The association of endometriosis risk and genetic polymorphisms involving dioxin detoxification enzymes: a systematic review

Genetic polymorphisms involving genes encoding for dioxin detoxification enzymes have been implicated as a risk factor for endometriosis, but individual studies have been equivocal and controversial. We therefore performed a systematic review of 10 studies on association of endometriosis and various genes involved in dioxin detoxification process excluding GSTM1/GSTT1. We found that almost all genetic variants involving CYP1A1, CYP2E1, EPHX1, AHR, ARNT, AHRR, and NAT1 that have been investigated by single studies show no association with endometriosis. Two genetic variants were reported to be associated with endometriosis, with each variant only investigated by a single study and there has been no independent confirmation so far. For CYP1A1 MspI polymorphisms, women with +/- and +/+ genotype have about 40% of increased risk of endometriosis as compared with women of -/- genotype. However, there is no strong indication that CYP1A1 MspI polymorphism is consistently associated with endometriosis. For NAT2 polymorphisms, there is no evidence that it is associated with endometriosis.