Altered Genome-Wide Methylation in Endometriosis

Naqvi H, Hanyia Naqvi, Ilagan Y, Ysabel Ilagan, Krikun G, Graciela Krikun, Hugh S. Taylor
Reproductive sciences (Thousand Oaks, Calif.) · 2014 · vol. 21(10) , pp. 1237–1243 · doi:10.1177/1933719114532841 · PMID:24784717 · PMC5933183 · W2050152897
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This study used a genome-wide methylation array to find 120 differentially methylated genes in the endometrium of women with endometriosis compared to controls.

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This paper investigated genome-wide DNA methylation differences in eutopic endometrium from women with and without endometriosis using a genome-wide methylation array, identifying 120 genes altered by more than 1.5-fold, with 59 hypermethylated and 61 hypomethylated. The study validated methylation-associated gene expression changes using quantitative real-time PCR. A limitation explicitly noted is that only a limited number of candidate genes showed selective methylation, while many other genes were aberrantly methylated and expressed without prior endometriosis association. The paper’s findings relate to endometriosis by demonstrating altered methylation and expression in the eutopic endometrium of women with endometriosis and listing specific aberrantly methylated genes as potential contributors to abnormal endometrial proliferation and function. This paper is centrally about endometriosis — altered genome-wide methylation in eutopic endometrium.

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Abstract

Endometriosis has been associated with aberrant methylation in the eutopic endometrium. Using a genome-wide methylation array, we identified differentially methylated genes in the endometrium from women with or without endometriosis. One hundred and twenty genes were significantly altered by >1.5-fold. In all, 59 genes were significantly hypermethylated and 61 genes were significantly hypomethylated. Changes in gene expression associated with the altered methylation status were validated using quantitative real-time polymerase chain reaction. A limited number of candidate genes are selectively methylated in the endometrium of women with endometriosis. Several genes not previously associated with endometriosis are aberrantly methylated and expressed. These include O-6-methylguanine-DNA methyltransferase, dual specificity phosphatase 22, cell division cycle associated 2, inhibitor of DNA binding 2, retinoblastoma binding protein 7, bone morphogenetic protein receptor, type 1B, tumor necrosis factor receptor 1B, zinc finger protein receptor 681, immunoglobulin superfamily, member 21, and tumor protein 73. Aberrant DNA methylation and gene expression of these genes may contribute to abnormal regulation of endometrial cell proliferation and function in women.
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Abstract

Endometriosis has been associated with aberrant methylation in the eutopic endometrium. Using a genome-wide methylation array, we identified differentially methylated genes in the endometrium from women with or without endometriosis. One hundred and twenty genes were significantly altered by >1.5-fold. In all, 59 genes were significantly hypermethylated and 61 genes were significantly hypomethylated. Changes in gene expression associated with the altered methylation status were validated using quantitative real-time polymerase chain reaction. A limited number of candidate genes are selectively methylated in the endometrium of women with endometriosis. Several genes not previously associated with endometriosis are aberrantly methylated and expressed. These include O-6-methylguanine-DNA methyltransferase, dual specificity phosphatase 22, cell division cycle associated 2, inhibitor of DNA binding 2, retinoblastoma binding protein 7, bone morphogenetic protein receptor, type 1B, tumor necrosis factor receptor 1B, zinc finger protein receptor 681, immunoglobulin superfamily, member 21, and tumor protein 73. Aberrant DNA methylation and gene expression of these genes may contribute to abnormal regulation of endometrial cell proliferation and function in women. Similar content being viewed by others

References

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endometriosis

MeSH descriptors

DNA Methylation Endometriosis Endometriosis Epigenesis, Genetic Genome-Wide Association Study DNA Methylation Endometriosis Epigenesis, Genetic Female Genome-Wide Association Study Humans

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