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FokI polymorphism of Vitamin D receptor gene and deficiency of serum Vitamin D increases the risk of breast cancer in North Indian women

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Abstract

Introduction

Breast cancer is a leading cause of cancer morbidity and mortality in females. Decreased availability of Vitamin D within breast cells, contributed by deficiency of serum Vitamin D and polymorphisms of Vitamin D receptor genes are possible risk factors for breast cancer.

Objectives

To study the association of FokI polymorphism of the Vitamin D Receptor gene with breast cancer in females and to study the levels of Vitamin D in breast cancer patients.

Materials and methods

VDR gene FokI genotyping was done by PCR-RFLP method and levels of serum Vitamin D were estimated by ELISA. Statistical analysis was done with SPSS v.21.

Results

Serum Vitamin D was significantly lower in newly diagnosed breast cancer patients than in healthy controls (P = 0.016). Females with serum Vitamin D levels in the highest quartile have a lesser risk of breast cancer than those with serum Vitamin D levels in the lowest quartile (O. R = 2.4421, C.I = 1.09–5.45, P = 0.029). The risk of developing breast cancer is higher in women with the polymorphic T allele for VDR FokI genotype (CT/TT) than those homozygous for the wild C allele (CC). (O.R. = 4.295, C.I. = 2.2110–8.3451, p-value = <0.0001). Levels of serum Vitamin D were significantly higher (p < 0.001) in ER + patients and significantly low in those presenting with higher stages of cancer (p = 0.009).

Conclusions

FokI polymorphism of VDR gene and low circulating Vitamin D levels increase the risk of developing breast cancer in North Indian females. Serum Vitamin D can be used as a prognostic factor.

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Abbreviations

SNP:

Single Nucleotide Polymorphism

VDR:

Vitamin D Receptor

RFLP:

Restriction Fragment Length Polymorphism

PCR:

Polymerase Chain Reaction

bp:

Base pair

ER:

Estrogen Receptor

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Authors and Affiliations

  1. Department of Biochemistry, VMMC & Safdarjung Hospital, New Delhi, India

    Madhuti Chakraborty, Megha Arora, Alka Ramteke, Huda Naaz, Md Muntakhab, Prashant Tripathi & Nikhil Chandran K

  2. Department of Radiotherapy, VMMC & Safdarjung Hospital, New Delhi, India

    Vikas Yadav

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  1. Madhuti Chakraborty
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Chakraborty, M., Arora, M., Ramteke, A. et al. FokI polymorphism of Vitamin D receptor gene and deficiency of serum Vitamin D increases the risk of breast cancer in North Indian women. Endocrine 81, 168–174 (2023). https://doi.org/10.1007/s12020-023-03334-6

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  • DOI: https://doi.org/10.1007/s12020-023-03334-6

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