GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

Unnur Styrkarsdottir (), Olafur A. Stefansson, Kristbjorg Gunnarsdottir, Gudmar Thorleifsson, Sigrun H. Lund, Lilja Stefansdottir, Kristinn Juliusson, Arna B. Agustsdottir, Florian Zink, Gisli H. Halldorsson, Erna V. Ivarsdottir, Stefania Benonisdottir, Hakon Jonsson, Arnaldur Gylfason, Kristjan Norland, Katerina Trajanoska, Cindy G. Boer, Lorraine Southam, Jason C. S. Leung, Nelson L. S. Tang, Timothy C. Y. Kwok, Jenny S. W. Lee, Suzanne C. Ho, Inger Byrjalsen, Jacqueline R. Center, Seung Hun Lee, Jung-Min Koh, L. Stefan Lohmander, Lan T. Ho-Pham, Tuan V. Nguyen, John A. Eisman, Jean Woo, Ping-C. Leung, John Loughlin, Eleftheria Zeggini, Claus Christiansen, Fernando Rivadeneira, Joyce Meurs, Andre G. Uitterlinden, Brynjolfur Mogensen, Helgi Jonsson, Thorvaldur Ingvarsson, Gunnar Sigurdsson, Rafn Benediktsson, Patrick Sulem, Ingileif Jonsdottir, Gisli Masson, Hilma Holm, Gudmundur L. Norddahl, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson and Kari Stefansson ()
Additional contact information
Unnur Styrkarsdottir: deCODE genetics/Amgen Inc.
Olafur A. Stefansson: deCODE genetics/Amgen Inc.
Kristbjorg Gunnarsdottir: deCODE genetics/Amgen Inc.
Gudmar Thorleifsson: deCODE genetics/Amgen Inc.
Sigrun H. Lund: deCODE genetics/Amgen Inc.
Lilja Stefansdottir: deCODE genetics/Amgen Inc.
Kristinn Juliusson: deCODE genetics/Amgen Inc.
Arna B. Agustsdottir: deCODE genetics/Amgen Inc.
Florian Zink: deCODE genetics/Amgen Inc.
Gisli H. Halldorsson: deCODE genetics/Amgen Inc.
Erna V. Ivarsdottir: deCODE genetics/Amgen Inc.
Stefania Benonisdottir: deCODE genetics/Amgen Inc.
Hakon Jonsson: deCODE genetics/Amgen Inc.
Arnaldur Gylfason: deCODE genetics/Amgen Inc.
Kristjan Norland: deCODE genetics/Amgen Inc.
Katerina Trajanoska: ErasmusMC
Cindy G. Boer: ErasmusMC
Lorraine Southam: Wellcome Trust Sanger Institute
Jason C. S. Leung: The Chinese University of Hong Kong
Nelson L. S. Tang: The Chinese University of Hong Kong
Timothy C. Y. Kwok: The Chinese University of Hong Kong
Jenny S. W. Lee: The Chinese University of Hong Kong
Suzanne C. Ho: The Chinese University of Hong Kong
Inger Byrjalsen: Nordic Bioscience A/S
Jacqueline R. Center: Garvan Institute of Medical Research
Seung Hun Lee: University of Ulsan College of Medicine
Jung-Min Koh: University of Ulsan College of Medicine
L. Stefan Lohmander: Lund University
Lan T. Ho-Pham: Ton Duc Thang University
Tuan V. Nguyen: Garvan Institute of Medical Research
John A. Eisman: Garvan Institute of Medical Research
Jean Woo: The Chinese University of Hong Kong
Ping-C. Leung: The Chinese University of Hong Kong
John Loughlin: Newcastle University
Eleftheria Zeggini: Wellcome Trust Sanger Institute
Claus Christiansen: Nordic Bioscience A/S
Fernando Rivadeneira: ErasmusMC
Joyce Meurs: ErasmusMC
Andre G. Uitterlinden: ErasmusMC
Brynjolfur Mogensen: University of Iceland
Helgi Jonsson: University of Iceland
Thorvaldur Ingvarsson: University of Iceland
Gunnar Sigurdsson: University of Iceland
Rafn Benediktsson: University of Iceland
Patrick Sulem: deCODE genetics/Amgen Inc.
Ingileif Jonsdottir: deCODE genetics/Amgen Inc.
Gisli Masson: deCODE genetics/Amgen Inc.
Hilma Holm: deCODE genetics/Amgen Inc.
Gudmundur L. Norddahl: deCODE genetics/Amgen Inc.
Unnur Thorsteinsdottir: deCODE genetics/Amgen Inc.
Daniel F. Gudbjartsson: deCODE genetics/Amgen Inc.
Kari Stefansson: deCODE genetics/Amgen Inc.

Nature Communications, 2019, vol. 10, issue 1, 1-13

Abstract: Abstract Bone area is one measure of bone size that is easily derived from dual-energy X-ray absorptiometry (DXA) scans. In a GWA study of DXA bone area of the hip and lumbar spine (N ≥ 28,954), we find thirteen independent association signals at twelve loci that replicate in samples of European and East Asian descent (N = 13,608 – 21,277). Eight DXA area loci associate with osteoarthritis, including rs143384 in GDF5 and a missense variant in COL11A1 (rs3753841). The strongest DXA area association is with rs11614913[T] in the microRNA MIR196A2 gene that associates with lumbar spine area (P = 2.3 × 10−42, β = −0.090) and confers risk of hip fracture (P = 1.0 × 10−8, OR = 1.11). We demonstrate that the risk allele is less efficient in repressing miR-196a-5p target genes. We also show that the DXA area measure contributes to the risk of hip fracture independent of bone density.

Date: 2019
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DOI: 10.1038/s41467-019-09860-0

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