ORIGINAL ARTICLE

Journal of Bone and Mineral Metabolism

, Volume 25, Issue 5, pp 310-319

Association analysis of the polymorphisms of the VDR gene with bone mineral density and the occurrence of fractures

  • Wanda Horst-SikorskaAffiliated withDepartment of Family Medicine, University of Medical Sciences
  • , Robert KalakAffiliated withDepartment of Biochemistry and Biotechnology, Agricultural UniversityInstitute of Human Genetics, Polish Academy of Sciences Email author 
  • , Anna WawrzyniakAffiliated withDepartment of Family Medicine, University of Medical Sciences
  • , Michalina MarcinkowskaAffiliated withDepartment of Family Medicine, University of Medical Sciences
  • , Liliana Celczynska-BajewAffiliated withDepartment of Family Medicine, University of Medical Sciences
  • , Ryszard SlomskiAffiliated withInstitute of Human Genetics, Polish Academy of Sciences

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Abstract

Associations of the FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor (VDR) gene with the bone mineral density (BMD) of the lumbar part of the spinal column (BMD LS) and the neck of the femur (BMD FN), and with the occurrence of fractures, were studied using the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis on DNA isolated from peripheral blood of 239 women and 40 men from the region of western Poland. Three polymorphisms of the 3′ end of the VDR gene (BsmI, ApaI, TaqI) indicated a strong linkage disequilibrium. Association analysis of the VDR gene FokI polymorphism with BMD LS showed a dose effect of allele f. The association of the bAT haplotype of the BsmI, ApaI, and TaqI polymorphisms of the VDR gene with BMD FN was statistically significant. The association of the ApaI polymorphism with the occurrence of fractures was observed. Associations were also observed between the occurrence of fractures and the baT haplotypes of the VDR gene.

Key words

osteoporosis vitamin D receptor (VDR) gene association haplotype bone mineral density