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

• Published in: Nature communications Vol. 7; no. 1; pp. 10129 - 8
• Main 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
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 06.01.2016; Nature Publishing Group; Nature Portfolio
• Subjects: 38; 631/208/2489/144; 631/208/457/649; 631/443/319/1642/316/801; Aged; Aged, 80 and over; Bone Density - genetics; Bone mineral density; Female; Fractures, Spontaneous - genetics; Fractures, Spontaneous - pathology; Gene Expression Regulation - physiology; Genetic Variation; Genome-Wide Association Study; Genotype; Humanities and Social Sciences; Humans; Iceland; Male; Middle Aged; multidisciplinary; Osteoporosis; Osteoporosis - complications; Patched Receptors; Patched-1 Receptor; Receptors, Cell Surface - genetics; Receptors, Cell Surface - metabolism; Science; Spine; Spine - physiology; Thrombospondins - genetics; Thrombospondins - metabolism

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, re...