Study of estrogen receptor alpha gene polymorphisms Xba i and Pvu II in postmenopausal osteoporosis patients

Study of Estrogen Receptor Alpha Gene Polymorphisms Xba I and Pvu II in Postmenopausal Osteoporosis Patients Osteoporosis is a multifactorial disease characterized by a decrease bone mineral density (BMD) and micro-architectural deterioration of bone structure. Although there are several environmental influences on BMD, a genetic contribution to the pathogenesis of osteoroposis has recently been recognized. The existence of many candidate genes which have effect on bone mass was reported. However, the effect of these genes on bone mass, the interaction among and between these genes and enviromental effects are not presently clear.In this study, the relationship between BMD values of lomber vertebra and femoral neck, ER? gene XbaI, PvuII polymorphisms and osteoporosis-related criteria in 107 postmenopausal women (34 normal, 73 osteoporotic) in terms of bone mineral density, was researched. The distribution of genotype and allele frequencies belonging to these polymorphisms in normal and osteoporotic postmenopausal women was also evaluated.According to our study results, there was no significant difference in terms of genotype and haplotype frequencies between osteoporotic and normal women. For osteoporic women who had ER? gene Xba I polymorphism, neck average BMD value of women with xx genotype was significantly higher than women with Xx genotype (p=0,05) (XX genotype has not been found). There was no significant difference between neck-lomber BMD and Pvu II polymorphism. In normal women minor allel was X (G nucleotide) (MAF=0,457) while in osteoporotic women minor allel was ?x? (A nucleotide) (MAF=0,467) in terms of Xba I polymorphism and in normal women minor allel was ?P? (C nucleotide) (MAF=0,485) while in osteoporotic women minor allel was ?p? (T nucleotide) (MAF=0,418) in terms of Pvu II polymorphism. Although there is no significant difference between patient and control genotypes for Xba I polymorphism, "x" allel associated with higher BMD values being lower in patients and than in controls is thought to be important. There was no significant difference between PP, Pp and pp genotypes within the control group, where pp genotyped patients had significantly lower family history of osteoporosis (p=0,037). In the patient group; within the Xxpp genotyped individuals, lumbar BMD values were found to be higher in patients who exposed to sun over 15 minutes per day, as compared to patients who had no sun exposure (p = 0.008) but there was no difference in the control group.None of the other criteria related to osteoporosis was associated with XbaI, Pvu II polymorphisms.Key Words: Osteoporosis, Estrogen Receptor Alpha Gene (ESR alpha), Xba I, Pvu II