Association of Polymorphisms of the Estrogen Receptor α Gene With Bone Mineral Density and Fracture Risk in Women: A Meta-Analysis

Abstract

The contribution of genetic polymorphisms to bone mineral density (BMD) and fracture risk in women is a controversial topic. We evaluated the effect of the XbaI and PvuII polymorphisms of the estrogen receptor ␣ to BMD and fracture risk in a meta-analysis, including published data and additional information from investigators. Five thousand eight hundred thirty-four women from 30 study groups were analyzed with fixed and random effects models. The PvuII polymorphism was not associated with BMD at any skeletal site examined and 95% CIs exclude effects over 0.015 g/cm 2 for both the femoral neck and the lumbar spine.

Estrogen receptor polymorphisms and incident dementia: The prospective 3C study

“…There is also the possibility of population stratification which we could not control for because French law prohibits the collection of data related to ethnicity. However, genotype frequencies for participants with incident dementia and nondemented participants were similar to those observed previously in white Europeans [51]. The results presented here were not adjusted for multiple comparisons and they would fail to remain significant after Bonferroni correction.…”

Estrogen receptor gene variants are associated with anxiety disorders in older women

“…Study limitations include the possibility of population stratification which we could not control for because French law prohibits the collection of ethnic-related data. Genotype frequencies for both anxious and nonanxious participants were however, similar to those observed in Caucasian populations (Ioannidis et al, 2002;Rexrode et al, 2007). Duplicate genotyping was not performed, however the genotyping system used does have a very low error rate (<0.3%).…”

“…The ESR1 rs2234693 and rs9340799 appear to be functionally significant, with the C and G alleles respectively being associated with higher gene expression (Maruyama et al, 2000;Alonso et al, 2011), and more favourable estrogen-dependent outcomes (i.e. bone mineral density (Ioannidis et al, 2002)). This could suggest that estrogen plays a important protective role against the risk of phobia in later life.…”

Proximal hip geometry is linked to several chromosomal regions: Genome-wide linkage results from the Framingham Osteoporosis Study

“…Thus, aromatase (CYP19) is on 15q21, where femoral neck length and shaft cross-section strength indices yielded an indication of suggestive linkage. This gene is known to be involved in height regulation [46] and bone maintenance [47][48][49], although its contribution to the geometric properties is less evident [50][51][52]. Epidermal growth factor (EGF) resides on 4q25, in close proximity to our linkages for NN_Z.…”