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CYP2C19 polymorphism increases the risk of endometriosis

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

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.

Objectives

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.

Conclusion

We observed that CYP2C19 polymorphism is associated with endometrisis in Brazilian women and can be considered a potential biomarker of the disease.

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Acknowledgments

The authors thank the Brazilian agency Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) for scientific initiation scholarship granted by the graduate student Amanda Sonnewend and scientific grant #470333/2013-8.

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Authors and Affiliations

  1. 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 Maria Christofolini

  2. Instituto Ideia Fertil de Saúde Reprodutiva, Collective Health Department, FMABC, Avenida Príncipe de Gales, 821, Ed. CEPES, 2o. floor, room 101, Santo André, SP, Brazil

    Aline Amaro, Fernanda Mafra, Amanda Sonnewend, Bianca Bianco & Caio Parente Barbosa

Authors
  1. Denise Maria Christofolini
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  2. Aline Amaro
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  3. Fernanda Mafra
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  4. Amanda Sonnewend
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  5. Bianca Bianco
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  6. Caio Parente Barbosa
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Corresponding author

Correspondence to Denise Maria Christofolini.

Additional information

Capsule In a case-control study comprising 500 women with endometriosis and 500 women without the disease we were able to demonstrate a statistically difference considering genotype and allelic frequency of CYP2C19 polymorphism (rs11592737). Comparing endometriosis cases classified as stages I/II and III/IV with control group for the CYP2C19 we observed that the polymorphism is more frequent in the cases with stages I/II. Regarding HSD17B1 polymorphism no association was also found. We concluded that CYP2C19 polymorphism is associated to endometriosis in Brazilian women and can be considered a potential biomarker of the disease.

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Christofolini, D.M., Amaro, A., Mafra, F. et al. CYP2C19 polymorphism increases the risk of endometriosis. J Assist Reprod Genet 32, 91–94 (2015). https://doi.org/10.1007/s10815-014-0356-3

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  • DOI: https://doi.org/10.1007/s10815-014-0356-3

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