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Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies
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 iden...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
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2009
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2783489/ https://www.ncbi.nlm.nih.gov/pubmed/19801982 http://dx.doi.org/10.1038/ng.446 |
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| author | Rivadeneira, Fernando Styrkársdottir, Unnur Estrada, Karol Halldórsson, Bjarni V. Hsu, Yi-Hsiang Richards, J. Brent Zillikens, M. Carola Kavvoura, Fotini K. Amin, Najaf Aulchenko, Yurii S. Cupples, L. Adrienne Deloukas, Panagiotis Demissie, Serkalem Grundberg, Elin Hofman, Albert Kong, Augustine Karasik, David van Meurs, Joyce B. Oostra, Ben Pastinen, Tomi Pols, Huibert A.P. Sigurdsson, Gunnar Soranzo, Nicole Thorleifsson, Gudmar Thorsteinsdottir, Unnur Williams, Frances MK Wilson, Scott G. Zhou, Yanhua Ralston, Stuart H. van Duijn, Cornelia M. Spector, Timothy Kiel, Douglas P. Stefansson, Kari Ioannidis, John P.A. Uitterlinden, André G. |
| author_facet | Rivadeneira, Fernando Styrkársdottir, Unnur Estrada, Karol Halldórsson, Bjarni V. Hsu, Yi-Hsiang Richards, J. Brent Zillikens, M. Carola Kavvoura, Fotini K. Amin, Najaf Aulchenko, Yurii S. Cupples, L. Adrienne Deloukas, Panagiotis Demissie, Serkalem Grundberg, Elin Hofman, Albert Kong, Augustine Karasik, David van Meurs, Joyce B. Oostra, Ben Pastinen, Tomi Pols, Huibert A.P. Sigurdsson, Gunnar Soranzo, Nicole Thorleifsson, Gudmar Thorsteinsdottir, Unnur Williams, Frances MK Wilson, Scott G. Zhou, Yanhua Ralston, Stuart H. van Duijn, Cornelia M. Spector, Timothy Kiel, Douglas P. Stefansson, Kari Ioannidis, John P.A. Uitterlinden, André G. |
| author_sort | Rivadeneira, Fernando |
| collection | PubMed |
| description | 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 loci reaching genome-wide significance (GWS; P<5×10(−8)), of which 13 map to new regions including 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 metaanalysis 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 numerous SNPs associated with BMD map to genes in signaling pathways with relevance to bone metabolism, and highlight the complex genetic architecture underlying osteoporosis and BMD variation. |
| format | Text |
| id | pubmed-2783489 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2009 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-27834892010-05-01 Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies Rivadeneira, Fernando Styrkársdottir, Unnur Estrada, Karol Halldórsson, Bjarni V. Hsu, Yi-Hsiang Richards, J. Brent Zillikens, M. Carola Kavvoura, Fotini K. Amin, Najaf Aulchenko, Yurii S. Cupples, L. Adrienne Deloukas, Panagiotis Demissie, Serkalem Grundberg, Elin Hofman, Albert Kong, Augustine Karasik, David van Meurs, Joyce B. Oostra, Ben Pastinen, Tomi Pols, Huibert A.P. Sigurdsson, Gunnar Soranzo, Nicole Thorleifsson, Gudmar Thorsteinsdottir, Unnur Williams, Frances MK Wilson, Scott G. Zhou, Yanhua Ralston, Stuart H. van Duijn, Cornelia M. Spector, Timothy Kiel, Douglas P. Stefansson, Kari Ioannidis, John P.A. Uitterlinden, André G. Nat Genet Article 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 loci reaching genome-wide significance (GWS; P<5×10(−8)), of which 13 map to new regions including 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 metaanalysis 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 numerous SNPs associated with BMD map to genes in signaling pathways with relevance to bone metabolism, and highlight the complex genetic architecture underlying osteoporosis and BMD variation. 2009-10-04 2009-11 /pmc/articles/PMC2783489/ /pubmed/19801982 http://dx.doi.org/10.1038/ng.446 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Rivadeneira, Fernando Styrkársdottir, Unnur Estrada, Karol Halldórsson, Bjarni V. Hsu, Yi-Hsiang Richards, J. Brent Zillikens, M. Carola Kavvoura, Fotini K. Amin, Najaf Aulchenko, Yurii S. Cupples, L. Adrienne Deloukas, Panagiotis Demissie, Serkalem Grundberg, Elin Hofman, Albert Kong, Augustine Karasik, David van Meurs, Joyce B. Oostra, Ben Pastinen, Tomi Pols, Huibert A.P. Sigurdsson, Gunnar Soranzo, Nicole Thorleifsson, Gudmar Thorsteinsdottir, Unnur Williams, Frances MK Wilson, Scott G. Zhou, Yanhua Ralston, Stuart H. van Duijn, Cornelia M. Spector, Timothy Kiel, Douglas P. Stefansson, Kari Ioannidis, John P.A. Uitterlinden, André G. Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies |
| title | Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies |
| title_full | Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies |
| title_fullStr | Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies |
| title_full_unstemmed | Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies |
| title_short | Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies |
| title_sort | twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2783489/ https://www.ncbi.nlm.nih.gov/pubmed/19801982 http://dx.doi.org/10.1038/ng.446 |
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