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. 2023 Jul;81(1):168-174.
doi: 10.1007/s12020-023-03334-6. Epub 2023 Mar 1.

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

Madhuti Chakraborty  1 , Megha Arora  2 , Alka Ramteke  2 , Vikas Yadav  3 , Huda Naaz  2 , Md Muntakhab  2 , Prashant Tripathi  2 , Nikhil Chandran K  2
Affiliations

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

Madhuti Chakraborty et al. Endocrine. 2023 Jul.

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.

Keywords: Breast cancer; FokI SNP; Risk; Vitamin D; Vitamin D Receptor.

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