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Study Report - Meta-analysis of bone mineral density in subjects of Northern European descent (HGVST366)| HGVbaseG2P identifier | HGVST366 | ||||||||||||||||||||
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| Study name | Meta-analysis of bone mineral density in subjects of Northern European descent | ||||||||||||||||||||
| Phenotype(s) tested | Bone mineral density (hip) Bone mineral density (spine) |
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| Study design | Quantitative trait analysis | ||||||||||||||||||||
| Genotype Platforms |
(imputed) Affymetrix & Illumina 2,543,686 | ||||||||||||||||||||
| 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. | ||||||||||||||||||||
| Submission information |
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| Cross-references |
NHGRI GWAS catalog study annotation for HGVST366 |
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| Background | Not supplied | ||||||||||||||||||||
| Objectives | Not supplied | ||||||||||||||||||||
| Key results | Not supplied | ||||||||||||||||||||
| Conclusions | Not supplied | ||||||||||||||||||||
| Reason for study size | Not supplied | ||||||||||||||||||||
| Study power | Not supplied | ||||||||||||||||||||
| Sources of bias | Not supplied | ||||||||||||||||||||
| Limitations | Not supplied | ||||||||||||||||||||
| Acknowledgements | Not supplied | ||||||||||||||||||||
| Other citations |
Hindorff LA, Sethupathy P, Junkins HA et al.
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proceedings of the National Academy of Sciences U S A. 2009 May 27
Rivadeneira F, Styrk·rsdottir U, Estrada K et al.
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nature genetics 2009;41(11):1199-206 |
