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Subject Area

Obstetrics and Gynecology

Article Type

Original Study

Abstract

Objective To study the possible association of genetic polymorphism of survivin gene (rs9904341) with the risk of developing colorectal cancer (CRC) in Egyptian patients and explore the mechanisms of survivin polymorphism in the development of CRC. Background Survivin gene is an inhibitor of apoptosis, plays an important role in cell cycle regulation, and may be involved in the development and progression of cancer. Structurally, the human survivin gene comprises four exons and three introns spanning 14.7 kb, which encodes a 16.5 kDa protein. Survivin gene is expressed mostly at the G2/M phase and declines rapidly in the G1 phase of cell cycle. This is largely transcriptionally controlled and involves cell cycle-dependent elements and cell cycle homology regions located in the survivin gene promoter. This mutation can depress cell cycle-dependent transcription of the survivin gene and result in the overexpression of survivin at mRNA and protein levels. Survivin −31G/C polymorphism may be associated with CRC. Patients and methods A case–control study was carried out between November 2016 and December 2017 at the Clinical Pathology Department, Faculty of Medicine, in collaboration with the General Surgery Department and Oncology Department, Menoufia University. The case–control study included 100 participants divided into two groups. Group I included 50 diagnosed CRC patients and group II included 50 apparently healthy participants as a control group. PCR-restriction fragment length polymorphism was used for the detection of survivin gene polymorphisms (rs9904341). Results Mutant CC genotypes was statistically higher in the CRC group (42%) than in the control group (18%) (P = 0.01). C allele was statistically higher in the CRC group (62%) than in control group (43%) (P = 0.007). Conclusion The −31CC genotype of survivin gene is associated with CRC and may be a risk factor for the development of CRC.

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