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Steroid synthesis and metabolic pathways play important roles in the pathophysiology of PCOS, but until now there have been no studies on the methylation profiles of specific genes in steroid synthesis pathways that are known to be associated with PCOS. Here we used MassARRAY quantitative methylation analysis to determine the methylation levels of each CpG site or cluster in the promoters of  EPHX1 ,  SRD5A1 , and  CYP11A1  in 64 peripheral blood samples. We further examined the methylation level of  EPHX1  in an independent cohort consisting of 116 people. Finally, we investigated the role of  EPHX1  in steroidogenesis in the KGN cell line. For  SRD5A1  and  CYP11A1 , there was no significant difference in methylation level between patients and controls. For  EPHX1 , however, the methylation levels of a few consecutive CpG sites and clusters were found to be significantly associated with PCOS. The methylation levels of a number of CpG clusters or sites were significantly lower in patients than in controls in the first cohort consisting of 64 people, such as clusters 13–14 ( P <0.05), 15–16 ( P <0.001), and 19–24 ( P <0.001) and sites CpG_53 ( P <0.01) and CpG_54 ( P <0.05). Among differentiated methylation sites and clusters, the methylation levels of the CpG cluster 13–14 and CpG cluster 19–24 in PCOS patients were significantly lower than in controls in the second cohort of 116 people ( P <0.05 for both). In addition, knockdown and overexpression experiments in KGN cells showed that  EPHX1  can regulate estradiol concentrations, and this indicates a role for  EPHX1  in steroidogenesis. Our study has demonstrated that methylation of the  EPHX1  promoter might be associated with PCOS. This study provides direct evidence that methylation plays an important role in PCOS and demonstrates a novel role for  EPHX1  in female reproduction.

Quantitative Methylation Level of the EPHX1 Promoter in Peripheral Blood DNA Is Associated with Polycystic Ovary Syndrome