MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

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 stu...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Publishing Group 2020-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-020-17315-0