Vitamin D Receptor Gene TAQ 1 (rs 731236) PolymorphismIn Breast Cancer Patients ATH Adam Malik Hospital Medan and its Relationship with Histopathologygrading
Journal Title: Biomedical Journal of Scientific & Technical Research (BJSTR) - Year 2018, Vol 6, Issue 1
Abstract
Background: Breast cancer is the one of major cause of death in women especially in developing countries. In 2012 it was recorded nearly 522.000 deaths occurred due to this cancer. Taq 1 polymorphism is a silent SNPs called a genetic risk factor to breast cancer. The aim of the study: To investigatethe relationship between of vitamin D-Taq1 receptor polymorphism gene (rs 731236) and histopathologic grading in breast cancer patients at Adam Malik Hospital. Medan. Materials and Methods: Research subjects amounted to 53 breast cancer patients new diagnosed that have not received chemotherapy. DNA isolation from blood cells and gene amplification with PCR followed by RFLP using Taq1 restriction enzyme. Histopathologic grading data was obtained from the patient’s medical records reviewed with anatomical pathologist. Result: TT genotype was 92.5% genotype TC 7.5%. CC 0% genotype with Hardy-Winberg Equilibrium (HWE) p=0.77. Histopathologic grading was obtained grade 1 (9.4%), grade 2 (49.1%) and grade 3 (41.5%). Conclusion: Polymorphism of vitamin D-Taq1 receptor gene was not related to histopathologic grading in breast cancer patients at Adam Malik Hospital (p = 1.000). Breast cancer was one of most commonly occurred cancer in women in 2012. It was reported that 1.7 million (11.9%) women worldwide diagnosed as breast cancer and 6.3 million women with breast cancer had survived for 5 years [1]. In 2012. 404.000 breast cancer cases occurred annually in Asian with incidence of 30 cases in every 100.000 women. Highest incidence was in China (46%). Japan (14%) and Indonesia (12%) [2]. Risk factor of breast cancer is multi factorial. Among of which was nutrition. Vitamin D is a far soluble vitamin with wide range of function. Low vitamin D level was associated with some diseases such as diabetes Cardiovascular osteoporosis multiple sclerosis and cancer [3]. Imtiaz et al. [4] Study found that serum vitamin D level in breast cancer patients were lower (9.3 ng/ml) than control group (14.9ng/ml). Vitamin D deficiency occurred in 95.6% breast cancer patients. Similar result also stated by Janbabai et al. [5] which studied vitamin D levels in 200 breast cancer patients. They explained that 23.5% of breast cancer patients developed severe vitamin D deficiency and 37.5% developed mild deficiency. In its mechanism of action vitamin D needs a receptor to be transported into cells. Thirty one tissues had been identified to express vitamin D receptor. Including breast tissue; this indicates that cells in the tissues have potential to exert biological responses based on the number of vitamin D available [6]. Gene encoding vitamin D receptor was found in chromosome 12. That is 12q13.This gene had 9exon and 3intron with length approximately of 75 kb. Taq1 (rs 731236) polymorphism occurred in exon 9. Polymorphism occurred was SNPs (single nucleotide polymorphism) where thymine (T) base was altered into cytosine (C) (cod on ATT become ATC). This base alteration is still encoding isoleucine therefore it is called as Silent SNPs [7,8]. Several studies had reported association of polymorphism of Taq1 gene with breast cancer incidence [9-11]. Despite that there is still few associating this with breast cancer characteristics. Especially histopathologic grading such study had never been conducted in Indonesia.
Authors and Affiliations
Ika Waraztuty, Kamal Basri Siregar, Yahwardiah Siregar
Keywords
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- EP ID EP585618
- DOI 10.26717/BJSTR.2018.06.001302
- Views 126
- Downloads 0
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