Jae Yen Song
The Catholic University of Korea,South Korea
Title: Copy number variation in pelvic endometriosis
Biography
Biography: Jae Yen Song
Abstract
Samples consisting of 673 controls and 65 patients with Stage Ⅲ,Ⅳ endometriosis were used. The average age of subjects was 41.2 ± 11.6 in controls, 35.2 ± 8.0 in patients with Stage Ⅲ endometriosis and 34.5 ± 8.3 in patients with Stage Ⅳ. In CNVR of 1q21.3, there was no coding gene and the frequency of copy number loss CNVs was significantly lower in endometriosis patients compared to controls (p<0.028). In CNVR of 1p13.3, GSTM1 gene was positioned and the frequency of copy number gain CNVs was significantly higher in endometriosis patients than controls (p<0.038). It was found through Genomic qPCR that 1q21.3 CNVs had a significant difference in an independent replication set as well. While 20 out of 42 controls had deletion with the intensity ratio of 0.5 or less, only 9 out of 37 patients showed deletion (p=0.032). The average signal intensity ratio of controls was also lower than that of cases (0.6 versus 0.8). When it comes to CNVR 1p13.3, the average signal intensity ratio of patients was higher than that of controls (3.7 versus 3.0) and the frequency of copy number gains (intensity ratio ≥ 2) was higher in patient group (19 out of 37) than control group (16 out of 42). However, there was no statistical significance (p=0.235). This study identified two CNVRs for endometriosis. 1q21.3 and 1p13.3 could be a potential target for screening and diagnosis of pelvic endometriosis.