Objective: To study the association between gene polymorphisms ofcytochrome P450 1B1 (CYP1B1) in exon 2 codon 119 (G-T), exon 3codon 432 (C-G) and the susceptibility to endometriosis.Methods: Allele-specific polymerase chain reaction method wasused to analyze gene polymorphisms in exon 2 codon 119 (G-T), exon 3codon 432 (C-G) of CYP1B1 in 55 cases of endometriosis and 45 cases ofnormal controlResults: The frequency of allele G, T on codon 119G/T of CYP1B1gene showed a significant difference between the endometriosis groupand the control group ( P<0.05) ,with an odds of 2.061. There was asignificant difference in the frequency of genotype G/G, G/T and T/T.between the two groups (P<0.05). Compared with wild-type G/G, thesusceptibility of endometriosis with the genotypes of homozygoticmutation T/T and heterozygote mutation G/T was 2.625 and 3.214 fold,respectively. In the population with CYP1B1Ala/Ser- CYP1B1Leu/Leugenotypes combined,statistically significant differences were observedbetween cases and controls.(GT+CC vs GG+CC,OR= 2.976, P<0.05)。Conclusions: 1. The gene polymorphisms of CYP1B1 in exon2codon 119 may be a genetic susceptibility factor for endometriosis. Themutation of CYP1B1 gene increases the risk of endometriosis. 2.CYP1B1Ala/Ser gene mutation-CYP1B1Leu/Leu genotypes combinedmay act as a risk factor in the development of endometriosis. |