Published in

Nature Research, Nature Genetics, 11(41), p. 1199-1206, 2009

DOI: 10.1038/ng.446

Links

Tools

Export citation

Search in Google Scholar

Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies

Journal article published in 2009 by Joyce B. van Meurs, Cornelia M. van Duijn, U. Styrakarsdottir, Fernando Rivadeneira, M. Carola Zillikens, Bjarni V. Halldórsson, Karol Estrada, Unnur Styrkársdottir, Yi-Hsiang Hsu, J. Brent Richards, J. Brent Richards, Fotini K. Kavvoura, M. Carola Zillikens, Yurii S. Aulchenko, Halldórsson Bv and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Orange circle
Postprint: archiving restricted
Upload
Red circle
Published version: archiving forbidden
Policy details
Data provided by SHERPA/RoMEO

Abstract

Bone mineral density (BMD) is a heritable complex trait used in the clinical diagnosis of osteoporosis and the assessment of fracture risk. We performed meta-analysis of five genome-wide association studies of femoral neck and lumbar spine BMD in 19,195 subjects of Northern European descent. We identified 20 BMD loci that reached genome-wide significance (GWS; P < 5 x 10(-8)), of which 13 map to regions not previously associated with this trait: 1p31.3 (GPR177), 2p21 (SPTBN1), 3p22 (CTNNB1), 4q21.1 (MEPE), 5q14 (MEF2C), 7p14 (STARD3NL), 7q21.3 (FLJ42280), 11p11.2 (LRP4, ARHGAP1, F2), 11p14.1 (DCDC5), 11p15 (SOX6), 16q24 (FOXL1), 17q21 (HDAC5) and 17q12 (CRHR1). The meta-analysis also confirmed at GWS level seven known BMD loci on 1p36 (ZBTB40), 6q25 (ESR1), 8q24 (TNFRSF11B), 11q13.4 (LRP5), 12q13 (SP7), 13q14 (TNFSF11) and 18q21 (TNFRSF11A). The many SNPs associated with BMD map to genes in signaling pathways with relevance to bone metabolism and highlight the complex genetic architecture that underlies osteoporosis and variation in BMD.