Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

Unnur Styrkarsdottir (), Gudmar Thorleifsson, Sigurjon A. Gudjonsson, Asgeir Sigurdsson, Jacqueline R. Center, Seung Hun Lee, Tuan V. Nguyen, Timothy C.Y. Kwok, Jenny S.W. Lee, Suzanne C. Ho, Jean Woo, Ping-C. Leung, Beom-Jun Kim, Thorunn Rafnar, Lambertus A. Kiemeney, Thorvaldur Ingvarsson, Jung-Min Koh, Nelson L.S. Tang, John A. Eisman, Claus Christiansen, Gunnar Sigurdsson, Unnur Thorsteinsdottir and Kari Stefansson ()
Additional contact information
Unnur Styrkarsdottir: deCODE genetics/Amgen
Gudmar Thorleifsson: deCODE genetics/Amgen
Sigurjon A. Gudjonsson: deCODE genetics/Amgen
Asgeir Sigurdsson: deCODE genetics/Amgen
Jacqueline R. Center: Osteoporosis and Bone Biology, Garvan Institute of Medical Research
Seung Hun Lee: Asan Medical Center, University of Ulsan College of Medicine
Tuan V. Nguyen: Osteoporosis and Bone Biology, Garvan Institute of Medical Research
Timothy C.Y. Kwok: Faculty of Medicine, The Chinese University of Hong Kong
Jenny S.W. Lee: Faculty of Medicine, The Chinese University of Hong Kong
Suzanne C. Ho: JC School of Public Health and Primary Care, Faculty of Medicine, The Chinese University of Hong Kong
Jean Woo: Faculty of Medicine, The Chinese University of Hong Kong
Ping-C. Leung: Jockey Club Centre for Osteoporosis Care and Control, Faculty of Medicine, The Chinese University of Hong Kong
Beom-Jun Kim: Asan Medical Center, University of Ulsan College of Medicine
Thorunn Rafnar: deCODE genetics/Amgen
Lambertus A. Kiemeney: Radboud University Medical Center, Radboud Institute for Health Sciences
Thorvaldur Ingvarsson: Akureyri Hospital
Jung-Min Koh: Asan Medical Center, University of Ulsan College of Medicine
Nelson L.S. Tang: and Laboratory for Genetics of Disease Susceptibility, Li Ka Shing Institute of Health Sciences, Faculty of Medicine, The Chinese University of Hong Kong
John A. Eisman: Osteoporosis and Bone Biology, Garvan Institute of Medical Research
Claus Christiansen: Nordic Bioscience A/S
Gunnar Sigurdsson: Landspitali, The National University Hospital of Iceland
Unnur Thorsteinsdottir: deCODE genetics/Amgen
Kari Stefansson: deCODE genetics/Amgen

Nature Communications, 2016, vol. 7, issue 1, 1-8

Abstract: Abstract Bone mineral density (BMD) is a measure of osteoporosis and is useful in evaluating the risk of fracture. In a genome-wide association study of BMD among 20,100 Icelanders, with follow-up in 10,091 subjects of European and East-Asian descent, we found a new BMD locus that harbours the PTCH1 gene, represented by rs28377268 (freq. 11.4–22.6%) that associates with reduced spine BMD (P=1.0 × 10−11, β=−0.09). We also identified a new spine BMD signal in RSPO3, rs577721086 (freq. 6.8%), that associates with increased spine BMD (P=6.6 × 10−10, β=0.14). Importantly, both variants associate with osteoporotic fractures and affect expression of the PTCH1 and RSPO3 genes that is in line with their influence on BMD and known biological function of these genes. Additional new BMD signals were also found at the AXIN1 and SOST loci and a new lead SNP at the EN1 locus.

Date: 2016
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DOI: 10.1038/ncomms10129

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