Large-Scale Integrated Genome-Wide RNA Sequencing, miRNA Array, and Genomic Analyses to Unravel the Functionality of Genome-Wide Association Results in Endometriosis.

2017 · vol. 24 · W2762987037
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AI-generated summary by gemini-2.5-flash-lite, 2026-07-09

This study integrated genomic, RNA sequencing, and miRNA array data from endometriosis cases and controls to investigate how genetic variants influence transcriptomic profiles in endometrial and fat tissues.

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The paper investigates how genetic variants associated with endometriosis affect transcriptomic profiles by integrating genome-wide association findings with large-scale RNA sequencing and miRNA array data. Using endometrium, fat, and endometrial disease tissues from 190 endometriosis cases and 90 controls, the authors performed transcriptome-wide analyses to characterize functional consequences of ten genome-wide significant loci that are often located in intergenic regions. A major caveat is that the excerpted material does not provide detailed results, effect sizes, or limitations beyond the study description. This paper is centrally about endometriosis—analyzing how endometriosis risk loci perturb transcriptomes across endometrial, adipose, and disease tissues.

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Abstract

Around 50% of endometriosis risk is due to genetic factors. Ten genome-wide significant loci have been associated with endometriosis, but most are located in intergenic regions of the genome. To understand how transcriptomic profiles are perturbed by genetic variants, we conducted a transcriptome-wide study of endometrium, fat and endometrial disease tissue from 190 endometriosis cases and 90 controls.
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Conference item Large-scale integrated genome-wide RNA sequencing, miRNA array, and genomic analyses to unravel the functionality of genome-wide association results in endometriosis - Abstract: - Around 50% of endometriosis risk is due to genetic factors. Ten genome-wide significant loci have been associated with endometriosis, but most are located in intergenic regions of the genome. To understand how transcriptomic profiles are perturbed by genetic variants, we conducted a transcriptome-wide study of endometrium, fat and endometrial disease tissue from 190 endometriosis cases and 90 controls. - Publication status: - Published - Peer review status: - Peer reviewed Actions Access Document - Files: - - (Preview, Accepted manuscript, pdf, 100.7KB, Terms of use) - - Publisher copy: - 10.1177/1933719117699773 Authors - Publisher: - SAGE Publications - Host title: - 64th Annual Meeting of the Society for Reproductive Investigation (SRI 2017) - Journal: - 64th Annual Meeting of the Society for Reproductive Investigation (SRI 2017) More from this journal - Publication date: - 2017-03-01 - Acceptance date: - 2017-01-06 - DOI: - Pubs id: - pubs:718598 - UUID: - uuid:b05bc0b8-cc3f-4e37-b170-93a7646cc6df - Local pid: - pubs:718598 - Source identifiers: - 718598 - Deposit date: - 2018-06-19 - ARK identifier: Terms of use - Copyright holder: - Society for Reproductive Investigation - Copyright date: - 2017 - Notes: - Copyright © 2018 by Society for Reproductive Investigation. This is the accepted manuscript version of the article. The final version is available online from SAGE Publications at: https://doi.org/10.1177/1933719117699773 If you are the owner of this record, you can report an update to it here: Report update to this record

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endometriosis

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