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

Niraj Joshi, Hamid‐Reza Kohan‐Ghadr, Roqueiro DS, Damian Roqueiro, Damian S Roqueiro, Jung‐Yoon Yoo, Jung Yoon Yoo, Fru K, Karenne Fru, K.N. Fru, Eli V. Hestermann, Hestermann E, Eli Hestermann, Lingwen Yuan, Yuan L, Shuk-Mei Ho, Ho SM, Shuk‐Mei Ho, Jeong JW, Jae-Wook Jeong, Jae‐Wook Jeong, Steven L. Young, Lessey BA, Bruce A. Lessey, Asgerally T Fazleabas
Molecular human reproduction · 2021 · vol. 27(6) · doi:10.1093/molehr/gaab018 · PMID:33693877 · PMC8178932 · W3134215747
article OA: green CC0 ⤵ 12 in-corpus citations
📄 Open PDF Full text JSON View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-07 ⓘ

This study found genetic and epigenetic alterations in the eutopic endometrium of women with low integrin αvβ3 expression and endometriosis, identifying potential diagnostic markers like aryl hydrocarbon receptor.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 · read from full text ⓘ

This study examined genetic and epigenetic differences in mid-secretory eutopic endometrium from healthy controls and women with endometriosis categorized by low versus high endometrial integrin αvβ3 (LEI vs HEI) expression. Using human gene expression arrays and 385K promoter DNA methylation arrays, the authors found that LEI and control samples formed separate transcriptional clusters, with 396 differentially expressed genes distinguishing LEI from controls, while HEI comparisons yielded fewer differentially expressed genes. Promoter methylation analysis identified 1304 differentially methylated regions in LEI versus controls, and integrating methylation and gene expression data highlighted 14 epigenetically dysregulated genes, with AHR hypomethylated and overexpressed in LEI, validated at transcript and protein levels. The study is limited by the very small group sizes (n=3 for controls and n=4 for each endometriosis subgroup). This paper is centrally about endometriosis — it analyzes eutopic endometrial genetic/epigenetic alterations linked to decreased integrin αvβ3 expression in endometriosis-associated infertility.

Read from the paper's body, not the abstract. Not a substitute for reading the paper. No clinical advice. How this works

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.
Full text 3,443 characters · extracted from oa-html · click to expand
YUHASpace Repository 0 457 Cited 0 times in Cited 19 times in Genetic and epigenetic changes in the eutopic endometrium of women with endometriosis: association with decreased endometrial αvβ3 integrin expression - Authors - Niraj R Joshi ; Hamid-Reza Kohan-Ghadr ; Damian S Roqueiro ; Jung Yoon Yoo ; Karenne Fru ; Eli Hestermann ; Lingwen Yuan ; Shuk-Mei Ho ; Jae-Wook Jeong ; Steven L Young ; Bruce A Lessey ; Asgerally T Fazleabas - Citation - MOLECULAR HUMAN REPRODUCTION, Vol.27(6) : gaab018, 2021-05 - Journal Title - MOLECULAR HUMAN REPRODUCTION - ISSN - 1360-9947 - Issue Date - 2021-05 - MeSH - Adolescent ; Adult ; Basic Helix-Loop-Helix Transcription Factors / biosynthesis ; Basic Helix-Loop-Helix Transcription Factors / genetics ; Biopsy ; DNA Methylation* ; Down-Regulation ; Endometriosis / complications ; Endometriosis / genetics* ; Endometriosis / metabolism ; Endometrium / metabolism* ; Endometrium / pathology ; Female ; Humans ; Infertility, Female / etiology* ; Infertility, Female / genetics ; Integrin alphaVbeta3 / biosynthesis* ; Integrin alphaVbeta3 / genetics ; Middle Aged ; Principal Component Analysis ; Receptors, Aryl Hydrocarbon / biosynthesis ; Receptors, Aryl Hydrocarbon / genetics ; Transcriptome* ; Young Adult - Keywords - aryl hydrocarbon receptor ; endometriosis ; epigenetics ; eutopic endometrium ; gene expression ; infertility ; integrin αvβ3 ; methylation - 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. - Appears in Collections: - 1. College of Medicine (의과대학) > Dept. of Biochemistry and Molecular Biology (생화학-분자생물학교실) > 1. Journal Papers - Yonsei Authors - Yoo, Jung Yoon(유정윤) https://orcid.org/0000-0001-9366-3863 Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Text is read by the "Ask this paper" AI Q&A widget below. Extraction quality varies by source — PMC NXML preserves structure cleanly, OA-HTML may include some navigation residue, and OA-PDF can have broken hyphenation. The publisher copy (via DOI) is the canonical version.

My notes (saved in your browser only)

⚙ Ask this paper AI returns verbatim quotes from the full text · source: oa-html ⓘ

Answers must be backed by verbatim quotes from this paper's full text. Hallucinated quotes are dropped automatically; if no verbatim passage answers the question, we say so. How this works

Condition tags

endometriosisinfertility

MeSH descriptors

DNA Methylation Endometriosis Endometrium Infertility, Female Integrin alphaVbeta3 Transcriptome Adolescent Adult Basic Helix-Loop-Helix Proteins Basic Helix-Loop-Helix Proteins Basic Helix-Loop-Helix Proteins Biopsy Down-Regulation Endometriosis Endometriosis Endometriosis Endometrium Endometrium Female Humans

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (100)

Cited by (13)

Source provenance

europepmc
last seen: 2026-08-17T06:11:01.428247+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-05-13T22:24:49.034193+00:00
License: CC0 · commercial use OK