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

• Published in: Human Molecular Genetics
• Main Authors: Arngrimsson, R, Sigurardottir, S, Frigge, M L, Bjarnad ttir, R I, Jonsson, T, Stefansson, H, Baldursdottir, A, Einarsdottir, A S, Palsson, B, Snorradottir, S, Lachmeijer, A M, Nicolae, D, Kong, A, Bragason, B T, Gulcher, J R, Geirsson, R T, Stefansson, K
• Other Authors: Medical Genetics Unit, Faculty of Medicine, University of Iceland, Medical School Building, Vatnsmrarvegur, 101 Reykjavík, Iceland.
• Format: Article in Journal/Newspaper
• Language: English
• Published: IRL Press at Oxford University Press 2009
• Subjects: Chromosome Mapping; Chromosomes; Human; Pair 2; Female; Genetic Markers; Genetic Predisposition to Disease; Genome; Genotype; Haplotypes; Humans; Iceland; Linkage (Genetics); Lod Score; Pedigree; Pre-Eclampsia; Pregnancy
• Online Access: http://hdl.handle.net/2336/84473; https://doi.org/10.1093/hmg/8.9.1799

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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.