Penetrance and phenotypic effects of C/t polymorphism at 1595 position in exon 5 of the traiL gene among prostate cancer patients in Pakistani population

摘要

It is becoming progressively more understandable that variations within the sequence of tumor suppressor genes and oncogenes may contribute to cancer progression. Increasingly it is being realized that cancer cells get resistant to pro-apoptotic signals and evidence has started to shed light on the fact that nucleotide polymorphisms may lead to suboptimal apoptotic capacity and therefore increased cancer risk. It has previously been shown that there is a relationship between C/T polymorphism at 1595 position in exon 5 of the TRAIL gene and cancer however rapidly accumulating data cannot be extrapolated to other populations due to intra- and inter-ethnic variability. The study is focused on the C/T polymorphism at 1595 position in exon 5 of the TRAIL gene in prostate cancer patients diagnosed in local population in Pakistan. 126 prostate cancer patients and 91 control subjects participated in this study. 5ml venous blood was taken from participants with informed consent. DNA was extracted using standard organic methods. PCR-RFLP analysis was done for C/T polymorphism at 1595 position in exon 5 of the TRAIL gene using site specific primers and restriction enzyme. The results were statistically evaluated in SPSS14. In this particular study it was found that there was no significant difference in major allele C genotype between patients and controls, p value >0.05. Similar statistically non-significant difference was observed for T allele genotype in the patient and control groups. However the heterozygous genotype CT was significantly higher, p value 0.053 (～0.05), in prostate cancer patients as compared to controls. This is the first study providing a clue of relationship of C/T polymorphism role in prostate cancer development and progression in our population.