Nature Communications (Oct 2020)
MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk
- Ida Surakka,
- Lars G. Fritsche,
- Wei Zhou,
- Joshua Backman,
- Jack A. Kosmicki,
- Haocheng Lu,
- Ben Brumpton,
- Jonas B. Nielsen,
- Maiken E. Gabrielsen,
- Anne Heidi Skogholt,
- Brooke Wolford,
- Sarah E. Graham,
- Y. Eugene Chen,
- Seunggeun Lee,
- Hyun Min Kang,
- Arnulf Langhammer,
- Siri Forsmo,
- Bjørn O. Åsvold,
- Unnur Styrkarsdottir,
- Hilma Holm,
- Daniel Gudbjartsson,
- Kari Stefansson,
- Aris Baras,
- Regeneron Genetics Center,
- Goncalo R. Abecasis,
- Kristian Hveem,
- Cristen J. Willer
Affiliations
- Ida Surakka
- Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
- Lars G. Fritsche
- Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
- Wei Zhou
- Program in Medical and Population Genetics, Broad Institute of Harvard and MIT
- Joshua Backman
- Regeneron Genetics Center
- Jack A. Kosmicki
- Regeneron Genetics Center
- Haocheng Lu
- Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
- Ben Brumpton
- K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology
- Jonas B. Nielsen
- Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
- Maiken E. Gabrielsen
- K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology
- Anne Heidi Skogholt
- K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology
- Brooke Wolford
- Department of Computational Medicine and Bioinformatics, University of Michigan, Palmer Commons
- Sarah E. Graham
- Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
- Y. Eugene Chen
- Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
- Seunggeun Lee
- Department of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health
- Hyun Min Kang
- Department of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health
- Arnulf Langhammer
- HUNT Research Centre, Department of Public Health and Nursing, Norwegian University of Science and Technology
- Siri Forsmo
- HUNT Research Centre, Department of Public Health and Nursing, Norwegian University of Science and Technology
- Bjørn O. Åsvold
- K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology
- Unnur Styrkarsdottir
- deCODE genetics/Amgen, Inc.
- Hilma Holm
- deCODE genetics/Amgen, Inc.
- Daniel Gudbjartsson
- deCODE genetics/Amgen, Inc.
- Kari Stefansson
- deCODE genetics/Amgen, Inc.
- Aris Baras
- Regeneron Genetics Center
- Regeneron Genetics Center
- Regeneron Genetics Center
- Goncalo R. Abecasis
- Department of Biostatistics and Center for Statistical Genetics, University of Michigan School of Public Health
- Kristian Hveem
- K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology
- Cristen J. Willer
- Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan
- DOI
- https://doi.org/10.1038/s41467-020-17315-0
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 8
Abstract
Bone mineral density (BMD) is associated with fracture risk and many genetic loci with small effect sizes have been discovered by genome-wide association studies (GWAS). Here, the authors discover a large-effect rare loss-of-function genetic variant for BMD in the MEPE gene in the Norwegian HUNT study which replicates in the UK Biobank.
