Linkage of osteoporosis to chromosome 20p12 and association to BMP2
To access full text version of this article. Please click on the hyperlink "Full Text" at the bottom of this page Osteoporotic fractures are a major cause of morbidity and mortality in ageing populations. Osteoporosis, defined as low bone mineral density (BMD) and associated fractures, hav...
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/13860 2023-05-15T16:48:32+02:00 Linkage of osteoporosis to chromosome 20p12 and association to BMP2 Styrkarsdottir, Unnur Cazier, Jean-Baptiste Kong, Augustine Rolfsson, Ottar Larsen, Helene Bjarnadottir, Emma Johannsdottir, Vala D Sigurdardottir, Margret S Bagger, Yu Christiansen, Claus Reynisdottir, Inga Grant, Struan F A Jonasson, Kristjan Frigge, Michael L Gulcher, Jeffrey R Sigurdsson, Gunnar Stefansson, Kari 2007-09-28 441899 bytes application/pdf YES http://hdl.handle.net/2336/13860 https://doi.org/10.1371/journal.pbio.0000069 en eng Public Library of Science http://dx.doi.org/10.1371/journal.pbio.0000069 PLoS Biol. 2003, 1(3):E69 1545-7885 14691541 doi:10.1371/journal.pbio.0000069 http://hdl.handle.net/2336/13860 PLoS biology Bone Density Bone Morphogenetic Proteins Chromosome Mapping Chromosomes Human Pair 20 Iceland Linkage (Genetics) Mutation Missense Osteoporosis Polymorphism Genetic Transforming Growth Factor beta Variation (Genetics) Article 2007 ftlandspitaliuni https://doi.org/10.1371/journal.pbio.0000069 2022-05-29T08:21:02Z To access full text version of this article. Please click on the hyperlink "Full Text" at the bottom of this page Osteoporotic fractures are a major cause of morbidity and mortality in ageing populations. Osteoporosis, defined as low bone mineral density (BMD) and associated fractures, have significant genetic components that are largely unknown. Linkage analysis in a large number of extended osteoporosis families in Iceland, using a phenotype that combines osteoporotic fractures and BMD measurements, showed linkage to Chromosome 20p12.3 (multipoint allele-sharing LOD, 5.10; p value, 6.3 x 10(-7)), results that are statistically significant after adjusting for the number of phenotypes tested and the genome-wide search. A follow-up association analysis using closely spaced polymorphic markers was performed. Three variants in the bone morphogenetic protein 2 (BMP2) gene, a missense polymorphism and two anonymous single nucleotide polymorphism haplotypes, were determined to be associated with osteoporosis in the Icelandic patients. The association is seen with many definitions of an osteoporotic phenotype, including osteoporotic fractures as well as low BMD, both before and after menopause. A replication study with a Danish cohort of postmenopausal women was conducted to confirm the contribution of the three identified variants. In conclusion, we find that a region on the short arm of Chromosome 20 contains a gene or genes that appear to be a major risk factor for osteoporosis and osteoporotic fractures, and our evidence supports the view that BMP2 is at least one of these genes. Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive PLoS Biology 1 3 e69 |
institution |
Open Polar |
collection |
Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
English |
topic |
Bone Density Bone Morphogenetic Proteins Chromosome Mapping Chromosomes Human Pair 20 Iceland Linkage (Genetics) Mutation Missense Osteoporosis Polymorphism Genetic Transforming Growth Factor beta Variation (Genetics) |
spellingShingle |
Bone Density Bone Morphogenetic Proteins Chromosome Mapping Chromosomes Human Pair 20 Iceland Linkage (Genetics) Mutation Missense Osteoporosis Polymorphism Genetic Transforming Growth Factor beta Variation (Genetics) Styrkarsdottir, Unnur Cazier, Jean-Baptiste Kong, Augustine Rolfsson, Ottar Larsen, Helene Bjarnadottir, Emma Johannsdottir, Vala D Sigurdardottir, Margret S Bagger, Yu Christiansen, Claus Reynisdottir, Inga Grant, Struan F A Jonasson, Kristjan Frigge, Michael L Gulcher, Jeffrey R Sigurdsson, Gunnar Stefansson, Kari Linkage of osteoporosis to chromosome 20p12 and association to BMP2 |
