Nature Communications (Jan 2016)
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,
- Kari Stefansson
Affiliations
- 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
- Division of Endocrinology and Metabolism, 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
- Department of Medicine and Therapeutics, Faculty of Medicine, The Chinese University of Hong Kong
- Jenny S.W. Lee
- Department of Medicine and Therapeutics, 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
- Department of Medicine and Therapeutics, 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
- Division of Endocrinology and Metabolism, 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
- Department of Orthopedic Surgery, Akureyri Hospital
- Jung-Min Koh
- Division of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine
- Nelson L.S. Tang
- Department of Chemical Pathology, 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
- Department of Endocrinology and Metabolism, Landspitali, The National University Hospital of Iceland
- Unnur Thorsteinsdottir
- deCODE genetics/Amgen
- Kari Stefansson
- deCODE genetics/Amgen
- DOI
- https://doi.org/10.1038/ncomms10129
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 8
Abstract
Bone mineral density (BMD) is the best predictor of osteoporotic fracture risk. Here, the authors perform a genome wide association study in Icelanders and people of European and East-Asian descent, and identify a new allele in intron 15 of the PTCH1gene that associates with reduced BMD.
