Possible involvement of arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1 genes in the development of endometriosis

Wide inter-individual variation of expression of compound metabolic enzymes is determined by polymorphism and may predispose the development of diseas es provoked by environmental factors. The combined analysis of phase II det oxification system genes: arylamine N-acetyltransferase 2 (NAT2), and gluta thione S-transferases (GS7) M1 and T1 was carried out in patients with mini mal/mild (group I; n = 36) and moderate/severe endometriosis (group II; n = 29) and controls in = 72) of French origin, using polymerase chain reactio n (PCR) and restriction fragment length polymorphism (RFLP). The results sh ow a significant difference between patients and controls with regard to NA T2 gene polymorphism (P < 0.05). This is mainly due to the high percentage of slow acetylator genotypes (SA) in patients compared with controls (60.0 versus 38.9%; P < 0.02) with a distinct preponderance in subjects with mini mal/mild endometriosis (69.4%, P < 0.005) where there is a significantly el evated frequency of slow a(allele S1 (NAT2*5) (P = 0.05). Significantly inc reased proportions of GSTM1-deficient genotypes were found in both groups o f patients, in comparison with the controls (75.0 and 79.3% versus 45.8%; P < 0.0001). A preponderance of GSTT1-negative subjects among patients was a lso detected, but did not appear significant. We suggest the involvement of both NAT2 and GSTM1 detoxification system genes in the pathogenesis of enh ometriosis and the possible impact of NAT2 gene polymorphism in the develop ment of different forms of this disease.