Identifying Novel Molecular Mechanisms Involved in Clotting Factor VIII (F8) Expression in Endothelial Cells as a Measure of Hemophilia Susceptibility
Aim: This study aims to identify the differential gene expression for liver and pulmonary endothelial
cells, and find out genes that are upregulated and down regulated to analyze the interactions and
gene enrichment. Materials and methods: In the present study, we have retrieved the dataset
GSE139993 from NCBI Gene expression omnibus (GEO) database and compare F8 dysregulated
cell type (PMEC) and F8 upregulated cell type (LSEC) to dissect the novel molecular level
interactions and pathways. Results: A total of 11198 significantly differentially expressed genes
(SG), 5 upregulated genes (UG) and 11 down regulated genes (DG) were identified. Among all the
UGs and DGs, COL1A1, COL3A1, COL6A1 and POSTN were highly interconnected. Pathways
identified were in accordance with the identified gene network, relating to hemophilia.
Conclusion: Thus, we have identified that pathways and genes related to cell adhesion and platelet
activity are dysfunctional in cell types with F8 under expression. This might be considered as
factors that enhance the adverse effect of hemophilia in these cell types.