مقالات پذیرفته شده در نهمین کنگره بین المللی زیست پزشکی
Identifying Functional SNPs in Vitamin D Receptor Genes and Their Impact in Ovarian Cancer
Identifying Functional SNPs in Vitamin D Receptor Genes and Their Impact in Ovarian Cancer
Dr. Ghazaleh Eslamian,1,*leila Jalilpiran,2Dr. Majid MesgarTehrani,3Dr. Dariush Norouzian,4
1. Assistant Professor Faculty of Nutrition and Food Technology Shahid Beheshti University of Medical Sciences Tehran, Iran 3. Member of the Core Committee of the National Genomics Hub, Shahid Beheshti University of Medical Sciences, Tehran, Iran 4. Pasteur Institute of Iran, Tehran, Iran
Introduction: Introduction: Ovarian cancer as the eighth most common cancer of women globally, is one of the leading causes of cancer deaths in women. It ranks as the fifth main cause of cancer related death in women all over the world. Its incidence and mortality rates are increasing despite improvements in women's healthcare. The difficulties in early detection have led to ovarian cancer becoming one of the leading causes of cancer-related fatalities among women. Age, genetic mutations (BRCA1/2), and family history are the main key risk factors. If not identified in early stage, it has a poor prognosis, with an overall five-year survival rate of just 49%. Given this context, early detection strategies, as well as enhanced prevention and awareness are an essential global need. Due to non-specific clinical symptoms and the lack of reliable diagnostic biomarkers, the outcomes of early detection for ovarian cancer in its initial stages are reported to be inadequate. Currently, focusing on discovery of new reliable biomarkers to improve diagnosis and treatment through big data analysis can be a solution. In this context, VDR gene polymorphisms have been proposed in recent studies as potential and promising markers linked to the risk and prognosis of this cancer. This study uses comprehensive bioinformatics analyses to evaluate the association between VDR gene SNPs and ovarian cancer, and their potential as diagnostic and prognostic biomarkers.
Methods: Material and method: To identify VDR SNPs which are associated with ovarian cancer, we used online resources from the National Center for Biotechnology Information (NCBI). Then the collected genetic variant data were processed and analyzed using MegaGene, an internationally recognized bioinformatics platform for pharmacogenetics research, systematically.
Results: Results: Our findings determine a significant link between the x and y polymorphisms and a heightened risk of ovarian cancer, while the z polymorphism illustrates a protective effect. Based on this comprehensive meta-analysis, the x, y and z variants of the VDR gene may have a significant association with ovarian cancer susceptibility and risk profiles.
Conclusion: Conclusion: Based on our findings, to evaluate susceptibility and improved therapeutic decisions in patients with ovarian malignancies, VDR gene polymorphisms genotyping and monitoring is recommended. The use of VDR gene polymorphisms as potential biomarkers may enhance prognosis and facilitate the development of personalized treatment strategies.