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.
Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.