Background & aim: CYP2D6 enzyme is one of the most important members of the cytochrome P450 superfamily which play an important role in the metabolism of many drugs. The CYP2D6 gene presents a high allele heterogeneity that significantly stimulated many changes between individuals in a population, so that classified into extensive, intermediate, or poor drug metabolizers. The CYP2D6*4 allele is the most common polymorphic allele of CYP2D6 gene which due to a nucleotide change of G→A )G1934→A(, resulting in a reduced or lack of activity of CYP iso-enzyme. The aim of this study was to evaluate the frequency of CYP2D6*4 allele among patient and control groups and to find out the relationship of this polymorphism with the risk of ovarian cancer patients in Tehran.

Methods: In the present case-control study, samples were collected in tubes containing EDTA. DNA is extracted from cancer tissue and blood controls group were performed. The frequency of CYP2D6*4 allele was determined among 120 patients who were admitted to Imam Khomeini Hospital by PCR-RFLP method and then compared with 125 normal controls who visited the same center. The collected data were analyzed using logistic regression analysis.

Results: The results show that the prevalence of patients group with poor metabolism of drugs (PM) 13.3%, heterozygotes extensive metabolizer (HEM) 23.3% and extensive metabolizer (EM) was 63.3% respectively. The results indicated no significant association was seen between HEM and ovarian cancer risk (OR=1.27; CI 95% ; 2.85-0.56; P=0.55). Also no association was observed between PM and risk of this disease among the studied population (OR=0.75; CI 95%; 1.38-0.41; P= 0.36).

Conclusion: There was no meaningful association between CYP2D6*4 allele which results in variations of G1934→A genetic polymorphism and ovarian cancer has been observed in the study population.