title: Evaluation of the effects of vitamin D receptor and estrogen receptor 1 gene polymorphisms on bone mineral density in postmenopausal women.
abstract: The aim of this study is to evaluate the effects of estrogen receptor 1 (ESR1) and vitamin D receptor (VDR) gene polymorphisms on bone mineral density (BMD) in a group of previously untreated osteoporotic women. Effects of demographic, environmental, and hormonal factors were also evaluated in this context. Fifty women who did not have a prior diagnosis or treatment of osteoporosis were compared with 50 nonosteoporotic postmenopausal women. Demographic and morphometric characteristics, medical history, dietary habits, exercise history, and sunlight exposure were recorded. The diagnosis of osteoporosis was made with regard to BMD measurements with DEXA. Blood samples were obtained for serum biochemistry, bone turnover markers, and VDR and ESR1 gene polymorphism analysis. Polymorphic sites of VDR and ESR1 genes were amplified by polymerase chain reaction and examined using restriction fragment length polymorphism. Bb genotype was significantly higher in the osteoporotic group when compared to controls (p=0.022). Each 1 U decrease in the body mass index (BMI) increased the risk of osteoporosis by 8% independent of the genotype. We could not observe a significant effect of ESR1 polymorphism on BMD or osteoporosis risk. The interaction of ApaI and BsmI genotypes were found to be significant (p=0.041) and the AaBb genotype, when corrected for BMI, was shown to increase the risk of osteoporosis five times (p=0.005). However, the results demonstrated insignificant p values when correction for multiple testing was performed with the Bonferroni method in the logistic regression model. A predominance of Bb genotype of the VDR gene was evident in this group of postmenopausal Turkish women. Moreover, the combined genotype AaBb conferred a five times increased risk for osteoporosis when corrected for clinical variables.
authors.affiliation: Department of Internal Medicine, Section of General Internal Medicine, Hacettepe University Faculty of Medicine, and Department of Orthopedics and Traumatology, Gazi Mustafa Kemal Public Hospital, 06100, Sihhiye, Ankara, Turkey. mdurusu@hacettepe.edu.tr
authors.forename: Mine
authors.initials: M
authors.lastname: Durusu Tanriover
authors.forename: Gamze
authors.initials: G
authors.lastname: Bora Tatar
authors.forename: Tenzile Deniz
authors.initials: TD
authors.lastname: Uluturk
authors.forename: Didem
authors.initials: D
authors.lastname: Dayangac Erden
authors.forename: Altug
authors.initials: A
authors.lastname: Tanriover
authors.forename: Alpaslan
authors.initials: A
authors.lastname: Kilicarslan
authors.forename: S Gul
authors.initials: SG
authors.lastname: Oz
authors.forename: Hayat
authors.initials: H
authors.lastname: Erdem Yurter
authors.forename: Tumay
authors.initials: T
authors.lastname: Sozen
authors.forename: Gulay
authors.initials: G
authors.lastname: Sain Guven
mesh_terms: D000368:Aged; D000483:Alleles; D015992:Body Mass Index; D015519:Bone Density; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000175:diagnosis / Q000235:genetics*; D011110:Polymorphism, Genetic; D017698:Postmenopause; D018167:Receptors, Calcitriol / Q000235:genetics*; D012306:Risk
chemical_list: D047628:Estrogen Receptor alpha; D018167:Receptors, Calcitriol