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Establishment of an Experimental Mouse Model of Endometrioma to Study its Related Infertility
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CYP2C19 polymorphism increases the risk of endometriosis
Denise Maria Christofolini1, Aline Amaro, Fernanda Mafra
1Instituto 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.
Journal of Assisted Reproduction and Genetics
|November 19, 2014
Summary
Genetic variations in CYP2C19 are linked to endometriosis in Brazilian women. This CYP2C19 polymorphism may serve as a potential biomarker for detecting endometriosis.
Area of Science:
- Genetics and Molecular Biology
- Reproductive Endocrinology
- Disease Pathogenesis
Background:
- Estrogen-metabolizing gene mutations can disrupt hormonal signaling, contributing to disease development.
- Endometriosis is an estrogen-dependent condition potentially influenced by alterations in the estrogen pathway.
Purpose of the Study:
- To investigate the association between A/G 85952 CYP2C19 and A/G 937 HSD17B1 gene polymorphisms and endometriosis.
- To analyze a large Brazilian cohort comprising women with endometriosis and a healthy control group.
Main Methods:
- Genotyping of CYP2C19 and HSD17B1 polymorphisms was performed using TaqMan Real Time PCR in 500 women with endometriosis and 500 controls.
- Statistical analysis included chi-square tests, logistic regression, and Hardy-Weinberg equilibrium testing.
Main Results:
- A statistically significant difference in genotype and allelic frequency was observed for the CYP2C19 polymorphism (rs11592737) between endometriosis patients and controls (p=0.0203).
- No significant differences were found for the HSD17B1 polymorphism (rs605059) (p=0.0687).
- Further analysis revealed significant associations for CYP2C19 in early stages (I/II) (p=0.0133) but not advanced stages (III/IV) (p=0.0564) compared to controls.
Conclusions:
- The CYP2C19 polymorphism is associated with endometriosis in the Brazilian population.
- This genetic variation presents potential as a biomarker for endometriosis.
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