Ontology highlight
ABSTRACT:
SUBMITTER: Styrkarsdottir U
PROVIDER: S-EPMC4729819 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Styrkarsdottir Unnur U Thorleifsson Gudmar G Gudjonsson Sigurjon A SA Sigurdsson Asgeir A Center Jacqueline R JR Lee Seung Hun SH Nguyen Tuan V TV Kwok Timothy C Y TCY Lee Jenny S W JSW Ho Suzanne C SC Woo Jean J Leung Ping-C PC Kim Beom-Jun BJ Rafnar Thorunn T Kiemeney Lambertus A LA Ingvarsson Thorvaldur T Koh Jung-Min JM Tang Nelson L S NLS Eisman John A JA Christiansen Claus C Sigurdsson Gunnar G Thorsteinsdottir Unnur U Stefansson Kari K
Nature communications 20160106
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 associa ...[more]