steoporosis is a common disease inwhich the bones become prone to fractureas a result of loss of bone mineraldensity (BMD). The estrogen receptor(ER) gene is a candidate gene for osteoporosis.This study assesses the relation betweenestrogen receptor- α gene polymorphismand osteoporosis in a population of Iranianwomen. Materials & Methods: In the presentstudy, we investigated 200 pre- and/or postmenopausalIranian women, aged 35-80 years,stratified for BMD into normal and patientgroups. The genomic DNA of both groups wasamplified by PCR using specific primers andproducts were digested by restriction enzymesPvuII or XbaI to identify the related genotypes.The genotypes of intron 1 PvuII or XbaI polymorphismsof the ER- α gene were detected andintroduced so that the upper case and lower caseletters of Pp (PvuII) and Xx (XbaI) signified theabsence or presence of restriction sites in RFLPexperiments. Results: Based on our results, nosignificant relationship was observed betweenBMD and intron 1 RFLPs of the estrogen receptoralpha gene. Three genotypes, Pp XX, pp XXand PP xx, were detected, all at a very low frequencyin this population of Iranian women.Conclusion: To conclude no significant relationshipwas found between BMD and intron 1RFLPs of the estrogen receptor alpha gene. Largernumbers of patients need to be investigated toascertain and confirm whether ER- α genotypesare associated to the disease etiology and if anyother factors are involved.
