Original Article

Clinical Rheumatology

, Volume 29, Issue 11, pp 1285-1293

Evaluation of the effects of vitamin D receptor and estrogen receptor 1 gene polymorphisms on bone mineral density in postmenopausal women

  • Mine Durusu TanrioverAffiliated withDepartment of Internal Medicine, Section of General Internal Medicine, Hacettepe University Faculty of Medicine Email author 
  • , Gamze Bora TatarAffiliated withDepartment of Medical Biology, Hacettepe University Faculty of Medicine
  • , Tenzile Deniz UluturkAffiliated withDepartment of Medical Biology, Hacettepe University Faculty of Medicine
  • , Didem Dayangac ErdenAffiliated withDepartment of Medical Biology, Hacettepe University Faculty of Medicine
  • , Altug TanrioverAffiliated withDepartment of Orthopedics and Traumatology, Gazi Mustafa Kemal Public Hospital
  • , Alpaslan KilicarslanAffiliated withDepartment of Internal Medicine, Section of General Internal Medicine, Hacettepe University Faculty of Medicine
  • , S. Gul OzAffiliated withDepartment of Internal Medicine, Section of General Internal Medicine, Hacettepe University Faculty of Medicine
  • , Hayat Erdem YurterAffiliated withDepartment of Medical Biology, Hacettepe University Faculty of Medicine
  • , Tumay SozenAffiliated withDepartment of Internal Medicine, Section of General Internal Medicine, Hacettepe University Faculty of Medicine
    • , Gulay Sain GuvenAffiliated withDepartment of Internal Medicine, Section of General Internal Medicine, Hacettepe University Faculty of Medicine

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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.

Keywords

Bone mineral density Estrogen receptor Genetic Polymorphism Postmenopausal osteoporosis Vitamin D receptor