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OMICs Studies and Endometriosis Biomarker Identification

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Biomarkers for Endometriosis

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Abstract

The fast development and capabilities of high-throughput ‘omics’ technologies have provided new insights into the complexity of endometriosis and enabled the identification of novel diagnostic biomarkers. In this chapter, we take a closer look at high-throughput genomics, transcriptomics, epigenomics, proteomics, and metabolomics studies applied in endometriosis research. We summarise the existing information concerning ‘omics’ studies applied to blood, endometrium, endometriotic lesions, and body fluids in order to describe the potential disease-specific biomarkers. Also, we discuss the importance of sample collection, proper study design, data processing, and analysis in high-throughput studies. And finally, future perspectives in endometriosis biomarker research will be provided.

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Abbreviations

aCGH:

Array-based comparative genomic hybridization

CNV:

Copy number variation

CpG:

C-phosphate-G-site

2D-DIGE:

Two-dimensional difference gel electrophoresis

ESI-MS/MS:

Electrospray ionisation tandem mass spectrometry

GWAS:

Genome wide association study

H-NMR spectroscopy:

Proton nuclear magnetic resonance spectroscopy

LCM:

Laser capture microdissection

lncRNA:

Long non-coding RNA

MALDI-TOF-MS:

Matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry

miRNome:

Full spectrum of expressed miRNAs

NMR:

Nuclear magnetic resonance spectroscopy

SCNA:

Somatic copy number alteration

SELDI-TOF-MS:

Surface-enhanced laser desorption/ionisation time-of-flight mass spectrometry

SNP:

Single nucleotide polymorphism

WERF EPHect:

World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonisation Project

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Authors and Affiliations

  1. Competence Centre on Health Technologies, Tartu, Estonia

    Merli Saare, Maire Peters, Triin Laisk-Podar, Andres Salumets & Signe Altmäe

  2. Institute of Clinical Medicine, Department of Obstetrics and Gynecology, University of Tartu, Tartu, Estonia

    Merli Saare, Maire Peters, Alar Aints, Triin Laisk-Podar & Andres Salumets

  3. Institute of Bio- and Translational Medicine, University of Tartu, Tartu, Estonia

    Andres Salumets

  4. Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

    Andres Salumets

  5. Department of Biochemistry and Molecular Biology I, Faculty of Sciences & Center for Genomics and Oncology Research (GenyO), University of Granada, 18071, Granada, Spain

    Signe Altmäe

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    Thomas D'Hooghe

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Saare, M., Peters, M., Aints, A., Laisk-Podar, T., Salumets, A., Altmäe, S. (2017). OMICs Studies and Endometriosis Biomarker Identification. In: D'Hooghe, T. (eds) Biomarkers for Endometriosis. Springer, Cham. https://doi.org/10.1007/978-3-319-59856-7_12

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