Osteoporosis and its Association with Estrogen Receptor- alpha Gene Polymorphism in a population of Iranian Women Referring to Loghman Hospital

Osteoporosis is a common disease in which the bones become prone to fracture as a result of loss of bone mineral density (BMD). The estrogen receptor (ER) gene is a candidate gene for os-teoporosis. This study assesses the relation be-tween estrogen receptor-α gene polymorphism and osteoporosis in a population of Iranian women. Materials & Methods: In the present study, we investigated 200 pre- and/or post-menopausal Iranian women, aged 35-80 years, stratified for BMD into normal and patient groups. The genomic DNA of both groups was amplified by PCR using specific primers and products were digested by restriction enzymes PvuII or XbaI to identify the related genotypes. The genotypes of intron 1 PvuII or XbaI poly-morphisms of the ER-α gene were detected and introduced so that the upper case and lower case letters of Pp (PvuII) and Xx (XbaI) signified the absence or presence of restriction sites in RFLP experiments. Results: Based on our results, no significant relationship was observed between BMD and intron 1 RFLPs of the estrogen recep-tor alpha gene. Three genotypes, Pp XX, pp XX and PP xx, were detected, all at a very low fre-quency in this population of Iranian women. Conclusion: To conclude no significant relation-ship was found between BMD and intron 1 RFLPs of the estrogen receptor alpha gene. Larg-er numbers of patients need to be investigated to ascertain and confirm whether ER-α genotypes are associated to the disease etiology and if any other factors are involved.