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Replication of Previous Genome-wide Association Studies of Bone Mineral Density in Premenopausal American Women

Bone mineral density (BMD) achieved during young adulthood (peak BMD) is one of the major determinants of osteoporotic fracture in later life. Genetic variants associated with BMD have been identified by three recent genome-wide association studies. The most significant single-nucleotide polymorphis...

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Autores principales: Ichikawa, Shoji, Koller, Daniel L, Padgett, Leah R, Lai, Dongbing, Hui, Siu L, Peacock, Munro, Foroud, Tatiana, Econs, Michael J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3153352/
https://www.ncbi.nlm.nih.gov/pubmed/20200978
http://dx.doi.org/10.1002/jbmr.62
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author Ichikawa, Shoji
Koller, Daniel L
Padgett, Leah R
Lai, Dongbing
Hui, Siu L
Peacock, Munro
Foroud, Tatiana
Econs, Michael J
author_facet Ichikawa, Shoji
Koller, Daniel L
Padgett, Leah R
Lai, Dongbing
Hui, Siu L
Peacock, Munro
Foroud, Tatiana
Econs, Michael J
author_sort Ichikawa, Shoji
collection PubMed
description Bone mineral density (BMD) achieved during young adulthood (peak BMD) is one of the major determinants of osteoporotic fracture in later life. Genetic variants associated with BMD have been identified by three recent genome-wide association studies. The most significant single-nucleotide polymorphisms (SNPs) from these studies were genotyped to test whether they were associated with peak BMD in premenopausal American women. Femoral neck and lumbar spine BMD were determined by dual-energy X-ray absorptiometry in two groups of premenopausal women: 1524 white women and 512 black women. In premenopausal white women, two SNPs in the C6orf97/ESR1 region were significantly associated with BMD (p < 4.8 × 10(−4)), with suggestive evidence for CTNNBL1 and LRP5 (p < .01). Evidence of association with one of the two SNPs in the C6orf97/ESR1 region also was observed in premenopausal black women. Furthermore, SNPs in SP7 and a chromosome 4 intergenic region showed suggestive association with BMD in black women. Detailed analyses of additional SNPs in the C6orf97/ESR1 region revealed multiple genomic blocks independently associated with femoral neck and lumbar spine BMD. Findings in the three published genome-wide association studies were replicated in independent samples of premenopausal American women, suggesting that genetic variants in these genes or regions contribute to peak BMD in healthy women in various populations. © 2010 American Society for Bone and Mineral Research.
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spelling pubmed-31533522011-08-19 Replication of Previous Genome-wide Association Studies of Bone Mineral Density in Premenopausal American Women Ichikawa, Shoji Koller, Daniel L Padgett, Leah R Lai, Dongbing Hui, Siu L Peacock, Munro Foroud, Tatiana Econs, Michael J J Bone Miner Res Original Article Bone mineral density (BMD) achieved during young adulthood (peak BMD) is one of the major determinants of osteoporotic fracture in later life. Genetic variants associated with BMD have been identified by three recent genome-wide association studies. The most significant single-nucleotide polymorphisms (SNPs) from these studies were genotyped to test whether they were associated with peak BMD in premenopausal American women. Femoral neck and lumbar spine BMD were determined by dual-energy X-ray absorptiometry in two groups of premenopausal women: 1524 white women and 512 black women. In premenopausal white women, two SNPs in the C6orf97/ESR1 region were significantly associated with BMD (p < 4.8 × 10(−4)), with suggestive evidence for CTNNBL1 and LRP5 (p < .01). Evidence of association with one of the two SNPs in the C6orf97/ESR1 region also was observed in premenopausal black women. Furthermore, SNPs in SP7 and a chromosome 4 intergenic region showed suggestive association with BMD in black women. Detailed analyses of additional SNPs in the C6orf97/ESR1 region revealed multiple genomic blocks independently associated with femoral neck and lumbar spine BMD. Findings in the three published genome-wide association studies were replicated in independent samples of premenopausal American women, suggesting that genetic variants in these genes or regions contribute to peak BMD in healthy women in various populations. © 2010 American Society for Bone and Mineral Research. Wiley Subscription Services, Inc., A Wiley Company 2010-08 2010-02-08 /pmc/articles/PMC3153352/ /pubmed/20200978 http://dx.doi.org/10.1002/jbmr.62 Text en Copyright © 2010 American Society for Bone and Mineral Research http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
spellingShingle Original Article
Ichikawa, Shoji
Koller, Daniel L
Padgett, Leah R
Lai, Dongbing
Hui, Siu L
Peacock, Munro
Foroud, Tatiana
Econs, Michael J
Replication of Previous Genome-wide Association Studies of Bone Mineral Density in Premenopausal American Women
title Replication of Previous Genome-wide Association Studies of Bone Mineral Density in Premenopausal American Women
title_full Replication of Previous Genome-wide Association Studies of Bone Mineral Density in Premenopausal American Women
title_fullStr Replication of Previous Genome-wide Association Studies of Bone Mineral Density in Premenopausal American Women
title_full_unstemmed Replication of Previous Genome-wide Association Studies of Bone Mineral Density in Premenopausal American Women
title_short Replication of Previous Genome-wide Association Studies of Bone Mineral Density in Premenopausal American Women
title_sort replication of previous genome-wide association studies of bone mineral density in premenopausal american women
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3153352/
https://www.ncbi.nlm.nih.gov/pubmed/20200978
http://dx.doi.org/10.1002/jbmr.62
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