Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

Unnur Styrkarsdottir, Gudmar Thorleifsson, Patrick Sulem, Daniel F. Gudbjartsson, Asgeir Sigurdsson, Aslaug Jonasdottir, Adalbjorg Jonasdottir, Asmundur Oddsson, Agnar Helgason, Olafur T. Magnusson, G. Bragi Walters, Michael L. Frigge, Hafdis T. Helgadottir, Hrefna Johannsdottir, Kristin Bergsteinsdottir, Margret H. Ogmundsdottir, Jacqueline R. Center, Tuan V. Nguyen, John A. Eisman, Claus Christiansen, Erikur Steingrimsson, Jon G. Jonasson, Laufey Tryggvadottir, Gudmundur I. Eyjolfsson, Asgeir Theodors, Thorvaldur Jonsson, Thorvaldur Ingvarsson, Isleifur Olafsson, Thorunn Rafnar, Augustine Kong, Gunnar Sigurdsson, Gisli Masson, Unnur Thorsteinsdottir () and Kari Stefansson ()
Additional contact information
Unnur Styrkarsdottir: deCODE Genetics/Amgen
Gudmar Thorleifsson: deCODE Genetics/Amgen
Patrick Sulem: deCODE Genetics/Amgen
Daniel F. Gudbjartsson: deCODE Genetics/Amgen
Asgeir Sigurdsson: deCODE Genetics/Amgen
Aslaug Jonasdottir: deCODE Genetics/Amgen
Adalbjorg Jonasdottir: deCODE Genetics/Amgen
Asmundur Oddsson: deCODE Genetics/Amgen
Agnar Helgason: deCODE Genetics/Amgen
Olafur T. Magnusson: deCODE Genetics/Amgen
G. Bragi Walters: deCODE Genetics/Amgen
Michael L. Frigge: deCODE Genetics/Amgen
Hafdis T. Helgadottir: deCODE Genetics/Amgen
Hrefna Johannsdottir: deCODE Genetics/Amgen
Kristin Bergsteinsdottir: University of Iceland, Biomedical Center
Margret H. Ogmundsdottir: University of Iceland, Biomedical Center
Jacqueline R. Center: Garvan Institute of Medical Research
Tuan V. Nguyen: Garvan Institute of Medical Research
John A. Eisman: Garvan Institute of Medical Research
Claus Christiansen: Center for Clinical and Basic Research (CCBR)
Erikur Steingrimsson: University of Iceland, Biomedical Center
Jon G. Jonasson: Landspitali, The National University Hospital of Iceland
Laufey Tryggvadottir: Faculty of Medicine, University of Iceland
Gudmundur I. Eyjolfsson: Laboratory in Mjodd (RAM), Icelandic Medical Center (Laeknasetrid)
Asgeir Theodors: Landspitali, The National University Hospital of Iceland
Thorvaldur Jonsson: Faculty of Medicine, University of Iceland
Thorvaldur Ingvarsson: Akureyri Hospital
Isleifur Olafsson: Landspitali, The National University Hospital of Iceland
Thorunn Rafnar: deCODE Genetics/Amgen
Augustine Kong: deCODE Genetics/Amgen
Gunnar Sigurdsson: Faculty of Medicine, University of Iceland
Gisli Masson: deCODE Genetics/Amgen
Unnur Thorsteinsdottir: deCODE Genetics/Amgen
Kari Stefansson: deCODE Genetics/Amgen

Nature, 2013, vol. 497, issue 7450, 517-520

Abstract: Analysis of whole-genome sequence data of Icelandic individuals has revealed a rare nonsense mutation within the LGR4 gene that is strongly associated with, among other things, low bone mineral density, late onset of menarche, and increased risk of biliary tract cancer.

Date: 2013
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DOI: 10.1038/nature12124

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