Investigation of CYP1B1*3 and CYP1B1*4 polymorphisms in a Turkish population

Abstract

CYP1B1 is a P450 enzyme involved in activating pro-carcinogens to carcinogens as well as estrogen metabolism. In order to examine the effect of CYP1B1 on cancer metabolism, it should be compared with healthy individuals and whether the polymorphism between healthy individuals and sick individuals is significant. This study aims to screen the CYP1B1*3 and CYP1B1*4 polymorphisms of a group of individuals who have not been diagnosed with cancer to examine the genetic differences of metabolic enzymes in the Turkish population.This study is a cross-sectional type descriptive study.The study included 295 patients without a cancer diagnosis. The research sample includes patients who applied to Ankara University Medical Faculty Hospital and Afyonkarahisar Health Sciences University Research and Application Hospital. The individuals signed voluntary consent forms before participation, and 3 ml blood samples were taken from each. DNA samples were obtained using a DNA isolation kit, and then polymorphism was determined by real-time PCR. The distribution of CYP1B1*3 and CYP1B1*4 polymorphism in healthy individuals was determined. The frequency of CYP1B1*1/*1 (wild type), CYP1B1*1/*3 (heterozygous) and, CYP1B1*3/*3 (mutant) genotypes were found 39.33%, 50.67% and 10.0% respectively. The frequency of CYP1B1*1/*1 (wild type), CYP1B1*1/*4 (heterozygous) and, CYP1B1*4/*4 (mutant) genotypes were found 39.31%, 60.69% and 0% respectively. No individuals with mutant genotype were detected in this genotype (CYP1B1*4).The results show that the genotype frequencies of the CYP1B1*3 gene polymorphism in a Turkish population are similar to other Caucasian populations. However, it was determined that the Turkish population did not show similarity with other races in terms of CYP1B1*4 polymorphism.