Plasma miRNAs as biomarkers for endometriosis

摘要: STUDY QUESTION Can plasma miRNAs be used for the non-invasive diagnosis of endometriosis in infertile women? SUMMARY ANSWER miRNA-based diagnostic models failed test independent validation. WHAT IS KNOWN ALREADY Circulating have been described to differentially expressed patients with compared women without endometriosis, suggesting that they could endometriosis. However, these studies shown limited consistency or conflicting results, and no has validated an patient cohort. DESIGN, SIZE, DURATION We performed genome-wide miRNA expression profiling by small RNA sequencing identify a set discriminative potential between Expression this was confirmed RT-qPCR. Diagnostic were built using multivariate logistic regression stepwise feature selection. In final step, tested validation PARTICIPANTS/MATERIALS, SETTINGS, METHODS Plasma all available biobank Leuven Endometriosis Centre Excellence. Biomarker discovery model development cohort 120 (controls = 38, endometriosis = 82), 90 (controls = 30, endometriosis = 60). extracted miRNeasy Kit. Genome-wide analysis done NEBNext library prep kit NextSeq 500 System. cDNA synthesis qPCR Qiagen miScript technology. MAIN RESULTS AND THE ROLE OF CHANCE identified 42 power based on profiling. 41 RT-qPCR, 3 built. Only minimal-mild (Model 2: hsa-miR-125b-5p, hsa-miR-28-5p hsa-miR-29a-3p) had above chance performance (AUC = 60%) acceptable sensitivity (78%) but poor specificity (37%). LIMITATIONS, REASONS FOR CAUTION The two cohorts from single tertiary centre. Further tests large multiple centres are needed. WIDER IMPLICATION FINDINGS Our study supports possible biological link certain as clinically useful biomarkers is questionable infertility. Large well-described cohorts, rigorous methodology analysis, sufficient statistical necessary answer question whether can diagnostics markers FUNDING/COMPETING INTEREST(S) project funded grant Research Foundation - Flanders (FWO). A.V., D.F.O. D.P. PhD fellows FWO. T.D. vice president Head Global Medical Affairs Fertility, Development, Merck KGaA, Darmstadt, Germany. He also professor Reproductive Medicine Biology at Department Development Regeneration, Group Biomedical Sciences, KU (University Leuven), Belgium adjunct Obstetrics Gynecology University Yale, New Haven, USA. Neither his corporate role nor academic roles represent conflict interest respect work him study. other co-authors interest. TRIAL REGISTRATION NUMBER Not applicable.