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. 2024 Mar 4;11(1):69-75.
doi: 10.1055/s-0044-1779040. eCollection 2024 Jan.

The Relationship between VDR Gene Polymorphisms Bsm1 and Apa1 with Breast Cancer Risk

Hengameh Mozaffarizadeh  1 , Fariborz Mokarian  2 , Mansoor Salehi  1 , Seyyed Mohammad Reza Hakimian  3 , Elham Moazam  3 , Amirmohammad Amoozadehsamakoosh  4 , Majid Hosseinzadeh  1 , Mahdieh Behnam  1 , Mohaddeseh Behjati  5 , Alma Naseri  6 , Marzieh Lotfi  7 , Fatemeh Tohidi  8   9
Affiliations

The Relationship between VDR Gene Polymorphisms Bsm1 and Apa1 with Breast Cancer Risk

Hengameh Mozaffarizadeh et al. Glob Med Genet. .

Abstract

Background In addition to its multifaceted physiological functions, vitamin D is recognized for its protective role against cancer. To manifest its effects, vitamin D engages with the vitamin D receptor ( VDR ) gene responsible for its encoding. Investigations have unveiled that polymorphisms within the VDR gene exert influence over the expression and/or functionality of the VDR protein. Notably, certain VDR gene polymorphisms have emerged as particularly pertinent in the context of tumorigenesis, including Fok1 (rs2228570), Bsm1 (rs1544410), Taq1 (rs771236), and Apa1 (rs7975232). This study aims to scrutinize the correlation between the Bsm1 and Apa1 polymorphisms and the susceptibility to breast cancer development. Materials and Methods In this study, 50 patients suffering from breast cancer with less than 6 months breast cancer diagnosis and 50 healthy control individuals have been chosen. Restriction fragment length polymorphism polymerase chain reaction was used to determine the genotype of polymorphisms. Results The results of the statistical analysis showed that among the studied polymorphisms, there was no correlation with the development of breast cancer. Conclusion Studies on various cancers have produced inconsistent results regarding vitamin D's role in the development and progression of cancer. Therefore, further research is necessary to determine vitamin D's role in cancer development and progression.

Keywords: VDR gene; breast cancer; polymorphism.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
The process of synthesizing calcitriol involves site-specific modifications of 7-dehydrocholesterol in the skin, liver, and kidney. This results in the generation of a bioactive compound that, in conjunction with the vitamin D receptor (VDR), translocates into the cell cytosol through specialized channels. Upon heterodimerization, the ensuing complex translocates into the nucleus, forming a phosphorylated calcitriol–VDR complex alongside the retinol X receptor and 9cRa transcription factor. This multifaceted complex binds to DNA, suppressing the CYP27B1 gene, which is accountable for parathormone production, in the presence of HDAC complexes and other transcription factors. In contrast, the PBA/SWI/SNF complex facilitates the incorporation of regulatory elements, transcriptional factor IIB, and, notably, RNA polymerase II. This orchestrated process induces the transcription of the CYP27B1 gene, and the resultant protein, localized to the inner mitochondrial membrane, hydroxylates 25-hydroxyvitamin D3 at the 1α position, culminating in the synthesis of the active form, 1α,25-dihydroxyvitamin D3, which subsequently binds to the VDR.
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