Peak bone mass, early menopausal bone loss and polymorphism at the oestrogen receptor gene

Keen, R W; Woodford-Richens, K. L.; Lanchbury, J. S.; Spector, TD

doi:10.1007/bf02499946

Cited by 7 publications

(6 citation statements)

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“…However, a Japanese study did not find associations between the genotypes and bone mass but found that the haplotype PPxx was associated with low bone mass (33) . Several other studies, (39,41,42,50) mainly including postmenopausal women, did not find any association between these intronic polymorphisms and bone mass. Only one study has examined the effect of these polymorphisms on fracture risk.…”

Section: Discussionmentioning

confidence: 94%

“…(32) However, a Japanese study did not find associations between the genotypes and bone mass but found that the haplotype PPxx was associated with low bone mass. (33) Several other studies, (39,41,42,50) mainly including postmenopausal women, did not find any…”

Section: Langdahl Et Almentioning

confidence: 86%

“…Alone or in combination, these polymorphisms have in some studies been shown to be associated with bone mass in men and women, postmenopausal bone loss, and response to hormone replacement therapy (HRT) (32–38) . However, other studies could not confirm these findings (39–42) …”

Section: Introductionmentioning

confidence: 99%

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A TA Repeat Polymorphism in the Estrogen Receptor Gene Is Associated with Osteoporotic Fractures but Polymorphisms in the First Exon and Intron Are Not

Langdahl

Løkke

Carstens

et al. 2000

Journal of Bone and Mineral Research

101

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Section: Discussionmentioning

confidence: 94%

Section: Langdahl Et Almentioning

confidence: 86%

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A TA Repeat Polymorphism in the Estrogen Receptor Gene Is Associated with Osteoporotic Fractures but Polymorphisms in the First Exon and Intron Are Not

Langdahl

Løkke

Carstens

et al. 2000

Journal of Bone and Mineral Research

101

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“…(13,14) Because bone mass and bone strength are complex phenotypes, their heritability is almost certainly polygenic. Thus, genetic variations of factors other than VDR involved in the pathways of regulating homeostasis have been investigated, and some of them, including the estrogen receptor, transforming growth factor ␤, and interleukin 6, have been reported to be associated with BMD in some, (15)(16)(17) but not all, (18) studies. Among these new candidate genes, that encoding the most important structural protein of bone matrix, type I collagen, has also been investigated.…”

Section: Introductionmentioning

confidence: 99%

Collagen Iα1 Sp1 Polymorphism, Bone Mass, and Bone Turnover in Healthy French Premenopausal Women: The OFELY Study

Garnero

Borel

Grant

et al. 1998

Journal of Bone and Mineral Research

118

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Bone mineral density (BMD) is under strong genetic control. Recent work has suggested that a polymorphism affecting an Sp1 binding site in the collagen I (COLI) A1 gene is associated with BMD and vertebral fracture in postmenopausal women. We analyzed this polymorphism in relation to BMD and bone turnover in 220 healthy premenopausal women aged 31-57 years. There were 61% SS homozygotes, 35% Ss heterozygotes, and 4% ss homozygotes, genotype frequencies similar to those previously reported in other Caucasian populations. Women in the three genotype groups were matched for age, body weight, physical activity, smoking habits, and oral contraceptive use, but height was greatest in the SS group and lowest in the ss group (p ‫؍‬ 0.03). Between-group comparisons by analysis of variance (ANOVA) showed that COLI A1 genotype was significantly associated with spine BMD (p ‫؍‬ 0.05), total body BMD (p ‫؍‬ 0.046), and total body bone mineral content (BMC) (p ‫؍‬ 0.02), but the differences between extreme genotypes were small (4, 5, and 10%, for spine BMD, total body BMD, and total body BMC, respectively). After adjustment for height, the differences between genotypes decreased and were no longer significant by ANOVA (p ‫؍‬ 0.08, 0.17, and 0.33 for spine BMD, total body BMD, and total body BMC). Furthermore, no significant difference between genotypes was observed for femoral neck, trochanter, Ward's triangle, or forearm BMD. COLI A1 genotype was associated with serum C-terminal extension propeptide of type I collagen (p ‫؍‬ 0.04), with lowest levels in ss individuals, but not with any other marker of bone formation (osteocalcin, alkaline phosphatase, and type I collagen N-terminal extension propeptide) or bone resorption (urinary excretion of type I collagen C and N telopeptide breakdown products). The COLI A1 Sp1 polymorphism is associated with height, peak total body BMD and BMC, and spine BMD. The genotype-specific differences account for only a small proportion of variance in BMD at these sites and are not significant after adjustment for height, suggesting that part of the effect on bone mass may be due to differences in body size. Our data support the view that COLI A1 may be a candidate gene for regulation of bone mass, but our results must be treated with caution, in view of the small number of ss individuals, and will require confirmation in larger studies. (J Bone Miner Res 1998;13:813-817)

