title: Mitochondrial displacement loop alterations are associated with endometriosis.
abstract: OBJECTIVE
  To evaluate the association of mitochondrial displacement (D-) loop alterations with endometriosis in south Indian women.
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  Biochemistry and molecular biology laboratories.
  
  
  METHODS
  Women with (n = 152) and without (n = 150) endometriosis of south Indian origin.
  
  
  METHODS
  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).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Biochemistry, Osmania University, Hyderabad, India.
authors.forename: Suresh
authors.initials: S
authors.lastname: Govatati
authors.forename: Mamata
authors.initials: M
authors.lastname: Deenadayal
authors.forename: Sisinthy
authors.initials: S
authors.lastname: Shivaji
authors.forename: Manjula
authors.initials: M
authors.lastname: Bhanoori
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000032:analysis*; D004715:Endometriosis / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007194:India; D015810:Linkage Disequilibrium; D009154:Mutation; D016017:Odds Ratio; D010641:Phenotype; D010865:Pilot Projects; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011379:Prognosis; D012307:Risk Factors; D014463:Ultrasonography; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial