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DOI: 10.18544/PEDM-24.02.0108
Pediatr Endocrino Diabetes Metab 2018;24,2:96-105

The impact of VDR gene polymorphisms on obesity, metabolic changes, bone mass disorders and neoplastic processes

Anna Wysoczańska-Klaczyńska, Aleksandra Ślęzak, Marta Hetman, Ewa Barg

Key words

Vitamin D receptor (VDR), polymorphism, Vitamin D, obesity, osteoporosis

Vitamin D activity is controlled by its receptor (VDR) located in many cells of the body. The presence of VDR in numerous cellular pathways suggests its important role in the etiology and development of many diseases. Increased risk of obesity, metabolic disturbances, bone mass disturbances and neoplasia among certain VDR alleles has been proven. The importance of VDR in the etiopathology of obesity is associated with the occurrence of polymorphisms: Fok1, Bsm1, Apa1, Taq1. VDR expression in adipocytes plays a role in the regulation of energy metabolism and the induction of obesity. Vitamin D and VDR polymorphisms can participate in the development of many metabolic disorders. The VDR gene is one of the better researched genes among patients with type 1 diabetes. The action of vitamin D affects the proper functioning and development of the skeletal system. Vitamin D has an effect on bone remodeling through its receptor and its polymorphisms: Apa1, Bsm1, Taq1, Fok1 and Cdx2. The identification and diagnosis of VDR varieties gives the possibility of early detection of the risk of osteoporosis or individual predisposition to its development. There is a high variability in the results of individual VDR polymorphisms in relation to the occurrence of osteoporosis among various ethnic groups. The polymorphisms important in the neoplastic process include, among others, the polymorphism of Fok1, Bsm1, and Taq1. The association of VDR gene polymorphisms with the risk of breast cancer (Bsm1, Fok1), prostate cancer (Fok1) and malignant melanoma (Fok1) is indicated. The greatest importance in the prognosis is observed in patients with prostate cancer (F1), breast cancer (Bsm1, Taq1), malignant melanoma (Bsm1) and renal cell carcinoma (Taq1). It is important to identify, describe and correlate the occurrence of genetic polymorphisms of the VDR, which will allow early diagnosis or prevention of correlative entities correlated with them.


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DOI: 10.18544/PEDM-24.02.0108
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Pediatric Endocrinology Diabetes and Metabolism

2018; 24, 2: 51-110
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