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

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

Title: Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures
Author: Styrkarsdottir, Unnur   orcid.org/0000-0001-8146-8278
Thorleifsson, Gudmar   orcid.org/0000-0003-4623-9087
Gudjonsson, Sigurjon A.
Sigurdsson, Asgeir
Center, Jacqueline R.
Lee, Seung Hun
Nguyen, Tuan V.
Kwok, Timothy C.Y.
Lee, Jenny S.W.
Ho, Suzanne C.
... 13 more authors Show all authors
Date: 2016-01-06
Language: English
University/Institute: Háskólinn á Akureyri
University of Akureyri
Háskóli Íslands
University of Iceland
School: Heilbrigðisvísindasvið (HA)
School of Health Sciences (UA)
Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Department: Heilbrigðisvísindastofnun (HA)
Research Centre for Health Science (UA)
Læknadeild (HÍ)
Faculty of Medicine (UI)
Series: Nature Communications;7(1)
ISSN: 2041-1723 (eISSN)
DOI: 10.1038/ncomms10129
Subject: Osteoporosis; Gene research; Beinþynning; Genarannsóknir
URI: https://hdl.handle.net/20.500.11815/1363

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Citation:

Styrkarsdottir, U., Thorleifsson, G., Gudjonsson, S. A., Sigurdsson, A., Center, J. R., Lee, S. H., . . . Stefansson, K. (2016). Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures. Nature Communications, 7(1). doi:10.1038/ncomms10129

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 ¼ 1.0 10 11, b ¼ 0.09). We also identified a new spine BMD signal in RSPO3, rs577721086 (freq. 6.8%), that associates with increased spine BMD (P ¼ 6.6 10 10, b ¼ 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.

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