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 (hip). 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

DATE ADDED:

2017-05-02

DATE UPDATED:

2020-05-06

SPECIES:

AUTHORS:

F Rivadeneira, U Styrkársdottir, K Estrada, BV Halldórsson, YH Hsu, JB Richards, MC Zillikens, FK Kavvoura, N Amin, YS Aulchenko, LA Cupples, P Deloukas, S Demissie, E Grundberg, A Hofman, A Kong, D Karasik, JB van Meurs, B Oostra, T Pastinen, HA Pols, G Sigurdsson, N Soranzo, G Thorleifsson, U Thorsteinsdottir, FM Williams, SG Wilson, Y Zhou, SH Ralston, CM van Duijn, T Spector, DP Kiel, K Stefansson, JP Ioannidis, AG Uitterlinden

TITLE:

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

JOURNAL:

Nature genetics Nov 2009, Vol 41, pp. 1199-206

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. PUBMED: 19801982
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