Abstract

Vitamin D is an important component of the endocrine system that controls calcium homeostasis and bone mineralization. Because of the very short half-life of free serum vitamin D it is stabilized and transported to target tissues by being bound to the vitamin D binding protein (VDBP). The most common polymorphisms: rs4588 and rs7041 in the vitamin D binding protein gene may correlate with differences in vitamin D status in the serum. This review presents data that relate to the presence of genetic variants in the VDBP gene in correlation with certain diseases, mostly concerning cancers (breast, prostate, pancreatic, lung, colorectal, basal cell carcinoma cancer and cutaneous melanoma) or other related diseases (thyroid autoimmunity disorders, obesity, diabetes mellitus, bone metabolism, rheumatoid arthritis, ankylosing spondylitis, asthma, chronic obstructive pulmonary disease, tuberculosis and coronary artery diseases).

Highlights

  • Vitamin D plays a crucial role in the endocrine system which controls calcium homeostasis in the whole body [1] and along with parathyroid hormone—bone mineralization [2]

  • Another study shows that status of 25(OH)D were strongly related to vitamin D binding protein (VDBP) polymorphisms in both single-nucleotide polymorphisms (SNP): rs7041 and rs4588, especially when there is a high concentration of vitamin D in need of transportation [57]

  • The association between VDBP rs12512631 and the risk of cutaneous melanoma was shown in a study that was conducted among a Spanish population, as the exposure to the sun is higher than in the other European countries, especially northern ones

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Summary

Introduction

Vitamin D plays a crucial role in the endocrine system which controls calcium homeostasis in the whole body [1] and along with parathyroid hormone—bone mineralization [2]. Vitamin D is classified as a steroid hormone with wide regulatory effects It affects regulation of the expression of many different genes that are involved in the differentiation, activation and proliferation of many cell types. VDR is expressed in nerve cells, glial cells and cells of the immune system, such as monocytes, macrophages and activated T and B lymphocytes, as well as in cancer cells (colon cancer) and liver stellate cells. The presence of these receptors allows for the regulation of gene expression involved in organ development, cell cycle control, calcium and phosphate homeostasis in bone metabolism and xenobiotic detoxification.

Vitamin D and Gene Regulation
Vitamin D3 and D2
Role of VDBP
VDBP Gene Family Polymorphism
Breast Cancer
Prostate Cancer
Pancreatic Cancer
Lung and Colorectal Cancer
Basal Cell Carcinoma
Cutaneous Melanoma
Diabetes Mellitus
Thyroid Autoimmunity Disorders
Obesity
Bone Metabolism
Rheumatoid Arthritis
Ankylosing Spondylitis
Asthma
Tuberculosis
Findings
Conclusions
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