Relationship between MspI polymorphism of CYP1A1 gene and the risk of endometriosis in an Iranian population: A case-control study

Endometriosis is a disease that affects women of reproductive age. This disease is characterized by the presence of endometrial-like tissues (endometrial or stromal glands) outside the uterus and shows significantly elevated prevalence in industrial regions. Additionally, an interaction between genetics and environmental factors is assumed for the disease. Enzymes belonging to the cytochrome P450 (CYP) family are participated in detoxification process of a wide range of environmental toxins and carcinogens. Thereby, they are good link for the interaction. CYP1A1 which belong to cytochrome P450 (CYPs) superfamily, is a very important gene for the metabolism of carcinogens.

The aim of this study was to analyze the frequency of the MspI polymorphism of CYP1A1 gene and its relation to endometriosis.

Genomic DNA was isolated from 93 endometriosis women and 139 healthy controls. Genotyping was performed using polymerase chain reaction followed by restriction fragment length polymorphism analysis.

Frequencies of the TT, TC, and CC genotype of CYP1A1 gene polymorphism in patients were 73.1%, 22.6%, and 4.3%, while frequencies in controls were 74.1%, 22.3%, and 3.6%, respectively. So there was no significant differences between the genotypes in two groups (p=0.961).

According to our study, MspI polymorphism of CYP1A1 gene appears to be not associated with the risk of endometriosis in the studied population. However, additional studies, especially with larger sample size are needed to validate these findings.