Mitochondrial displacement loop alterations are associated with endometriosis

Fertil Steril. 2013 Jun;99(7):1980-6.e9. doi: 10.1016/j.fertnstert.2013.02.021. Epub 2013 Mar 13.


Objective: To evaluate the association of mitochondrial displacement (D-) loop alterations with endometriosis in south Indian women.

Design: Case-control study.

Setting: Biochemistry and molecular biology laboratories.

Patient(s): Women with (n = 152) and without (n = 150) endometriosis of south Indian origin.

Intervention(s): All women had a transvaginal ultrasound scan at screening followed by a laparoscopy to confirm the diagnosis (revised American Fertility Society stage III = 54; stage IV = 98).

Main outcome measure(s): Genotyping of entire D-loop (1,124 bp) was carried out on genomic DNA of blood from cases and controls by polymerase chain reaction sequencing analysis.

Result(s): Twelve novel mutations and 187 reported polymorphisms were identified in the D-loop region of cases and/or controls. The A189G, 310 C insertion, T16189C polymorphisms, and 189G/310TC/16189C haplotype have significantly higher frequency in cases compared with controls.

Conclusion(s): Mitochondrial D-loop alterations may constitute an inheritable risk factor for endometriosis. The analysis of D-loop alterations may help to identify patients at high risk for disease outcome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Chi-Square Distribution
  • DNA Mutational Analysis / methods
  • DNA, Mitochondrial / analysis*
  • Endometriosis / diagnostic imaging
  • Endometriosis / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • India
  • Linkage Disequilibrium
  • Mutation*
  • Odds Ratio
  • Phenotype
  • Pilot Projects
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Prognosis
  • Risk Factors
  • Ultrasonography
  • Young Adult


  • DNA, Mitochondrial