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Article

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

Nature communications - 6 Jan 2016

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

Abstract excerpt

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...

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Identifiers

PMID: 26733130
DOI: 10.1038/ncomms10129
PMCID: PMC4729819

Genes

PTCH1
RSPO3
AXIN1
SOST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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