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“…Furthermore, the effect of medications is not ideal; patients with PMOP need continued treatment for up to 10 years ( 9 ). It has been previously demonstrated that the peak bone mass and early menopausal bone loss are associated with the level of expression of estrogen-associated genes ( 10 ). Previous study has demonstrated that mutations in osteoclast-associated genes, including parathyroid hormone 1 receptor, colony stimulating factor 1 and low-density lipoprotein receptor-related protein 5 are associated with PMOP ( 11 ).…”

Section: Introductionmentioning

confidence: 99%

Investigation of candidate genes and mechanisms underlying postmenopausal osteoporosis using bioinformatics analysis

et al. 2017

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The present study aimed to determine candidate genes, chemicals and mechanisms underlying postmenopausal osteoporosis (PMOP). A gene expression profile (accession no. GSE68303), which included 12 tissue samples from ovariectomized mice (OVX group) and 11 normal tissue samples from sham surgery mice (control group), was downloaded from the Gene Expression Omnibus database. The identification of differentially expressed genes (DEGs), and Gene Ontology functional enrichment and Kyoto Encyclopedia of Genes and Genomes pathway analyses, was performed, followed by an investigation of protein-protein interactions (PPI), PPI modules, transcription factors (TFs) and chemicals. A total of 784 upregulated and 729 downregulated DEGs between the two groups were identified. Furthermore, 2 upregulated modules and 6 downregulated modules were determined. The upregulated DEGs in modules were enriched in ‘sensory perception of smell’ function and ‘olfactory transduction’ pathway, and a number of genes belonging to the olfactory receptor (OLFR) family were identified in upregulated modules. The downregulated DEGs in modules were enriched in ‘DNA replication initiation’ function and ‘cell cycle’ pathway. A total of 8 TFs, including SP1 TF (SP1) and protein C-ets-1 (ETS1), were associated with PMOP. Furthermore, estradiol and resveratrol were identified as key chemicals in the chemical-gene interaction network. Therefore, TFs, including SP1 and ETS1, in addition to members of the OLFR gene family, may be employed as novel targets for treatment of PMOP. Furthermore, functions including ‘sensory perception of smell’ and ‘replication initiation’, and ‘olfactory transduction’ and ‘cell cycle’ pathways, may serve roles in PMOP. In addition, based on the chemical-gene interaction network, estradiol and resveratrol may also be considered for the treatment PMOP.

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Peak bone mass, early menopausal bone loss and polymorphism at the oestrogen receptor gene

Cited by 7 publications

References 0 publications

A TA Repeat Polymorphism in the Estrogen Receptor Gene Is Associated with Osteoporotic Fractures but Polymorphisms in the First Exon and Intron Are Not

A TA Repeat Polymorphism in the Estrogen Receptor Gene Is Associated with Osteoporotic Fractures but Polymorphisms in the First Exon and Intron Are Not

Collagen Iα1 Sp1 Polymorphism, Bone Mass, and Bone Turnover in Healthy French Premenopausal Women: The OFELY Study

Investigation of candidate genes and mechanisms underlying postmenopausal osteoporosis using bioinformatics analysis

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