Lack of Association Between Estrogen Receptor-Alpha Single-Nucleotide Polymorphism (Codon 594 G-->A) and Postmenopausal Osteoporosis: A Pilot Study
Background: Recent studies have suggested that the estrogen receptor alpha (ERα) gene is implicated in reduced bone mineral density (BMD).
Objective: In the present study, we investigated the relationship between genetic polymorphism in ΕRα 2014G-->A (T594T) (codon 594 G-->A) and osteoporosis in postmenopausal women.
Methods: A total of 59 postmenopausal women were included in the study (21 normal, 24 osteoporotic, 14 osteopenic). The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to identify the ΕRα 2014G->A polymorphism.
Results: The three groups were found to be in genetic equilibrium. Also, there were no allele (p=0.578) and/or genotype frequencies (p=0.59) among the groups, i.e. the three groups could be treated as a genetically uniform population. As expected, normal women exhibited the highest BMD values (1.11 g/cm2) followed by the osteopenic (0.91 g/cm2) and the osteoporotic women (0.73 g/cm2). There was significant difference (p<0.05) in age only between the osteoporotic group (mean age 48.7 years) and either the normal (mean age 46 years) or the osteopenic group (mean age 45 years). No allele and/or genotype effect on BMD or age was detected.Conclusion: Our results support the lack of association between ERα codon 594 and BMD in postmenopausal women, since we found no allele and/or genotype effect on BMD or age. Further studies in a larger sample of postmenopausal women are needed to confirm our results.
a. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
b. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
c. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).