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Journal of Assisted Reproduction and Genetics

, Volume 35, Issue 3, pp 533–538 | Cite as

Polymorphisms of mitochondrial DNA control region are associated to endometriosis

  • Marina Paula Andres
  • Mari Maki Siria Godoy Cardena
  • Cintia Fridman
  • Sergio Podgaec
Genetics

Abstract

Purpose

Polymorphisms in the control region of mitochondrial DNA (mtDNA) can affect generation of reactive oxygen species and impact in the pathogenesis of endometriosis. This study investigated the association of mtDNA polymorphisms with endometriosis.

Methods

Patients were divided in two groups: endometriosis (n = 90) and control (n = 92). Inclusion criteria were as follows: women between 18 and 50 years, with histological diagnosis and surgical staging of endometriosis (endometriosis group) or undergoing gynecological surgery for tubal ligation, leiomyoma, or ovarian cysts, with no evidence of endometriosis (control group). DNA extraction was performed from peripheral blood. Sanger sequencing of mtDNA control region was performed, and polymorphisms were determined comparing the sequences obtained with the Cambridge Reference Sequence.

Results

The frequency of polymorphisms T16217C (14.4 and 5.4% of endometriosis and control group, respectively; p = 0.049) and G499A (13.3 vs. 4.3%; p = 0.038) was higher in the endometriosis group, while T146C (32.6 vs. 18.9%; p = 0.042) and 573.2C (5.6 vs. 29.3%; p < 0.001) were lower. No difference was observed in haplogroups between groups.

Conclusion

mtDNA polymorphisms T16217C and G499A were associated with endometriosis, while T416C and 573.2C were shown to be associated with an absence of disease.

Keywords

Endometriosis Mitochondrial DNA Polymorphism Brazilian population Medical genetics 

Notes

Compliance with ethical standards

Conflicts of interest

The authors declare that they have no conflicts of interest.

Supplementary material

10815_2017_1082_MOESM1_ESM.docx (54 kb)
ESM 1 (DOCX 54 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2017

Authors and Affiliations

  • Marina Paula Andres
    • 1
  • Mari Maki Siria Godoy Cardena
    • 2
  • Cintia Fridman
    • 2
  • Sergio Podgaec
    • 1
    • 3
  1. 1.Gynecologic Division, Hospital das Clinicas HCFMUSP, Faculdade de MedicinaUniversidade de Sao PauloSao PauloBrazil
  2. 2.Department of Legal Medicine, Ethics and Occupational Health, Faculdade de Medicina FMUSPUniversidade de Sao PauloSao PauloBrazil
  3. 3.Jewish Teaching and Research InstituteHospital Israelita Albert EinsteinSão PauloBrazil

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