CYP2C19 polymorphism increases the risk of endometriosis.
OBJECTIVE
Estrogen metabolizing gene mutations can be associated with defective hormonal signaling leading to disease processes. Endometriosis is an estrogen dependent that can be influenced by defective signaling in the estrogen pathway.


OBJECTIVE
To evaluate the association of A/G 85952 CYP2C19 and A/G 937 HSD17B1 gene polymorphisms with endometriosis through the investigation of a large Brazilian sample of women with endometriosis and a fertile control group.


METHODS
Five hundred women with endometriosis and 500 women without endometriosis were tested for CYP2C19 and HSD17B1 polymorphisms, by TaqMan Real Time PCR. The results were statistically analyzed by chi-square, logistic regression and tested for Hardy-Weinberg equilibrium.


RESULTS
The comparison of genotype and allelic frequency of CYP2C19 polymorphism (rs11592737) in patients with endometriosis and control group showed a statistically significant difference (p = 0.0203) and for the HSD17B1 polymorphism (rs605059) differences were not significant (p = 0.0687). Comparing the stages I/II and III/IV endometriosis with the control group for the CYP2C19 we observed p = 0.0133 and p = 0.0564, respectively, and for HSD17B1 the values for p = 0.4319 and p = 0.0667.


CONCLUSIONS
We observed that CYP2C19 polymorphism is associated with endometrisis in Brazilian women and can be considered a potential biomarker of the disease.
Instituto Ideia Fertil de Saúde Reprodutiva, Morphology Department, FMABC, Avenida Príncipe de Gales, 821, Ed. CEPES, 2o. floor, room 101, Santo André, SP, Brazil, denise.christofolini@fmabc.br.
Denise Maria
DM
Christofolini
Aline
A
Amaro
Fernanda
F
Mafra
Amanda
A
Sonnewend
Bianca
B
Bianco
Caio Parente
CP
Barbosa
D000328:Adult; D065731:Cytochrome P-450 CYP2C19 / Q000235:genetics*; D004715:Endometriosis / Q000235:genetics* / Q000473:pathology; D004967:Estrogens / Q000235:genetics / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide
D004967:Estrogens; C045793:CYP2C19 protein, human; D065731:Cytochrome P-450 CYP2C19