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

@article{Styrkarsdottir2013NonsenseMI,
  title={Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits},
  author={Unnur Styrkarsdottir and Gudmar Thorleifsson and Patrick Sulem and Daniel Fannar Gudbjartsson and Asgeir Sigurdsson and Aslaug Jonasdottir and Adalbjorg Jonasdottir and Asmundur Oddsson and Agnar Helgason and Olafur Th. Magnusson and G Bragi Walters and Michael L Frigge and Hafdis Th Helgadottir and Hrefna S J{\'o}hannsd{\'o}ttir and Kristin Bergsteinsdottir and Margret Helga Ogmundsdottir and Jacqueline R. Center and Tuan V. Nguyen and John A. Eisman and C. Christiansen and Erikur Steingrimsson and J{\'o}n Gunnlaugur J{\'o}nasson and Laufey Tryggvadottir and Gudmundur Ingi Eyjolfsson and Asgeir Theod{\'o}rs and Thorvaldur J{\'o}nsson and Thorvaldur Ingvarsson and {\'I}sleifur {\'O}lafsson and Thorunn Rafnar and Augustine Kong and Gunnar Sigurdsson and G{\'i}sli M{\'a}sson and Unnur Thorsteinsdottir and K{\'a}ri Stef{\'a}nsson},
  journal={Nature},
  year={2013},
  volume={497},
  pages={517-520}
}
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… CONTINUE READING

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