Loss of Heterozygosity in Endometriosis

Objective : Endometriosis is a very common gynecological condition in which tissue similar to endometrium proliferates at sites outside the uterine cavity. Although it generally remain a benign condition, malignant transformation has been documented, and it is commonly found in association with endometrioid subtype ovarian carcinoma. In order to identify the genomic change in those areas possibly involved in the pathogenesis of endometriosis, we performed LOH analysis. Methods : Twenty seven cases of endometriosis were analyzed for the detection of LOH using 5 microsatellite markers. LOH analysis was performed by PCR, capillary electrophoresis and gene scan analysis using DNA from sections of tumor and normal tissue pairs. Results : Twenty two of 27 (81.5%) cases demonstrated LOH at one or more loci. The frequency of LOH was 37.0% (D18S69), 25.9% (D22S274), 14.8% (D22S283), 7.4% (D6S286), 7.4% (D13S160). Conclusion : The frequencies of LOH was increased in higher stage of endometriosis. Most notable findings were found at chromosome 18 and 22 loci (D18S69, D22S274). These region might involve the some candidate genes closely related with the pathogenesis of endometriosis.