Role of cytochrome P450 2C19 polymorphisms and body mass index in endometriosis: A case-control study

To investigate the contribution of CYP2C19 polymorphisms and body mass index (BMI) in the development of endometriosis.

This is a case-control study that includes 356 women (187 cases and 169 controls) recruited from two hospitals in the Brazilian public health system. The genotyping analyses of the CYP2C19*2 and CYP2C19*17 polymorphisms were performed using TaqMan allelic discrimination assays, and the association of the studied polymorphisms with endometriosis was evaluated by multivariate logistic regression. Pearson correlation coefficients were used to investigate the interaction between BMI and CYP2C19 polymorphisms.

The variant allele frequencies of CYP2C19*2 were significantly different between cases and controls, and after adjusting for confounding factors, the CYP2C19*2 polymorphism was more frequent in women with endometriosis, considering all cases (CYP2C19*2: OR=1.83; 95% CI=1.17-2.85) and only deeply infiltrating endometriosis (DIE) cases (CYP2C19*2: OR=2.32; 95% CI=1.42-3.77). BMI was significantly lower in endometriosis patients (26.5±4.68) than in controls (27.8±5.65, P<0.02). Among obese women (BMI 30-40), the CYP2C19*2 polymorphism had a greater association with endometriosis (CYP2C19*2: OR=3.27; 95% CI=1.55-6.89). There was a positive correlation between CYP2C19*2 and BMI 30-40 (P=0.004).

The findings of our study suggest that CYP2C19*2 is positively associated with endometriosis and that BMI may have a significant interaction with CYP2C19*2 and the risk of endometriosis.