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Human Molecular Genetics, 1999, Vol. 8, No. 9 1799-1805
© 1999 Oxford University Press

A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13

Reynir Arngrímsson1,, Sigrún Sigurardóttir2, Michael L. Frigge2, Ragnheiur I. Bjarnadóttir3, Thorlákur Jónsson2, Hreinn Stefánsson2, Ásdís Baldursdóttir1, Anna S. Einarsdóttir2, Birgir Palsson2, Steinunn Snorradóttir2, A. M. A. Lachmeijer1, Dan Nicolae2,5, Augustine Kong2,4, Birkir Thor Bragason2, Jeffrey R. Gulcher2, Reynir Tómas Geirsson3 and Kári Stefánsson2,+

1Medical Genetics Unit, Faculty of Medicine, University of Iceland, Medical School Building, Vatnsmrarvegur, 101 Reykjavík, Iceland, 2deCODE Genetics, Lyngháls 1, 110 Reykjavík, Iceland, 3Department of Obstetrics and Gynecology, National Univeristy Hospital, Hringbraut, 101 Reykjavík, Iceland and 4Department of Human Genetics and 5Department of Statistics, University of Chicago, Chicago, IL, USA

Pre-eclampsia is a common and serious disease and a major cause of maternal and infant mortality. Antenatal care systems world-wide screen for signs of the disease such as hypertension and proteinuria. Unlike most other human disorders it impacts two individuals, the mother and the child, both of whom can be severely affected. The pathophysiology of the disorder is incompletely understood, but familial clustering of the disease is apparent. Here we report the results of a genome-wide screen of Icelandic families representing 343 affected women. Including those patients with non-proteinuric pre-eclampsia (gestational hypertension), proteinuric pre-eclampsia and eclampsia, we detected a significant locus on 2p13 with a lod score of 4.70 (single point P < 3.49 x 10–6). This is the first reported locus for pre-eclampsia meeting the criteria for genome-wide significance.

+ To whom correspondence should be addressed. R.A.— Tel: +354 525 3600; Fax: +354 525 3608; Email: reynirar{at}hi.is K.S.—Tel: +354 570 1900; Fax: +354 570 1901; Email: kstefans@decode.is


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