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

Author

Listed:
  • 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
    School of Medicine Sydney, University of Notre Dame Australia
    Clinical School, St Vincent’s Hospital
    Faculty of Medicine, University of New South Wales (UNSW))

  • Seung Hun Lee

    (Asan Medical Center, University of Ulsan College of Medicine)

  • Tuan V. Nguyen

    (Osteoporosis and Bone Biology, Garvan Institute of Medical Research
    Faculty of Medicine, University of New South Wales (UNSW)
    Centre for Health Technologies, University of Technology)

  • 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
    Institution of Health Science, University of Akureyri)

  • 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
    School of Medicine Sydney, University of Notre Dame Australia
    Clinical School, St Vincent’s Hospital
    Faculty of Medicine, University of New South Wales (UNSW))

  • Claus Christiansen

    (Nordic Bioscience A/S)

  • Gunnar Sigurdsson

    (Landspitali, The National University Hospital of Iceland
    Faculty of Medicine, University of Iceland)

  • Unnur Thorsteinsdottir

    (deCODE genetics/Amgen
    Faculty of Medicine, University of Iceland)

  • Kari Stefansson

    (deCODE genetics/Amgen
    Faculty of Medicine, University of Iceland)

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.

Suggested Citation

  • 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 & J, 2016. "Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures," Nature Communications, Nature, vol. 7(1), pages 1-8, April.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms10129
    DOI: 10.1038/ncomms10129
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