DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Bone mineral density. The EFO term bone density was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: bone density

SCORE TYPE:

P-Value

THRESHOLD:

<= 0.05

GENES IN THRESHOLD:

89

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-10-22

SPECIES:

AUTHORS:

K Estrada, U Styrkarsdottir, E Evangelou, YH Hsu, EL Duncan, EE Ntzani, L Oei, OM Albagha, N Amin, JP Kemp, DL Koller, G Li, CT Liu, RL Minster, A Moayyeri, L Vandenput, D Willner, SM Xiao, LM Yerges-Armstrong, HF Zheng, N Alonso, J Eriksson, CM Kammerer, SK Kaptoge, PJ Leo, G Thorleifsson, SG Wilson, JF Wilson, V Aalto, M Alen, AK Aragaki, T Aspelund, JR Center, Z Dailiana, DJ Duggan, M Garcia, N Garcia-Giralt, S Giroux, G Hallmans, LJ Hocking, LB Husted, KA Jameson, R Khusainova, GS Kim, C Kooperberg, T Koromila, M Kruk, M Laaksonen, AZ Lacroix, SH Lee, PC Leung, JR Lewis, L Masi, S Mencej-Bedrac, TV Nguyen, X Nogues, MS Patel, J Prezelj, LM Rose, S Scollen, K Siggeirsdottir, AV Smith, O Svensson, S Trompet, O Trummer, NM van Schoor, J Woo, K Zhu, S Balcells, ML Brandi, BM Buckley, S Cheng, C Christiansen, C Cooper, G Dedoussis, I Ford, M Frost, D Goltzman, J González-Macías, M Kähönen, M Karlsson, E Khusnutdinova, JM Koh, P Kollia, BL Langdahl, WD Leslie, P Lips, Ö Ljunggren, RS Lorenc, J Marc, D Mellström, B Obermayer-Pietsch, JM Olmos, U Pettersson-Kymmer, DM Reid, JA Riancho, PM Ridker, F Rousseau, PE Slagboom, NL Tang, R Urreizti, W Van Hul, J Viikari, MT Zarrabeitia, YS Aulchenko, M Castano-Betancourt, E Grundberg, L Herrera, T Ingvarsson, H Johannsdottir, T Kwan, R Li, R Luben, C Medina-Gómez, ST Palsson, S Reppe, JI Rotter, G Sigurdsson, JB van Meurs, D Verlaan, FM Williams, AR Wood, Y Zhou, KM Gautvik, T Pastinen, S Raychaudhuri, JA Cauley, DI Chasman, GR Clark, SR Cummings, P Danoy, EM Dennison, R Eastell, JA Eisman, V Gudnason, A Hofman, RD Jackson, G Jones, JW Jukema, KT Khaw, T Lehtimäki, Y Liu, M Lorentzon, E McCloskey, BD Mitchell, K Nandakumar, GC Nicholson, BA Oostra, M Peacock, HA Pols, RL Prince, O Raitakari, IR Reid, J Robbins, PN Sambrook, PC Sham, AR Shuldiner, FA Tylavsky, CM van Duijn, NJ Wareham, LA Cupples, MJ Econs, DM Evans, TB Harris, AW Kung, BM Psaty, J Reeve, TD Spector, EA Streeten, MC Zillikens, U Thorsteinsdottir, C Ohlsson, D Karasik, JB Richards, MA Brown, K Stefansson, AG Uitterlinden, SH Ralston, JP Ioannidis, DP Kiel, F Rivadeneira

TITLE:

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

JOURNAL:

Nature genetics Apr 2012, Vol 44, pp. 491-501

ABSTRACT:

Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility. PUBMED: 22504420
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