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