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. 2022 Jan 26;11(3):612.
doi: 10.3390/jcm11030612.

Salivary MicroRNA Signature for Diagnosis of Endometriosis

Affiliations

Salivary MicroRNA Signature for Diagnosis of Endometriosis

Sofiane Bendifallah et al. J Clin Med. .

Abstract

Background: Endometriosis diagnosis constitutes a considerable economic burden for the healthcare system with diagnostic tools often inconclusive with insufficient accuracy. We sought to analyze the human miRNAome to define a saliva-based diagnostic miRNA signature for endometriosis.

Methods: We performed a prospective ENDO-miRNA study involving 200 saliva samples obtained from 200 women with chronic pelvic pain suggestive of endometriosis collected between January and June 2021. The study consisted of two parts: (i) identification of a biomarker based on genome-wide miRNA expression profiling by small RNA sequencing using next-generation sequencing (NGS) and (ii) development of a saliva-based miRNA diagnostic signature according to expression and accuracy profiling using a Random Forest algorithm.

Results: Among the 200 patients, 76.5% (n = 153) were diagnosed with endometriosis and 23.5% (n = 47) without (controls). Small RNA-seq of 200 saliva samples yielded ~4642 M raw sequencing reads (from ~13.7 M to ~39.3 M reads/sample). Quantification of the filtered reads and identification of known miRNAs yielded ~190 M sequences that were mapped to 2561 known miRNAs. Of the 2561 known miRNAs, the feature selection with Random Forest algorithm generated after internally cross validation a saliva signature of endometriosis composed of 109 miRNAs. The respective sensitivity, specificity, and AUC for the diagnostic miRNA signature were 96.7%, 100%, and 98.3%.

Conclusions: The ENDO-miRNA study is the first prospective study to report a saliva-based diagnostic miRNA signature for endometriosis. This could contribute to improving early diagnosis by means of a non-invasive tool easily available in any healthcare system.

Keywords: diagnostic; endometriosis; miRNA; saliva; signature.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Flow chart of ENDO-miRNA study.
Figure 2
Figure 2
Overall composition of processed reads. RNA reads, miRNAs + piRNAs + rRNAs + tRNAs + mRNAs + others; Filtered Reads, reads with no adapters + reads with low quality bases + reads too short; Not Characterized/Mappable reads, mapped reads to GRCh38 that could not be characterized as a particular type; Not Characterized/Not Mappable reads, reads that could not be mapped.

Comment in

  • Excerpts from the World Medical Literature.
    Ziegler C. Ziegler C. J Obstet Gynaecol Can. 2022 Dec;44(12):1244-1246. doi: 10.1016/j.jogc.2022.09.008. J Obstet Gynaecol Can. 2022. PMID: 36567091 No abstract available.
  • [La littérature médicale mondiale].
    Ziegler C. Ziegler C. J Obstet Gynaecol Can. 2022 Dec;44(12):1247-1250. doi: 10.1016/j.jogc.2022.10.004. J Obstet Gynaecol Can. 2022. PMID: 36567092 French. No abstract available.

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