Year :
2024
| Month :
April
| Volume :
18
| Issue :
4
| Page :
BC06 - BC11
Vitamin D and Vitamin D Receptor FokI, ApaI, and BsmI Gene Polymorphisms and their Relation with the Risk of Breast Carcinoma: A Case-control Study
Ashok Kumar Dogra, Archana Prakash, Sanjay Gupta, Meenu Gupta
1. PhD Scholar, Department of Biochemistry, Swami Rama Himalayan University, Jolly Grant, Dehradun, Uttarakhand, India.
2. Professor, Department of Biochemistry, Swami Rama Himalayan University, Jolly Grant, Dehradun, Uttarakhand, India.
3. Professor, Department of Biosciences, Swami Rama Himalayan University, Jolly Grant, Dehradun, Uttarakhand, India.
4. Professor, Department of Radiation Oncology, Swami Rama Himalayan University, Jolly Grant, Dehradun, Uttarakhand, India.
Correspondence Address :
Dr. Ashok Kumar Dogra,
PhD, Department of Biochemistry, Swami Rama Himalayan University, Jolly Grant, Dehradun-248140, Uttarakhand, India.
E-mail: akbhagat.pu@gmail.com
Abstract
Introduction: Breast cancer stands as the leading cause of mortality among women in developing nations. The potential role of Vitamin D in mitigating the incidence of breast cancer is thought to stem from its ability to impede cell proliferation by interacting with the Vitamin D Receptor (VDR). The VDR gene is responsible for encoding the VDR, which plays a pivotal role in mediating the effects of vitamin D.
Aim: To analyse vitamin D levels and the association of VDR FokI, ApaI, and BsmI genotypic distribution frequency with the risk of breast cancer.
Materials and Methods: The case-control study included 220 samples, including 110 breast cancer patients and 110 age-matched control women aged 30-70 years. The Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) genotyping was performed using Deoxyribonucleic acid (DNA) extracted from blood, and the circulating levels of 25-hydroxyvitamin D by case/control were estimated by chemiluminescence immunoassay.
Results: The 3’ VDR polymorphism BsmI sequence showed minimal association with breast cancer risk. The bb genotype had a significantly lower odds ratio of 0.056 (p-value<0.05). Conversely, the BB and Bb genotypes exhibited no statistically significant associations with odds ratios of 1.76 (95% CI: 0.36-8.54; p-value>0.05) and 1.30 (95% CI: 0.27- 6.25; p-value>0.05), respectively. Isolated analysis of the FokI variant revealed a significant association with increased breast cancer risk, with odds ratios of 5.49 (FF) and 6.00 (Ff), both demonstrating statistical significance (p-value<0.05), and a Chi-square value of 0.006. Additionally, the p-value for serum Vitamin D levels was found to be highly significant at p-value<0.001, indicating that the levels were significantly lower in individuals newly diagnosed with breast cancer compared to those in the healthy control group.
Conclusion: The study found a significant link between breast cancer susceptibility and VDR (FokI) polymorphism FF and Ff genotypes, with minimal impact observed for (BsmI) polymorphism bb genotype. This implies that certain genetic variations, especially in the FokI polymorphism of the VDR gene, are associated with an elevated risk of breast cancer.
Keywords
ApaI single nucleotide polymorphisms, Breast cancer, BsmI single nucleotide polymorphisms, FokI single nucleotide polymorphisms
DOI and Others
DOI: 10.7860/JCDR/2024/69296.19241
Date of Submission: Jan 01, 2024
Date of Peer Review: Jan 30, 2024
Date of Acceptance: Feb 29, 2024
Date of Publishing: Apr 01, 2024
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was Ethics Committee Approval obtained for this study? Yes
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. NA
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Jan 01, 2024
• Manual Googling: Feb 02, 2024
• iThenticate Software: Feb 27, 2024 (12%)
ETYMOLOGY: Author Origin
EMENDATIONS: 9
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