Genotype and allele frequency of human multidrug resistance (MDR1) gene C3435T polymorphism in Denizli province of Turkey

Abstract

Human p-glycoprotein encoded by human multidrug resistance (MDR1) gene, is a transmembrane protein that serves as efflux pump for a wide variety of lipophilic compounds possessing a physiological role in protecting cells against the DNA damaging of certain xenobiotics. According to the published data, the frequency of C3435T polymorphism differs depending on the different ethnical populations such as Asian, African, and Caucasians populations. In our study, we identified the MDR1 C3435T polymorphism in 150 healthy volunteers in Denizli province of Turkey. DNA was extracted from peripheral blood samples by standard phenol/chloroform extraction method. Polymerase chain reaction-restriction fragment length polymorphism was used for the detection of C3435T single nucleotide polymorphism. We obtained CC, CT and TT genotype frequencies as 20, 53 and 27%, respectively. According to our results, the C allele in Turkish population (Denizli province, west of Turkey) is found 47% and this data shows similarity with Caucasian (UK and German) populations and significantly lower than African populations (p < 0.001). Our study is the first data on the genotype and allele frequency of the human multidrug resistance (MDR1) Gene C3435T Polymorphism in Denizli Province at regional basis in Turkey. Our results could serve as a basis for large-scale correlation studies on the relevance of C3435T genotype in cancer therapy and other diseases in Turkish population. Investigation of genotype frequencies related with p-glycoprotein substrates should be investigated in large scale at regional bases in Turkish population. The scaled-up data might help either to the use of p-glycoprotein substrates to be used for therapeutic applications and population genetics considering the genotype frequencies possibly occurring throughout the history in Anatolian basin.