Exploring the relationship between CNTN gene expression and Glioblastoma with bioinformatic data

Glioblastoma multiform (GBM) is the most common and aggressive type of primary malignant brain tumor and includes about ۱۶% of primary neoplasms of the brain and central nervous system, which has a poor diagnosis and the average survival rate in this disease is less than ۲ years and only ۳-۵% of people survive more than ۵ years.Individuals affected by this condition typically have an average age within the range of ۷۴ to ۸۴ years. . Glioblastoma is mainly located in the frontal, temporal, parietal, and occipital lobes and rarely located in the cerebellum.The incidence of malignant brain tumors is higher in men than in women, including glioblastoma, which is reported to be ۱.۶ times more common in men than in women. Genetic biomarkers can play an important role in the diagnosis and prognosis of this disease and can also be considered as potential targets for treatment.Contactin (CNTN) belong to immunoglobulin CAM superfamily (IgCAM) protein and play critical roles in neurodevelopmental processes therefore, they can be considered as potential proteins to search for their role in nervous system diseases including GBM. Six members of CNTNs include CNTN۱, CNTN۲ [transient axonal glycoprotein ۱ (TAG-۱)], CNTN۳ [brefeldin A-inhibited guanine nucleotide-exchange protein ۱ (BIG)-۱; plasmacytoma-associated neuronal glycoprotein (PANG)], CNTN۴ (BIG-۲), CNTN۵ (neural recognition molecule NB-۲) and CNTN۶ (neural recognition molecule NB-۳). Contactin family members are enriched in the brain and participate in various processes of brain development such as proliferation, differentiation and migration of neurons, axon guidance, as well as the formation and organization of synapses. Methods:This research utilized data from the TCGA database to explore the relationship between CNTN gene expression and GBM. Pathway enrichment analysis for these genes was conducted using EnrichR, and transcription factors and microarrays associated with these genes were identified. The study also assessed the relationship between CNTN gene expression and immune cell infiltration. Results: Heatmap of gene expression for CNTN۱-۶ genes in TCGA GBM data are depicted in figure, in which CNTN۲,CNTN۳,CNTN۵,CNTN۶ genes’expression show a rather significant difference between normal, adjacent tissue and primary or recurrent tumor. The relative expression plots indicate that the expression of all CNTN۱-۶ genes differ between normal adjacent tissue and primary or recurrent tumor.The findings revealed that the CNTN gene family is involved in nervous system pathway development and immune cell infiltration. Additionally, analysis of the CNTN۲ gene mutation showed that ۳۵% of the samples carried an unreported G > C mutation at position NC_۰۰۰۰۰۱.۱۱:۲۰۵۰۴۲۹۷۹ Conclusion: In this study, we investigated the expression of CNTN۱-۶ genes, which has been shown to play an important role in the process of neural development and can be related to GBM, in patients with this disease, we found that CNTN genes are related to the development of the nervous system as well as immune cell infiltration. Also, we found that the expression of the CNTN۲ gene in the tumor tissue of patients with glioblastoma has a significant decrease in expression compared to the adjacent normal tissue.

کلیدواژه ها:

Glioblastoma multiforme (GBM) ، CNTN gene family ، CNTN۲