Purpose: The present study was designed to screen the genetic polymorphisms and expression profiling of CEP-152 and CEP-63 genes in brain tumor patients. Methods: The amplification refractory mutation system PCR technique (ARMS-PCR) was used for mutation analysis using 300 blood samples of brain tumor patients and 300 overtly healthy controls. For expression analysis, 150 brain tumor tissue samples along with adjacent uninvolved/normal tissues (controls) were collected. Results: A significantly higher frequency of the mutant genotype of the CEP-152 single nucleotide polymorphism (rs2169757) and CEP-63 single nucleotide polymorphisms (rs9809619 and rs13060247) was observed in patients versus overtly healthy controls. The authors' results showed highly significant deregulation of CEP-152 (p < 0.0001) and CEP-63 (p < 0.0001) in glioma/meningioma tumor tissues versus adjacent normal tissue. Conclusion: The present study showed that variations in CEP-152 and CEP-63 genes were associated with an increased risk of brain tumor.
Keywords: ARMS-PCR; CEP-152; CEP-63; brain tumors; polymorphism; rs2169757.
Lay abstract The purpose of this research was to explore the role of CEP-63 and CEP-152 in brain tumors in the Pakistani population. Loss of function or genetic deletion of these genes results in a mismatch of cell cycle, culminating in a cell phenotype conducive to transformation and tumorigenesis in different regions, including the brain region. Brain tumor is the most common cancer and the second most common cause of cancer death in Asia. The highest incidence rates are observed in Eastern Asia, including Pakistan. The aim of this research was initially to detect genetic variations of CEP-63 and CEP-152 in brain tumor patients. Secondly, expression variation of CEP-63 and CEP-152 was also examined in brain tumor cohort. Results from present study showed the significant involvement of CEP-63 and CEP-152 variations in brain carcinogenesis. Further analysis showed that CEP genes variations may act as predictive or prognostic markers for brain cancer.