Master’s Discussion
The College of Science for Women, University of Baghdad, discussed the Master’s thesis entitled ( “Molecular Investigation of Potential Diagnostic Biomarkers for Endometriosis Among Iraqi Women Using WES”) submitted by the student ( Noor Emad Abdul Razzaq) in partial fulfillment of the requirements for the degree of Master of Science in Biology/Genetics.
The objectives of this study are summarized as follows:
The thesis aimed to research and investigate the genetic variations and Molecular markers associated with endometriosis among Iraqi women, with the objective of identifying potential molecular biomarkers and non-invasive methods to contribute to early detection, reduce the diagnostic latency period, and support the development of customized and targeted therapeutic strategies.
The study included the collection of venous blood samples from 70 participants (50 patients with endometriosis diagnosed by specialized clinicians, and 20 healthy women serving as the control group) at Baghdad Teaching Hospital. The experimental work included a high-efficiency genomic branch using Whole-Exome Sequencing (WES) for 8 selected samples to identify rare variants. Following that, gene expression analysis was performed using (RT-qPCR) for 45 samples to evaluate the transcription levels of three main genes: (TNF, CDKN2B-AS1, CYP27B1), in addition to conducting a hormone test for 60 samples to evaluate serum estrogen and progesterone levels
- The results of the genomic variant analysis (WES) demonstrated no statistically significant differences in the cumulative burden of common mutations between the patients and the control group, but a significant increase in the frequency of stop-loss mutations was observed among the patients, indicating a defect in translation termination mechanisms that affects protein stability. Regarding functional validation, (RT-qPCR) analysis showed clear regulatory changes; as the gene expression of the CDKN2B-AS1 gene increased by 6.503-fold (P = 0.0001), and the CYP27B1 gene by 3.765-fold (P = 0.0279), while the expression of the inflammatory gene TNF decreased to 0.545-fold compared to healthy individuals. These interconnected changes grant the possibility of adopting these genes as potential molecular biomarkers and as a clear reference tool that contributes to understanding the pathogenic cause and facilitating early detection of the disease.
The final grade: Excellent
