DNA methylation analysis of anti-mullerian hormone gene in ovarian granulosa cells in PCOS patients

Polycystic ovary syndrome (PCOS) is defined as a complex hormonal disorder that is commonly found in reproductive-age women. The pathogenesis and etiology of PCOS have not been fully understood. It is strongly believed that PCOS is caused by the interaction of numerous complex factors, both environmental and genetic. One factor that is known to play a role in the pathogenesis of PCOS is an increase in anti-Mullerian hormone (AMH). In this study, we analyzed the methylation levels of the AMH gene as it relates to elevation of AMH levels in PCOS patients. In this cross-sectional study we used MSP-PCR method to amplify the DNA samples, which are obtained from the granulosa cells of 13 women with PCOS and 9 women without PCOS. The methylation levels then measured using ImageJ software. We found that there was a statistically significant difference between the methylation percentage of DNA from patients in the PCOS group compared to the control group, (p = 0.001). The PCOS group had a lower methylation percentage compared with the normal group. Our results suggest that a decreased methylation level of the AMH gene may cause an increase in AMH concentration in ovarian follicles and has a correlation with the pathogenesis of PCOS. AMH methylation level could therefore be used as a biomarker for diagnosis of PCOS.