Polymorphisms of mitochondrial DNA control region are associated to endometriosis

J Assist Reprod Genet. 2018 Mar;35(3):533-538. doi: 10.1007/s10815-017-1082-4. Epub 2017 Nov 9.


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: Brazilian population; Endometriosis; Medical genetics; Mitochondrial DNA; Polymorphism.

MeSH terms

  • Adolescent
  • Adult
  • Brazil
  • Case-Control Studies
  • DNA, Mitochondrial / genetics*
  • Endometriosis / genetics*
  • Female
  • Gene Frequency
  • Haplotypes
  • Humans
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Young Adult


  • DNA, Mitochondrial