A common inversion under selection in Europeans

Hreinn Stefansson, Agnar Helgason, Gudmar Thorleifsson, Valgerdur Steinthorsdottir, Gisli Masson, John Barnard, Adam Baker, Aslaug Jonasdottir, Andres Ingason, Vala G. Gudnadottir, Natasa Desnica, Andrew Hicks, Arnaldur Gylfason, Daniel F. Gudbjartsson, Gudrun M. Jonsdottir, Jesus Sainz, Kari Agnarsson, Birgitta Birgisdottir, Shyamali Ghosh, Adalheidur OlafsdottirJean Baptiste Cazier, Kristleifur Kristjansson, Michael L. Frigge, Thorgeir E. Thorgeirsson, Jeffrey R. Gulcher, Augustine Kong*, Kari Stefansson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

580 Citations (Scopus)


A refined physical map of chromosome 17q21.31 uncovered a 900-kb inversion polymorphism. Chromosomes with the inverted segment in different orientations represent two distinct lineages, H1 and H2, that have diverged for as much as 3 million years and show no evidence of having recombined. The H2 lineage is rare in Africans, almost absent in East Asians but found at a frequency of 20% in Europeans, in whom the haplotype structure is indicative of a history of positive selection. Here we show that the H2 lineage is undergoing positive selection in the Icelandic population, such that carrier females have more children and have higher recombination rates than noncarriers.

Original languageEnglish
Pages (from-to)129-137
Number of pages9
JournalNature Genetics
Issue number2
Publication statusPublished - Feb 2005


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