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21 March 2018 DNA methylation alterations—potential cause of endometriosis pathogenesis or a reflection of tissue heterogeneity?
Merli Saare, Kertu Liis Krigul, Triin Laisk-Podar, Sakthivignesh Ponandai-Srinivasan, Nilufer Rahmioglu, Parameswaran Grace Lalit Kumar, Krina Zondervan, Andres Salumets, Maire Peters
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Abstract

Alterations in the DNA methylation pattern of endometriotic lesions and endometrium of endometriosis patients have been proposed as one potential factor accompanying the endometriosis development. Although many differentially methylated genes have been associated with the pathogenesis of this disease, the overlap between the results of different studies has remained small. Among other potential confounders, the impact of tissue heterogeneity on the outcome of DNA methylation studies should be considered, as tissues are mixtures of different cell types with their own specific DNA methylation signatures. This review focuses on the results of DNA methylation studies in endometriosis from the cellular heterogeneity perspective. We consider both the studies using highly heterogeneous whole-lesion biopsies and endometrial tissue, as well as pure cell fractions isolated from lesions and endometrium to understand the potential impact of the cellular composition to the results of endometriosis DNAmethylation studies. Also, future perspectives on how to diminish the impact of tissue heterogeneity in similar studies are provided.

Summary Sentence

Cellular heterogeneity of endometriotic lesions and endometrial biopsies has significant impact on the results of DNA methylation studies in endometriosis.

© The Author(s) 2018. Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com
Merli Saare, Kertu Liis Krigul, Triin Laisk-Podar, Sakthivignesh Ponandai-Srinivasan, Nilufer Rahmioglu, Parameswaran Grace Lalit Kumar, Krina Zondervan, Andres Salumets, and Maire Peters "DNA methylation alterations—potential cause of endometriosis pathogenesis or a reflection of tissue heterogeneity? ," Biology of Reproduction 99(2), 273-282, (21 March 2018). https://doi.org/10.1093/biolre/ioy067
Received: 5 February 2018; Accepted: 20 March 2018; Published: 21 March 2018
JOURNAL ARTICLE
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