotype; D005843:Geography; D006801:Humans; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics*