title: High-resolution array-comparative genomic hybridization profiling reveals 20q13.33 alterations associated with ovarian endometriosis.
abstract: OBJECTIVE
  The purpose of this study is to investigate the potential genetic alterations at DNA level in patients with ovarian endometriosis by high-resolution array-based comparative genomic hybridization (array-CGH) analysis.
  
  
  METHODS
  Following the laparoscopic surgical and the post-operative pathological examination, genomic DNA was extracted from endometriomas of 11 women with endometriosis and endometrial tissue of the controls and analyzed by array-CGH. Real-time PCR was used for confirmation the result of array-CGH analysis and detected the DNA copy number variations of the eutopic endometrium from the five patients with the duplication in 20q13.33 region.
  
  
  RESULTS
  All 11 patients with ovarian endometriosis were diagnosed through the laparoscopic surgical and the post-operative pathological examination. We found occurrence of genomic duplication at 20q13.33 chromosomal region with gain of GATA5 and SLCO4A1 genes in 5 of 11 endometriomas from patients.
  
  
  CONCLUSIONS
  The results of the present study suggest that there was 20q13.33 duplication in women with ovarian endometriosis. This effect might be due to the alterations of GATA5 and SLCO4A1 genes in the gain region, through involving the metabolism of the steroid hormone.
authors: Department of Obstetrics and Gynecology, Xiangya Hospital of Central South University, Changsha, China.
authors: Wenqing
authors: W
authors: Yang
authors: Yi
authors: Y
authors: Zhang
authors: Fang
authors: F
authors: Fu
authors: Ru
authors: R
authors: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000706:statistics & numerical data; D016022:Case-Control Studies; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods; D056915:DNA Copy Number Variations; D004715:Endometriosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020869:Gene Expression Profiling / Q000379:methods; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009030:Mosaicism / Q000706:statistics & numerical data; D010049:Ovarian Diseases / Q000453:epidemiology / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult