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

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Authors
Styrkarsdottir, Unnur
Thorleifsson, Gudmar
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
Woo, Jean
Leung, Ping-C
Kim, Beom-Jun
Rafnar, Thorunn
Kiemeney, Lambertus A
Ingvarsson, Thorvaldur
Koh, Jung-Min
Tang, Nelson L S
Eisman, John A
Christiansen, Claus
Sigurdsson, Gunnar
Thorsteinsdottir, Unnur
Stefansson, Kari
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Issue Date
2016

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Citation
Nat Commun. 2016, 7:10129
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.
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To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.
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http://dx.doi.org/ 10.1038/ncomms10129
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729819/
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Archived with thanks to Nature communications
ae974a485f413a2113503eed53cd6c53
10.1038/ncomms10129
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