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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.

https://arctichealth.org/en/permalink/ahliterature177097
Source
J Clin Endocrinol Metab. 2004 Dec;89(12):6173-8
Publication Type
Article
Date
Dec-2004
Author
E. Grundberg
T. Carling
H. Brändström
S. Huang
E L Ribom
O. Ljunggren
H. Mallmin
A. Kindmark
Author Affiliation
Department of Medical Sciences, Uppsala University, SE-751 85 Uppsala, Sweden. elin.grundberg@medsci.uu.se
Source
J Clin Endocrinol Metab. 2004 Dec;89(12):6173-8
Date
Dec-2004
Language
English
Publication Type
Article
Keywords
Adult
Bone Density - genetics
Cohort Studies
DNA-Binding Proteins - genetics
Estrogen Receptor alpha - metabolism
Female
Gene Deletion
Genotype
Histone-Lysine N-Methyltransferase
Humans
Nuclear Proteins - genetics
Polymorphism, Genetic
Random Allocation
Sweden
Transcription Factors - genetics
Abstract
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 alpha (ERalpha). RIZ1 has previously been shown to be a specific ERalpha 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 ERalpha 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 ERalpha in a ligand- and dose-dependent manner compared with P704+ RIZ (P
PubMed ID
15579774 View in PubMed
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A poly adenosine repeat in the human vitamin D receptor gene is associated with bone mineral density in young Swedish women.

https://arctichealth.org/en/permalink/ahliterature18216
Source
Calcif Tissue Int. 2003 Nov;73(5):455-62
Publication Type
Article
Date
Nov-2003
Author
E. Grundberg
H. Brändström
E L Ribom
O. Ljunggren
A. Kindmark
H. Mallmin
Author Affiliation
Department of Medical Sciences, Uppsala University, SE-751 85 Uppsala, Sweden. Elin.Grundberg@medsci.uu.se
Source
Calcif Tissue Int. 2003 Nov;73(5):455-62
Date
Nov-2003
Language
English
Publication Type
Article
Keywords
Adenosine - genetics
Adult
Body Composition - physiology
Bone Density - genetics
Calcaneus - ultrasonography
Cohort Studies
DNA Mutational Analysis
Densitometry, X-Ray
Deoxyribonucleases, Type II Site-Specific - genetics
Female
Genotype
Humans
Linkage (Genetics)
Microsatellite Repeats - genetics
Polymers
Polymorphism, Single Nucleotide - genetics
Premenopause
Receptors, Calcitriol - genetics
Research Support, Non-U.S. Gov't
Sweden
Abstract
Peak bone mass (PBM) and subsequent bone loss are important risk factors for development of osteoporosis later in life, and twin studies have reported strong genetic influence on PBM. The genetic factor influencing PBM is polygenetic, and many genes most likely exert relatively small effects on bone mass. The poly adenosine (A) microsatellite in the 3' untranslated region (UTR) of the VDR gene has been associated with both prostate and breast cancer risk but little is known about the effect of bone mineral density (BMD). In this report the poly A microsatellite and the linked BsmI SNP have been investigated in a population-based cohort of 343 Swedish women, aged 20-39. BMD was measured by dual x-ray absorptiometry at the spine, proximal femur, total body and heel and by quantitative ultrasound at the heel. Correlations were found between VDR genotypes and BMD at lumbar spine L2-L4, (ss versus LL, P = 0.03 and BB versus bb, P = 0.02, respectively), with a similar pattern concerning total hip (ss versus LL, P = 0.12 and BB versus bb, P = 0.16 respectively). After corrections for age, height, fat and lean mass, the VDR BsmI genotype was still associated to BMD at the lumbar spine (BB versus bb, P = 0.03). The polymorphisms were in linkage disequilibrium (Chi-square = 566, P
PubMed ID
12958689 View in PubMed
Less detail