Vitamin D receptor gene polymorphisms and risk of breast cancer in Iranian women. (January 2022)

• Record Type: Journal Article
• Authors: Kazemi, Seyedeh Maryam; Esmaieli-bandboni, Aghil; Veisi Malekshahi, Ziba; Shahbaz Sardood, Mohammad; Hashemi, Mehrdad; Majidzadeh, Keivan; Kadkhodazadeh, Maryam; Esmaili, Rezvan; Negahdari, Babak
• Is Part Of: Annals of medicine and surgery. Volume 73(2022)
• Publication Date: 2022-01
• Subjects: VDR Vitamin D receptor -- BMD Bone mineral density -- LD Linkage disequilibrium -- LOH Loss of heterozygosity -- HWE Hardy-Weinberg equilibrium -- RFLP Restriction fragment length polymorphism -- PCR Polymerase chain reaction; Breast cancer -- Polymorphism -- Genetics -- Vitamin D receptor; Surgery -- Periodicals; Medicine -- Periodicals; General Surgery -- Periodicals; Education, Medical -- Periodicals; Periodicals; 617
• DOI: 10.1016/j.amsu.2021.103150
• Languages: English
• ISSNs: 2049-0801

Abstract

Abstract: Objectives: Vitamin D deficiency is a driving force of common cancers like breast cancer. Vitamin D receptor (VDR) can play a tumor suppressor role by helping the precise function of vitamin D in cells such as modulation TGF-β signaling pathway. This study aimed to investigate the association of VDR gene variants and susceptibility to breast cancer in Iranian women. Methods: Genomic DNAs were isolated from blood samples of 161 women with breast cancer and 150 healthy women. After amplification of five positions of VDR gene, the prepared amplicons were digested with Taq I, Apa I, Bsm I, Cdx2, and Fok I restriction enzymes. Results: Subsequently, the digested products were electrophoresed on the 1.5% agarose gel. Odds ratios (ORs) for breast cancer were calculated for genotypes and estimated haplotypes. Binary logistic regression analysis showed Fok I (rs2228570), Bsm I (rs1544410), and Apa I (rs7975232) polymorphisms had the significant distribution in patients than to the normal group. Analysis of linkage disequilibrium for all pairs of SNPs showed that D′-value between SNP Taq I and SNP Bsm I was significantly (p ≤ 0.05). We observed that four major haplotypes of Apa I, Bsm I, Fok I, Cdx2, and Taq I SNPs significantly were in high frequency than predicted frequency. Among these four haplotypes, CGTAT haplotype was in a higher significant association than others with breast cancer risk (p-value = 0.0001). Conclusion: Our results showed that Fok I, Bsm I, and Apa I of VDR polymorphisms associated with the risk of breast cancer in Iranian population. Highlights: Vitamin D deficiency is a driving force of common cancers like breast cancer. VDR can play a tumor suppressor role by helping the precise function of vitamin D. Fok I, Bsm I, and Apa I of VDR polymorphisms associated with the risk of breast cancer in Iranian population.