Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta

Dentinogenesis imperfecta Type II (DGI-II) is a condition inherited as an autosomal dominant trait and characterized by abnormal dentine structure affecting both the primary and secondary dentitions. The genetic etiology of the disease still remains unclear, suggesting a genetically heterogeneous background. The aim of this study is to manifest briefly DGI-II and to investigate the association between Bsm I, Taq I and Fok I polymorphisms of vitamin D receptor ( VDR ) gene and dentinogenesis imperfecta type II in a Turkish family by PCR-RFLP methodology. The affected mother and her two affected daughters were bb for Bsm I polymorphism, whereas her unaffected son and her husband were Bb for the same polymorphism. One of the affected children was tt, the rest of the family were Tt for Taq I polymorphism, and all of the enrolled subjects were FF for Fok I polymorphism. As a conclusion, Bsm I polymorphism bb seems to be associated with (DGI-II), but should be examined in larger numbers in order to be considered as a risk factor.