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A deletion polymorphism in the RIZ gene, a female sex steroid hormone receptor coactivator, exhibits decreased response to estrogen in vitro and associates with low bone mineral density in young Swedish women
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
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2004 (English)In: Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, E-ISSN 1945-7197, Vol. 89, no 12, 6173-6178 p.Article in journal (Refereed) Published
Abstract [en]

Low bone mineral density (BMD) is a major risk factor for osteoporotic fracture, and the trait is under genetic control by a large number of genes. It is recognized that estrogen plays an important role in the maintenance of bone mass by binding to estrogen receptor a (ERa). RIZ1 has previously been shown to be a specific ERa coactivator and strongly enhances its function both in vivo and in vitro. We performed in vitro studies comparing the abilities of RIZ1 P704 polymorphic variants (homozygous presence, P704+; absence, P704-; heterozygosity P704+/- of a proline at position 704) to coactivate the ERa and also examined the polymorphism associated to BMD of 343 Swedish women, aged 20-39 yr. The expression vector containing P704- RIZ1 showed an impaired response in coactivating ERa in a ligand- and dose-dependent manner compared with P704+ RIZ (P < 0.0001). The genotype frequencies were 19% (P704+), 32% (P704-), and 49% (P704+/-) and were in Hardy-Weinberg equilibrium. BMD at the heel was higher in the P704+ genotype group than in the P704+/- group (P = 0.02), which was evident also after corrections for fat and lean mass (P = 0.03). We conclude that RIZ1 may be a new candidate gene for involvement in the variation seen in BMD.

Place, publisher, year, edition, pages
2004. Vol. 89, no 12, 6173-6178 p.
Keyword [en]
Adult, Bone Density/*genetics, Cohort Studies, DNA-Binding Proteins/*genetics, Estrogen Receptor alpha/*metabolism, Female, Gene Deletion, Genotype, Humans, Nuclear Proteins/*genetics, Polymorphism; Genetic, Random Allocation, Sweden, Transcription Factors/*genetics
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Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-14741DOI: 10.1210/jc.2004-0403PubMedID: 15579774OAI: oai:DiVA.org:uu-14741DiVA: diva2:42512
Available from: 2008-01-31 Created: 2008-01-31 Last updated: 2017-12-11Bibliographically approved

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Grundberg, ECarling, TBrändström, HRibom, E. LLjunggren, OMallmin, HKindmark, A

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