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

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Authors
Styrkarsdottir, Unnur
Thorleifsson, Gudmar
Sulem, Patrick
Gudbjartsson, Daniel F
Sigurdsson, Asgeir
Jonasdottir, Aslaug
Jonasdottir, Adalbjorg
Oddsson, Asmundur
Helgason, Agnar
Magnusson, Olafur T
Walters, G Bragi
Frigge, Michael L
Helgadottir, Hafdis T
Johannsdottir, Hrefna
Bergsteinsdottir, Kristin
Ogmundsdottir, Margret H
Center, Jacqueline R
Nguyen, Tuan V
Eisman, John A
Christiansen, Claus
Steingrimsson, Erikur
Jonasson, Jon G
Tryggvadottir, Laufey
Eyjolfsson, Gudmundur I
Theodors, Asgeir
Jonsson, Thorvaldur
Ingvarsson, Thorvaldur
Olafsson, Isleifur
Rafnar, Thorunn
Kong, Augustine
Sigurdsson, Gunnar
Masson, Gisli
Thorsteinsdottir, Unnur
Stefansson, Kari
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Issue Date
2013-05-23

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Citation
Nature 2013, 497(7450):517-20
Abstract
Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding common variants of small effects that contribute to the population diversity in BMD. Here we use BMD as a dichotomous trait, searching for variants that may have a direct effect on the risk of pathologically low BMD rather than on the regulation of BMD in the healthy population. Through whole-genome sequencing of Icelandic individuals, we found a rare nonsense mutation within the leucine-rich-repeat-containing G-protein-coupled receptor 4 (LGR4) gene (c.376C>T) that is strongly associated with low BMD, and with osteoporotic fractures. This mutation leads to termination of LGR4 at position 126 and fully disrupts its function. The c.376C>T mutation is also associated with electrolyte imbalance, late onset of menarche and reduced testosterone levels, as well as an increased risk of squamous cell carcinoma of the skin and biliary tract cancer. Interestingly, the phenotype of carriers of the c.376C>T mutation overlaps that of Lgr4 mutant mice.
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Additional Links
http://dx.doi.org/10.1038/nature12124
http://www.nature.com/nature/journal/v497/n7450/pdf/nature12124.pdf
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Archived with thanks to Nature
ae974a485f413a2113503eed53cd6c53
10.1038/nature12124
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