Aim: To investigate the association of CYP2C19 genotypes with endometriosis.
Methods: The study included 100 women who underwent laparotomy or laparoscopy: 50 patients with endometriosis diagnosed with surgery and histopathology, and 50 control subjects who had no evidence of endometriosis during exploratory laparotomy or laparoscopy. Genomic DNA of subjects was extracted from the whole blood using High Pure PCR template preparation kit. Genotyping of CYP2C19 polymorphisms were detected by using a LightCycler CYP2C19 mutation detection kit in a real-time PCR, and were compared between the two groups.
Results: Logistic regression analyses showed that the CYP2C19*2 heterozygote genotype was associated with a significantly increased risk of endometriosis. The odds ratio of endometriosis for the CYP2C19*2 heterozygote genotype was 3.165 (p = 0.023) compared with the control group. CYP2C19*3 genotype was detected as wild in all subjects in the endometriosis and control groups.
Conclusion: Our results suggest that CYP2C19*2 heterozygote genotype has higher risk of developing endometriosis. Therefore, CYP2C19*2 allele gene polymorphisms may be associated with genetic susceptibility of endometriosis.