Linkage of Osteoporosis to Chromosome 20p12 and Association to BMP2
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 famil...
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ftciteseerx:oai:CiteSeerX.psu:10.1.1.284.5436 2023-05-15T16:50:55+02:00 Linkage of Osteoporosis to Chromosome 20p12 and Association to BMP2 Unnur Styrkarsdottir Jean-baptiste Cazier Augustine Kong Ottar Rolfsson Helene Larsen Emma Bjarnadottir Vala D. Johannsdottir Margret S. Sigurdardottir Yu Bagger Claus Christiansen Inga Reynisdottir Struan F. A. Grant Kristjan Jonasson Michael L. Frigge Jeffrey R. Gulcher Gunnar Sigurdsson Kari Stefansson Plos Biology The Pennsylvania State University CiteSeerX Archives 2003 application/zip http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.284.5436 en eng http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.284.5436 Metadata may be used without restrictions as long as the oai identifier remains attached to it. ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/20/35/PLoS_Biol_2003_Dec_3_1(3)_e69.tar.gz text 2003 ftciteseerx 2016-01-07T21:13:42Z 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 allelesharing LOD, 5.10; p value, 6.3 3 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. Text Iceland Unknown |
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English |
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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 allelesharing LOD, 5.10; p value, 6.3 3 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. |
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The Pennsylvania State University CiteSeerX Archives |
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Unnur Styrkarsdottir Jean-baptiste Cazier Augustine Kong Ottar Rolfsson Helene Larsen Emma Bjarnadottir Vala D. Johannsdottir Margret S. Sigurdardottir Yu Bagger Claus Christiansen Inga Reynisdottir Struan F. A. Grant Kristjan Jonasson Michael L. Frigge Jeffrey R. Gulcher Gunnar Sigurdsson Kari Stefansson Plos Biology |
spellingShingle |
Unnur Styrkarsdottir Jean-baptiste Cazier Augustine Kong Ottar Rolfsson Helene Larsen Emma Bjarnadottir Vala D. Johannsdottir Margret S. Sigurdardottir Yu Bagger Claus Christiansen Inga Reynisdottir Struan F. A. Grant Kristjan Jonasson Michael L. Frigge Jeffrey R. Gulcher Gunnar Sigurdsson Kari Stefansson Plos Biology Linkage of Osteoporosis to Chromosome 20p12 and Association to BMP2 |
author_facet |
Unnur Styrkarsdottir Jean-baptiste Cazier Augustine Kong Ottar Rolfsson Helene Larsen Emma Bjarnadottir Vala D. Johannsdottir Margret S. Sigurdardottir Yu Bagger Claus Christiansen Inga Reynisdottir Struan F. A. Grant Kristjan Jonasson Michael L. Frigge Jeffrey R. Gulcher Gunnar Sigurdsson Kari Stefansson Plos Biology |
author_sort |
Unnur Styrkarsdottir |
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 |
publishDate |
2003 |
url |
http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.284.5436 |
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Iceland |
genre_facet |
Iceland |
op_source |
ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/20/35/PLoS_Biol_2003_Dec_3_1(3)_e69.tar.gz |
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http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.284.5436 |
op_rights |
Metadata may be used without restrictions as long as the oai identifier remains attached to it. |
_version_ |
1766041037718945792 |