News Release

New study rebuts claims about Icelandic genetic heterogeneity

Peer-Reviewed Publication

Blackwell Publishing Ltd.

There has been some controversy in the media and within the scientific research community concerning whether Icelanders are genetically homogenous or heterogeneous relative to other European populations.

Following an article published in Annals of Human Genetics in January 2003 by E. Árnason, who concluded that Icelanders were one of the most heterogeneous populations in Europe, researchers from deCODE Genetics and the University of Oxford, have published an article in Annals of Human Genetics (issue 67:4, July 2003) corroborating findings from earlier studies that Iceland is indeed home to one of the most homogenous gene pools in Europe.

This latest research article, 'A Reassessment of Genetic Diversity in Icelanders: Strong Evidence from Multiple Loci for Relative Homogeneity Caused by Genetic Drift' by A. Helgason, G. Nicholson, K. Stefánsson and P. Donnelly, both greatly expands sample sizes from individual populations and the number of genetic loci analysed, and uses population genetics simulations to demonstrate that genetic drift, not admixture (as claimed by E. Árnason), has been the overriding factor influencing patterns of genetic variation in Iceland. Moreover, these simulations also reveal that the summary statistics (gene diversity and mean pairwise mutational differences) used by E. Árnason, to argue for the relative genetic heterogeneity of Icelanders in his analysis of mitochondrial DNA (mtDNA) sequences, are poor comparative measures of genetic diversity in closely related populations such as those of Iceland and other European countries.

Agnar Helgason, corresponding author on the new study, says: "A consideration of… 83 unlinked nuclear SNPs, 14 serogenetic loci, Y-chromosome haplotypes constructed from five microsatellites and mtDNA HVS1 and HVS2 control region sequences, provides a clear and consistent picture of Icelanders being amongst the more genetically homogeneous populations in Europe, characterised by small effective population size and relative isolation".

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For further information about this research, please contact the corresponding author of the original article on which this press release is based:

Agnar Helgason
deCODE Genetics
Sturlugata 8
101 Reyjavik
Iceland
Fax: 354-5701903
E-mail: agnarh@hi.is

To gain access to the full article on which the information in this press release is based, please visit the journal website http://www.blackwellpublishing.com/ahg/pr and click on the link under 'Highlights' where you will also find links to the related 'Árnason article' and accompanying 'Commentary' published in the January issue of Annals of Human Genetics. If you are unable to obtain access to the full article, please e-mail Melanie Thomson at Blackwell Publishing Melanie.Thomson@oxon.blackwellpublishing.com

To cite this article:
Helgason, A., Nicholson, G., Stefánsson, K. & Donnelly, P. (2003)
A Reassessment of Genetic Diversity in Icelanders: Strong Evidence from Multiple Loci for Relative Homogeneity Caused by Genetic Drift. Annals of Human Genetics 67 (4), 281-297.
doi: 10.1046/j.1469-1809.2003.00046.x


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