Article

Molecular Biology Reports

, Volume 40, Issue 1, pp 383-390

Open Access This content is freely available online to anyone, anywhere at any time.

Vitamin D receptor gene polymorphisms, bone mineral density and fractures in postmenopausal women with osteoporosis

  • Wanda Horst-SikorskaAffiliated withDepartment of Family Medicine, Poznań University of Medical Sciences
  • , Joanna DytfeldAffiliated withDepartment of Family Medicine, Poznań University of Medical Sciences Email author 
  • , Anna WawrzyniakAffiliated withDepartment of Family Medicine, Poznań University of Medical Sciences
  • , Michalina MarcinkowskaAffiliated withDepartment of Family Medicine, Poznań University of Medical Sciences
  • , Michał MichalakAffiliated withDepartment of Computer Science and Statistics, Poznań University of Medical Sciences
  • , Edward FranekAffiliated withDepartment of Internal Medicine, Endocrinology and Diabetology, Central Clinical Hospital MSWiADepartment of Human Epigenetics, Medical Research Center, Polish Academy of Sciences
  • , Luiza NapiórkowskaAffiliated withDepartment of Internal Medicine, Endocrinology and Diabetology, Central Clinical Hospital MSWiA
  • , Natalia DrwęskaAffiliated withDepartment of Biochemistry and Biotechnology, Poznan University of Life Sciences
  • , Ryszard SłomskiAffiliated withDepartment of Biochemistry and Biotechnology, Poznan University of Life Sciences

Abstract

The goal of the study was to investigate the possibility of an association between polymorphisms and single alleles of BsmI, ApaI, TaqI of the vitamin D receptor (VDR) gene with bone mineral density (BMD) and prevalence of vertebral/non-vertebral fractures in a group of postmenopausal Polish women with osteoporosis. The study group comprised of 501 postmenopausal females with osteoporosis (mean age 66.4 ± 8.9), who were diagnosed on the basis of either the WHO criteria or self-reported history of low-energy fractures. The three polymorphisms were determined by PCR (polymerase chain reaction) and RFLP (restriction fragment length polymorphism). BMD at the lumbar spine and femoral neck was assessed by dual energy X-ray absorptiometry (DXA). 285 fractures were reported in the whole group (168 vertebral and 117 non-vertebral). Incidence of non-vertebral fractures was significantly higher in the carriers of single alleles a of ApaI, b of BsmI and T of TaqI VDR gene polymorphisms (p = 0.021, 0.032, 0.020, respectively). No significant associations between allelic variants of the studied polymorphisms and BMD or fracture incidence were found. (1).The presence of single alleles a,b and T of ApaI, BsmI, TaqI VDR gene polymorphisms respectively, might serve as an indicator of non-vertebral fractures. (2). Lack of association between the VDR gene polymorphisms and BMD suggests that VDR contributes to low-energy fractures also through other ways.

Keywords

Osteoporosis Osteoporotic fractures Postmenopausal Vitamin D receptor VDR gene polymorphism