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. 2014 Aug 30;5(16):6603-10.
doi: 10.18632/oncotarget.2224.

Genome-wide DNA methylation and gene expression patterns provide insight into polycystic ovary syndrome development

Xiu-Xia Wang  1 , Jing-Zan Wei  1 , Jiao Jiao  1 , Shu-Yi Jiang  1 , Da-Hai Yu  1 , Da Li  1
Affiliations

Genome-wide DNA methylation and gene expression patterns provide insight into polycystic ovary syndrome development

Xiu-Xia Wang et al. Oncotarget. .

Abstract

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women. However, the epigenetic mechanism involved in PCOS progression remains largely unknown. Here, combining the DNA methylation profiling together with transcriptome analysis, we showed that (i) there were 7929 differentially methylated CpG sites (β > 0.1, P < 0.05) and 650 differential transcripts (fold change > 1.5, P < 0.005) in PCOS compared to normal ovaries; (ii) 54 genes were identified with methylated levels that were correlated with gene transcription in PCOS; and (iii) there were less hypermethylated sites, but many more hypomethylated sites residing in CpG islands and N_Shore in PCOS. Among these genes, we identified that several significant pathways, including the type I diabetes mellitus pathway, p53 signaling pathway and NOD-like receptor signaling pathway, and some immune and inflammatory diseases may be highly involved in PCOS development. These results suggested that differences in genome-wide DNA methylation and expression patterns exist between PCOS ovaries and normal ovaries; epigenetic mechanisms may in part be responsible for the different gene expression and PCOS phenotype. All of this may improve our understanding of the basic molecular mechanism underlying the development of PCOS.

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Conflict of interest statement

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig 1
Fig 1. Characteristic methylation patterns between PCOS ovaries and normal ovaries
A, Percentage of equally or differentially methylated CpG sites. B, Percentage of hypermethylated or hypomethylated CpG sites. C, Hypermethylated annotation of differentially methylated CpG sites. D, Hypomethylated annotation of differentially methylated CpG sites.
Fig 2
Fig 2. GO analysis of the differentially methylated and expressed genes
A, GO analysis of differential methylated genes (β > 0.1, P < 0.05). B, GO analysis of differential expressed genes (fold change > 1.5, P < 0.005). X axis, negative logarithm (-lg) of the p value; Y axis, GO category. The top 10 GO terms were shown if there were more than 10 terms.
Fig 3
Fig 3. KEGG analysis of the differentially methylated and expressed genes
A, KEGG analysis of differential methylated genes (β > 0.1, P < 0.05). B, KEGG analysis of differential expressed genes (fold change > 1.5, P < 0.005). Y axis, negative logarithm (-lg) of the p value; X axis, KEGG category. The top 10 KEGG terms were shown if there were more than 10 terms.
Fig 4
Fig 4. Chromosome graph of differentially methylated genes correlated with gene transcription
54 genes exhibited a significant correlation between DNA methylation and gene expression levels, which were located at different chromosome (chr) positions.
See this image and copyright information in PMC

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