Association of vitamin D receptor gene polymorphism Taq І and breast cancer in Sudanese female patients
غادة حسن حاج علي, مجاهد سليمان عبد الرحمن محمد أحمد
كلية الدراسات العليا-جامعة النيلين · السودان
Vitamin D and its receptor VDR, have been shown to play many different roles in calcium homeostasis, cell proliferation and cell differentiation .VDR gene displays different polymorphisms that are widely associated with several disorders including breast cancer. VDR gene polymorphism TaqІ substitution was reported to be associated with breast cancer.Aim: This study was conducted to assess the role of VDR-Taq І (rs731236) gene polymorphism in Sudanese breast cancer female patients.Methods: A hospital based cross sectional study was conducted .A total number of 30 patients were enrolled in the study. Breast cancer tissues and normal tissues were taken from each patient. Demographic data and other data regarding family history of breast cancer were obtained using questionnaire after taking consent from subject under study.DNA extraction was performed using guanidine chloride method. PCR and RFLP (TaqІ restriction enzyme) was performed. Two percent of agarose gel electrophoresis was used to detect bands . Results obtained were statistically analyzed using SPSS and Excel programs.Results: According to demographic data, results showed that the most affected age group ranged between (41-50) years . The most affected ethnic group was Afro-asiatic and represented 66.7%. Invasive ductal carcinoma was the most common type representing 76.7% . Fifty percent of patients presented with stage II and 50% in grade III tumors.Molecular analysis for VDR gene polymorphism Taq1 was done using PCR and RFLP. Amplification results using PCR gave a product size 740bp . Analysis of VDR-TaqІ polymorphism showed that the genotype of most tumor tissues was wild type TT (56.7%) and homozygous mutant tt (43.3 %) while in normal tissues the most common genotype found to be wild type TT (83.3%)and homozygous mutant tt represent only ( (16.7 %). Statistical analysis showed a significant difference between tumor and normal tissue genotypes (P value= 0.024).Conclusion: From the result of this study, the VDR gene polymorphism TaqІ homozygous mutant was present in tumor tissue more than normal tissue from breast cancer patient which may indicate an association of VDR gene polymorphism TaqІ and development of breast cancer in Sudanese female .