Objective: To study the association between gene polymorphisms of cytochrome P450 1B1 (CYP1B1) in exon 2 codon 119 (G-T) and exon 3 codon 432 (C-G) and the susceptibility to endometriosis.
Methods: Allele-specific polymerase chain reaction was used to analyze the gene polymorphisms in 55 cases of endometriosis and 45 cases of normal controls.
Results: The frequencies of alleles G and T in codon 119 G/T of CYP1B1 gene showed a significant difference between the endometriosis group and the control group (P<0.05), with an odds ratio of 2.061. There was a significant difference in the frequencies of genotypes G/G, G/T and T/T between the two groups (P<0.05). Compared with wild-type G/G, the susceptibility of endometriosis with genotypes T/T and G/T was 2.625 and 3.214 fold, respectively. In the population with combined genotypes of CYP1B1 codon 119 GT or GG-codon 432 CC, statistically significant difference was observed between cases and controls (GT+CC vs GG+CC, OR=2.976, P<0.05).
Conclusion: The gene polymorphisms of CYP1B1 in exon 2 codon 119 may be a genetic risky factor for endometriosis. The combination of CYP1B1 -GT and CYP1B1 -CC may act as a risky factor in the development of endometriosis.
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