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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Main Authors:	Ichikawa, Shoji, Koller, Daniel L, Padgett, Leah R, Lai, Dongbing, Hui, Siu L, Peacock, Munro, Foroud, Tatiana, Econs, Michael J
Format:	Online
Language:	English
Published:	Wiley Subscription Services, Inc., A Wiley Company 2010
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3153352/

id	pubmed-3153352
recordtype	oai_dc
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 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.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Ichikawa, Shoji Koller, Daniel L Padgett, Leah R Lai, Dongbing Hui, Siu L Peacock, Munro Foroud, Tatiana Econs, Michael J
spellingShingle	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
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
title	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_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_sort	replication of previous genome-wide association studies of bone mineral density in premenopausal american women
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.
publisher	Wiley Subscription Services, Inc., A Wiley Company
publishDate	2010
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3153352/
_version_	1611470122969464832

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

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