topic_facet |
Bone Density Bone Morphogenetic Proteins Chromosome Mapping Chromosomes Human Pair 20 Iceland Linkage (Genetics) Mutation Missense Osteoporosis Polymorphism Genetic Transforming Growth Factor beta Variation (Genetics) |
description |
To access full text version of this article. Please click on the hyperlink "Full Text" at the bottom of this page Osteoporotic fractures are a major cause of morbidity and mortality in ageing populations. Osteoporosis, defined as low bone mineral density (BMD) and associated fractures, have significant genetic components that are largely unknown. Linkage analysis in a large number of extended osteoporosis families in Iceland, using a phenotype that combines osteoporotic fractures and BMD measurements, showed linkage to Chromosome 20p12.3 (multipoint allele-sharing LOD, 5.10; p value, 6.3 x 10(-7)), results that are statistically significant after adjusting for the number of phenotypes tested and the genome-wide search. A follow-up association analysis using closely spaced polymorphic markers was performed. Three variants in the bone morphogenetic protein 2 (BMP2) gene, a missense polymorphism and two anonymous single nucleotide polymorphism haplotypes, were determined to be associated with osteoporosis in the Icelandic patients. The association is seen with many definitions of an osteoporotic phenotype, including osteoporotic fractures as well as low BMD, both before and after menopause. A replication study with a Danish cohort of postmenopausal women was conducted to confirm the contribution of the three identified variants. In conclusion, we find that a region on the short arm of Chromosome 20 contains a gene or genes that appear to be a major risk factor for osteoporosis and osteoporotic fractures, and our evidence supports the view that BMP2 is at least one of these genes. |
format |
Article in Journal/Newspaper |
author |
Styrkarsdottir, Unnur Cazier, Jean-Baptiste Kong, Augustine Rolfsson, Ottar Larsen, Helene Bjarnadottir, Emma Johannsdottir, Vala D Sigurdardottir, Margret S Bagger, Yu Christiansen, Claus Reynisdottir, Inga Grant, Struan F A Jonasson, Kristjan Frigge, Michael L Gulcher, Jeffrey R Sigurdsson, Gunnar Stefansson, Kari |
author_facet |
Styrkarsdottir, Unnur Cazier, Jean-Baptiste Kong, Augustine Rolfsson, Ottar Larsen, Helene Bjarnadottir, Emma Johannsdottir, Vala D Sigurdardottir, Margret S Bagger, Yu Christiansen, Claus Reynisdottir, Inga Grant, Struan F A Jonasson, Kristjan Frigge, Michael L Gulcher, Jeffrey R Sigurdsson, Gunnar Stefansson, Kari |
author_sort |
Styrkarsdottir, Unnur |
title |
Linkage of osteoporosis to chromosome 20p12 and association to BMP2 |
title_short |
Linkage of osteoporosis to chromosome 20p12 and association to BMP2 |
title_full |
Linkage of osteoporosis to chromosome 20p12 and association to BMP2 |
title_fullStr |
Linkage of osteoporosis to chromosome 20p12 and association to BMP2 |
title_full_unstemmed |
Linkage of osteoporosis to chromosome 20p12 and association to BMP2 |
title_sort |
linkage of osteoporosis to chromosome 20p12 and association to bmp2 |
publisher |
Public Library of Science |
publishDate |
2007 |
url |
http://hdl.handle.net/2336/13860 https://doi.org/10.1371/journal.pbio.0000069 |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://dx.doi.org/10.1371/journal.pbio.0000069 PLoS Biol. 2003, 1(3):E69 1545-7885 14691541 doi:10.1371/journal.pbio.0000069 http://hdl.handle.net/2336/13860 PLoS biology |
op_doi |
https://doi.org/10.1371/journal.pbio.0000069 |
container_title |
PLoS Biology |
container_volume |
1 |
container_issue |
3 |
container_start_page |
e69 |
_version_ |
1766038610131288064 |