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

Publisher:
Nature Publishing Group
Publication Type:
Journal Article
Citation:
Nature Communications, 2016, 7 pp. 1 - 8
Issue Date:
2016-01-06
Full metadata record
Files in This Item:
Filename Description Size
ncomms10129.pdfPublished Version967.41 kB
Adobe PDF
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.
Please use this identifier to cite or link to this item: