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

doi:10.1038/s41467-020-17315-0

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Article

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

Nature communications - 23 Oct 2020

Surakka Ida, Fritsche Lars G, Zhou Wei, Backman Joshua, Kosmicki Jack A, Lu Haocheng, Brumpton Ben, Nielsen Jonas B, Gabrielsen Maiken E, Skogholt Anne Heidi, Wolford Brooke, Graham Sarah E, Chen Y Eugene, Lee Seunggeun, Kang Hyun Min, Langhammer Arnulf, Forsmo Siri, Åsvold Bjørn O, Styrkarsdottir Unnur, Holm Hilma, Gudbjartsson Daniel, Stefansson Kari, Baras Aris, Abecasis Goncalo R, Hveem Kristian, Willer Cristen J

Abstract excerpt

A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enriching the discovery cohort for loss-of-function (LoF) mutations by sequencing a subset of the Nord-Trøndelag Health Study, followed by imputation in the remaining sample (N = 19,705), and identified ten...

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PMID: 33097703
DOI: 10.1038/s41467-020-17315-0
PMCID: PMC7585430

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