Article
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
Nature - 23 May 2013
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
Abstract excerpt
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...
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