THE ROLE OF BSMI AND APAI POLYMORPHISMS OF THE VITAMIN D RECEPTOR GENE IN THE DEVELOPMENT OF LOW BONE MINERAL DENSITY IN ADULTS. LITERATURE REVIEW

Abstract

Background. Osteoporosis is a systemic skeletal disease characterized by a decrease in bone mineral density (BMD), 
which leads to an increased risk of fractures and greater bone fragility [1]. The global prevalence of osteoporosis is estimated 
to be 18.3%. Gender and genetics are non-modifiable risk factors for osteoporosis, whereas other factors (modifiable ones) 
can be influenced, such as diet, physical activity, and lifestyle. Vitamin D plays a crucial role in bone metabolism and is 
essential for the prevention of osteoporosis (OP). In recent years, numerous studies have been conducted to explore the 
correlation between VDR gene variants and osteoporosis risk, suggesting the presence of ethnic differences in the genetic 
association with osteoporosis. However, there is still no definitive evidence confirming their impact in the studies conducted 
so far. 
The aim was of this review is to examine the available literature on the role of vitamin D and the association of BsmI and 
ApaI polymorphisms in the development of low mineral density.  
Search Strategy: A systematic search was conducted in the electronic databases PubMed and Google Scholar using 
the following keywords: “osteoporosis,” “BsmI,” “ApaI,” “VDR gene,” “bone mineral density, and “vitamin D.” The search was 
limited to English-language studies published between 2014 and 2024. A total of 24 sources were reviewed. The article 
selection for this review was conducted by the authors, who identified relevant studies and excluded those that did not meet 
the inclusion criteria.  
Conclusion. Although some studies on various populations have identified an association between several VDR gene 
polymorphisms and bone mineral density (BMD), many questions in this area remain unresolved. Research on VDR gene 
polymorphisms has shown that their impact on low BMD can yield different results across populations.