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Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone.

ABSTRACT: BACKGROUND: The gene encoding oestrogen receptor alpha (ESR1) appears to regulate bone mineral density (BMD) and other determinants of osteoporotic fracture risk. OBJECTIVE: To investigate the relation between common polymorphisms and haplotypes of the ESR1 gene and osteoporosis related phenotypes in a population based cohort of 3054 Scottish women. RESULTS: There was a significant association between a common haplotype "px", defined by the PvuII and XbaI restriction fragment length polymorphisms within intron 1 of the ESR1 gene, and femoral neck bone loss in postmenopausal women who had not received hormone replacement therapy (n = 945; p = 0.009). Annual rates of femoral neck bone loss were approximately 14% higher in subjects who carried one copy of px and 22% higher in those who carried two copies, compared with those who did not carry the px haplotype. The px haplotype was associated with lower femoral neck BMD in the postmenopausal women (p = 0.02), and with reduced calcaneal broadband ultrasound attenuation (BUA) values in the whole study population (p = 0.005). There was no association between a TA repeat polymorphism in the ESR1 promoter and any phenotype studied, though on long range haplotype analysis subjects with a smaller number of TA repeats who also carried the px haplotype had reduced BUA values. CONCLUSIONS: The ESR1px haplotype is associated with reduced hip BMD values and increased rates of femoral neck bone loss in postmenopausal women. An association with BUA may explain the fact that ESR1 intron 1 alleles predict osteoporotic fractures by a mechanism partly independent of differences in BMD.

SUBMITTER: Albagha OM

PROVIDER: S-EPMC1736016 | biostudies-other | 2005 Mar

REPOSITORIES: biostudies-other

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Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone.

Albagha O M E OM Pettersson U U Stewart A A McGuigan F E A FE MacDonald H M HM Reid D M DM Ralston S H SH

Journal of medical genetics 20050301 3

<h4>Background</h4>The gene encoding oestrogen receptor alpha (ESR1) appears to regulate bone mineral density (BMD) and other determinants of osteoporotic fracture risk.<h4>Objective</h4>To investigate the relation between common polymorphisms and haplotypes of the ESR1 gene and osteoporosis related phenotypes in a population based cohort of 3054 Scottish women.<h4>Results</h4>There was a significant association between a common haplotype "px", defined by the PvuII and XbaI restriction fragment ...[more]

PMID: 15744038

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Project description:BackgroundVarious mandibular indices have been developed to detect osteoporosis on panoramic radiographs. Quantitative ultrasound (QUS) is a low-cost, radiation-free method to assess bone status. The aim of this study was to compare mandibular morphometric analysis and QUS at the radius and proximal phalanx III finger.MethodsThe study involved 97 postmenopausal women, aged 48.5-71.5y (mean: 55.4). Mandibular morphometric analysis comprised: distance between upper and lower mandibular borders just behind the mental foramen (H), distance: mental foramen - inferior mandibular cortex (IM) and mandibular cortical width at the mental region (MCW). Then, ratios were calculated: MCW/IM = PMI (panoramic mandibular index), H/IM = MR (mandibular ratio). Mandibular cortical index (MCI) was used to classify the morphology of the mandibular cortex. Bone mineral status assessed using QUS at the radius and proximal phalanx III finger was compared to population mean apical bone mass (T-score). Linear regression analysis was used for correlations between continuous variables, Pearson's correlation coefficient r - for variables of normal distribution. Student's t-test was used to compare variables of normal distribution and for the latter - Mann-Whitney U-test. The level of significance was p < 0.05.ResultsMandibular height was 13.42-34.42 mm. The mean mandibular cortical width was 3.31 mm. Mean values of PMI and MR were 0.33 and 2.57, respectively. Higher mean value of Ad-SoS was found in the radius than in the III finger. Phalanx T-score values were lower than those of the radius. T-score of the radius was < - 1.0 in 22 patients, indicating osteopenia. Basing on phalanx T-score, osteopenia was found in 39 patients. Category C1 of Mandibular Cortical Index was found in 48 women, C2 - in 37 women and C3 - in 12 women. Higher scores of Mandibular Cortical Index were recorded in older women. MCI significantly correlated with the skeletal status (p = 0.01) as well as with H, MCW and MR. Phalanx T-score was not correlated to PMI, MR or MCW.Conclusions1. Mandibular Cortical Index can be used as a screening tool for detecting osteoporosis. 2. Quantitative ultrasound at the phalanx III constitutes a reliable way of assessing bone status.

Dataset Information

Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone.

Publications

Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone.

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