Genome‐wide analysis of DNA methylation in endometriosis using Illumina Human Methylation 450 K BeadChips

Lixian Wang, Jian Zhao, Yan Li, Zihe Wang, Shan Kang
Molecular reproduction and development · 2019 · vol. 86(5) , pp. 491–501 · doi:10.1002/mrd.23127 · PMID:30740831 · W2911408767
article OA: closed CC0 ⤵ 24 in-corpus citations
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This study analyzed genome-wide DNA methylation in endometriosis lesions and endometria, identifying thousands of differentially methylated CpG sites and promoter regions associated with immune and inflammatory responses.

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Abstract

Endometriosis is a common chronic gynecologic disorder characterized by the presence and growth of endometrial-like tissue outside of the uterine cavity. Although the exact etiology remains unclear, epigenetic modifications, such as DNA methylation, are thought to contribute to the pathogenesis of endometriosis. Here, we used the Illumina Human Methylation 450 K BeadChip Array to analyze the genome-wide DNA methylation profiles of six endometriotic lesions and six eutopic endometria from patients with ovarian endometriosis and six endometria of women without endometriosis. Compared with the eutopic endometria of women with endometriosis, 12,159 differentially methylated CpG sites and 375 differentially methylated promoter regions were identified in endometriotic lesions. GO analyses showed that these putative differentially methylated genes were primarily associated with immune response, inflammatory response, response to steroid hormone stimulus, cell adhesion, negative regulation of apoptosis, and activation of the MAPK activity. In addition, the expression levels of DNMT1, DNMT3A, DNMT3B, and MBD2 in endometriotic lesions and eutopic endometria were significantly decreased compared with control endometria. Our findings suggest that aberrant DNA methylation status in endometriotic lesions may play a significant role in the pathogenesis and progression of endometriosis.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

DNA Methylation Endometriosis Endometriosis Endometriosis Epigenesis, Genetic Oligonucleotide Array Sequence Analysis Adult DNA-Binding Proteins DNA-Binding Proteins DNA-Binding Proteins DNA (Cytosine-5-)-Methyltransferases DNA (Cytosine-5-)-Methyltransferases DNA (Cytosine-5-)-Methyltransferases DNA Methylation Epigenesis, Genetic Female Humans Oligonucleotide Array Sequence Analysis

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