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A deletion polymorp...
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
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- Grundberg, E (författare)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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- Carling, T (författare)
- Uppsala universitet,Institutionen för kirurgiska vetenskaper
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- Brändström, H (författare)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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Huang, S (författare)
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- Ribom, E. L (författare)
- Uppsala universitet,Institutionen för kirurgiska vetenskaper,Ortopedi
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- Ljunggren, O (författare)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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- Mallmin, H (författare)
- Uppsala universitet,Institutionen för kirurgiska vetenskaper,Ortopedi
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- Kindmark, A (författare)
- Uppsala universitet,Institutionen för medicinska vetenskaper
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(creator_code:org_t)
- The Endocrine Society, 2004
- 2004
- Engelska.
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 89:12, s. 6173-6178
- Relaterad länk:
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http://www.ncbi.nlm....
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https://academic.oup...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Nyckelord
- 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
- MEDICINE
- MEDICIN
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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