The -31 G/C promoter gene polymorphism of surviving in Turkish colorectal cancers patients

Introduction: Survivin (also known as birc5) is the first protein discovered among the apoptosis-regulating gene family referred to as inhibitor of apoptosis proteins (IAPs). It is expressed and controlled during cellular differentiation and development in human beings. Survivin expression has been shown in a number of cancers and has been associated with cancer development. Objective: In our study, we compared with blood samples as our control and normal- tumoural tissue samples, which obtained from the same tissue of 100 cases diagnosed with colorectal cancer, at Department of Pathology, Istanbul University. Methods: The present study employed PCR-RFLP to identify the -31 G/C polymorphism in the promoter region of the survivin gene. Distribution of the survivin polymorphism was compared between control and tumoural tissue samples using the chi-square test. Results: Comparison of all samples revealed that there was significant difference in distribution of survivin promoter -31G/C between control group and tumour and normal tissue of the patient group (p<0.05). When genotypes of the control and tumour tissues were compared according to gender, there was no statistically significant difference in the distribution of survivin promoter -31G/C in females p=0.420 or males p=0.309. Conclusion: A significant difference was seen in distribution of C allele in tumour tissue compared to normal tissue.

Effects of genetic factors to stent thrombosis due to clopidogrel resistance after coronary stent placement.

Stent thrombosis (ST) is considered as a multifactorial problem which is mostly occurs due to clopidogrel resistance. It may be due to some CYP450 enzyme deficiencies which play role in clopidogrel metabolism. Therefore the aim of this study is to detect the mutations in CYP2C19 and CYP2C9 genes which may cause ST, and to investigate the relation between other risk factors and ST. 50 individuals who have stent thrombosis and 50 individuals who haven't got any complication were enrolled as patient and control group respectively. *2,*3,*4,*5,*17 mutations in CYP2C19 gene and *2 ve *3 mutations in CYP2C9 gene were investigated with RT-PCR. Clopidogrel and aspirin resistance were investigated with multiple electrode platelet aggregometry. Results were evaluated statistically. CYP2C19*2 mutation was found statistically higher in patients (% 18), whereas CYP2C19*17 was found statistically higher in controls (% 36)(p<0.05). Additionally, it was found that patients who have clopidogrel and/or aspirin resistance also have CYP2C19*1/*2 or CYPC19*2/*2 genotype. These relations were also found statistically significant. (p=0,000005 for clopidogrel resistance and p=0,000059 for aspirin resistance). In conclusion, it was suggested that there is a relation between CYP2C19*2 mutations and ST due to clopidogrel resistance, and CYP2C19*17 may have a protective role in this process. The use of novel and more potent drug or high clopidogrel maintenance dosing before stent implantation may be beneficial treatment options for antiplatelet therapy in CYP2C19*2 carriers.