Correlation between polymorphisms in vitamin D receptor gene and breast cancer in Egyptian patient / Nada Hanafey Mahmoud ; Supervised Salwa Farouk , Haidan Mostafa

Thesis (M.Sc.) - Cairo University - Faculty of Science - Department of Zoology

The present study aimed to explore whether genetic polymorphisms in vitamin D receptor (VDR) are correlated to the breast cancer prevalence in an Egyptian population. Polymerase chain reaction-restriction fragment polymorphism (PCR-RFLP) and Single strand conformation polymorphism were used to genotype three frequently analyzed VDR gene SNPs (rs1544410, rs7975232 and rs731236), and poly-A. They identified by sequencing analysis. This is the first study recorded a new SNP in ApaI genotype within an Egyptian population and was registered with the accession number KY859868. The authors found that TC, in rs731236, and TG in KY859868 SNP showed significant distribution differences with an increased risk of breast cancer (P <0.05, OR = 3.71, 95% CI: 1.04 -13.28 and P <0.001, OR = 7.05, 95% CI: 2.02-24 respectively) compared with the wild-type TT genotype carriers in both SNPs. In addition, the distribution frequencies of haplotypes ACT, GTT and ATT in the patients group were significant, where ATT haplotype was associated with the highest breast cancer risk among all other haplotypes in the patients group (P=0.0023, OR=1.72, 95% CI=1.24-2.437). Conclusions: VDR ApaI and TaqI confer high breast cancer susceptibility, particularly in Egyptians females carrying haplotype ATT. However, found that there`s a correlation between rs1544410, KY859868 , rs731236, poly-A and breast cancer risk in (C-G-T-S, T-G-G-L, C-G-T-L, C-G-G-S, & C-G-G-L) haplotypes. further studies focusing on the VDR variants and haplotypes effects on vitamin D and VDR concentrations, activities and functionalities are needed

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