ABSTRACT
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 osteoporosis. This study assesses the relation between estrogen receptor- alpha gene polymorphism and osteoporosis in a population of Iranian women. 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- alpha 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. Based on our results, no significant relationship was observed between BMD and intron 1 RFLPs of the estrogen receptor alpha gene. Three genotypes, Pp XX, pp XX and PP xx, were detected, all at a very low frequency in this population of Iranian women. To conclude no significant relationship was found between BMD and intron 1 RFLPs of the estrogen receptor alpha gene. Larger numbers of patients need to be investigated to ascertain and confirm whether ER- alpha genotypes are associated to the disease etiology and if any other factors are involved