骨科肿瘤学杂志

抽象的

VDR Gene and Bone Mass

Massimo Piracci, Eisa Omer El Hag Omar, Chirita Bogdana Cristina, and Antonino de Lorenzo Direttore

Abstract
Background: In recent years, the relevance of vitamin D receptor (VDR) gene restriction fragment length polymorphisms and BMI has been investigated by a great number of studies. It has been hypothesized that VDR polymorphisms may influence the bone mass. However, studies investigating the associations between specific VDR polymorphisms and bone mass often show controversial results. We have now performed a systematic review of the literature to analyse the relevance of VDR polymorphisms for bone mass.

Materials and methods: An analysis of studies evaluating the association between vitamin D receptor gene polymorphisms Fok1, Bsm1, Taq1, Apa1, and Cdx2, poly (A) and Bgl1 as well as some haplotype combination has been performed. Data were extracted from PubMed using the key words VDR polymorphism in combination with bone mass.

Results: This analysis was performed with the intent of giving an up-to-date overview of all data concerning the relevance of VDR polymorphisms for bone mass. Obviously, at present it is still not possible to make any definitive statements about the importance of the VDR genotype for bone mass. It seems probable that interactions with other factors such as calcium and vitamin D intake, 25(OH)D plasma levels and others gene play a decisive role in BMI occurrence and should not be underestimated. Other risk factors such as obesity, smoking status, alcohol and others are also frequently mentioned as being more or less important for BMI depending on the VDR genotype.

Conclusion: The determination of the VDR is hardly usable test from the point of view of clinical practice. The association between VDR and bone mass is relatively small overall. To date, however, the role played by the VDR gene polymorphisms on bone mass has not been defined with precision and requires a further confirmation in larger population groups, better characterized and different from ethnic point of view. Probably other and environmental factors involved in determining bone mass have yet to be identified.