Genetic and epigenetic changes in the eutopic endometrium of women with endometriosis: association with decreased endometrial αvβ3 integrin expression

Joshi, Niraj R., Kohan-Ghadr, Hamid-Reza, Roqueiro, Damian S., Yoo, Jung Y., Fru, Karenne, Hestermann, Eli, Yuan, Lingwen, Ho, Shuk-Mei, Jeong, Jae-Wook, Young, Steven L, Lessey, Bruce A., Fazleabas, Asgerally T.
2021 · doi:10.3929/ethz-c-000490462 · W7081117818
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This study investigated genetic and epigenetic alterations in the eutopic endometrium of women with endometriosis by comparing mid-secretory biopsies from healthy controls against patients with high and low integrin αvβ3 expression. Transcriptional and methylation analyses revealed distinct clusters, identifying 396 differentially expressed genes and over 1,300 differentially methylated regions primarily in the low-integrin group, which also showed significant hypomethylation and overexpression of the aryl hydrocarbon receptor. The researchers concluded that these specific molecular changes, particularly the elevated AHR levels, could serve as potential diagnostic markers for identifying endometriosis-associated infertility. This paper is centrally about endometriosis — specifically examining how epigenetic dysregulation in the eutopic endometrium correlates with integrin expression and infertility outcomes.

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Abstract

About 40% of women with infertility and 70% of women with pelvic pain suffer from endometriosis. The pregnancy rate in women undergoing IVF with low endometrial integrin αvβ3 (LEI) expression is significantly lower compared to the women with high endometrial integrin αvβ3 (HEI). Mid-secretory eutopic endometrial biopsies were obtained from healthy controls (C; n=3), and women with HEI (n=4) and LEI (n=4) and endometriosis. Changes in gene expression were assessed using human gene arrays and DNA methylation data were derived using 385 K Two-Array Promoter Arrays. Transcriptional analysis revealed that LEI and C groups clustered separately with 396 differentially expressed genes (DEGs) (P<0.01: 275 up and 121 down) demonstrating that transcriptional and epigenetic changes are distinct in the LEI eutopic endometrium compared to the C and HEI group. In contrast, HEI vs C and HEI vs LEI comparisons only identified 83 and 45 DEGs, respectively. The methylation promoter array identified 1304 differentially methylated regions in the LEI vs C comparison. The overlap of gene and methylation array data identified 14 epigenetically dysregulated genes and quantitative RT–PCR analysis validated the transcriptomic findings. The analysis also revealed that aryl hydrocarbon receptor (AHR) was hypomethylated and significantly overexpressed in LEI samples compared to C. Further analysis validated that AHR transcript and protein expression are significantly (P<0.05) increased in LEI women compared to C. The increase in AHR, together with the altered methylation status of the 14 additional genes, may provide a diagnostic tool to identify the subset of women who have endometriosis-associated infertility.
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Abstract

About 40% of women with infertility and 70% of women with pelvic pain suffer from endometriosis. The pregnancy rate in women undergoing IVF with low endometrial integrin αvβ3 (LEI) expression is significantly lower compared to the women with high endometrial integrin αvβ3 (HEI). Mid-secretory eutopic endometrial biopsies were obtained from healthy controls (C; n=3), and women with HEI (n=4) and LEI (n=4) and endometriosis. Changes in gene expression were assessed using human gene arrays and DNA methylation data were derived using 385 K Two-Array Promoter Arrays. Transcriptional analysis revealed that LEI and C groups clustered separately with 396 differentially expressed genes (DEGs) (P<0.01: 275 up and 121 down) demonstrating that transcriptional and epigenetic changes are distinct in the LEI eutopic endometrium compared to the C and HEI group. In contrast, HEI vs C and HEI vs LEI comparisons only identified 83 and 45 DEGs, respectively. The methylation promoter array identified 1304 differentially methylated regions in the LEI vs C comparison. The overlap of gene and methylation array data identified 14 epigenetically dysregulated genes and quantitative RT–PCR analysis validated the transcriptomic findings. The analysis also revealed that aryl hydrocarbon receptor (AHR) was hypomethylated and significantly overexpressed in LEI samples compared to C. Further analysis validated that AHR transcript and protein expression are significantly (P<0.05) increased in LEI women compared to C. The increase in AHR, together with the altered methylation status of the 14 additional genes, may provide a diagnostic tool to identify the subset of women who have endometriosis-associated infertility. Permanent link Publication status published External links Editor Book title Journal / series Volume 27 (6) Pages / Article No. gaab018 Publisher Oxford University Press Event Edition / version

Methods

Geographic location Date collected Date created Subject integrin αvβ3; endometriosis; epigenetics; gene expression; infertility; eutopic endometrium; aryl hydrocarbon receptor; methylation Organisational unit Notes It was possible to publish this article open access thanks to a Swiss National Licence with the publisher.

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endometriosisinfertility

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