Identification of potential diagnostic biomarkers and drug targets for endometriosis from a genetic perspective: a mendelian randomization study.

Abstract

Introduction: Endometriosis (EM) is a chronic disease severely impacting reproductive health, with its exact cause still unclear. In-depth understanding of the etiology and pathogenesis of EM from the perspective of genetics and exploring individualized treatment strategies can improve the health and quality of life of patients.

Methods: In this study, whole blood cis- expression quantitative trait loci (eQTL) data were used as exposure data, and data from the FinnGen database EM1-2 and EM3-4 were used as outcomes. Summary-data-based mendelian randomization (SMR) methods were used to select genes with causal relationship to the disease. These genes were validated through bioinformatics analysis and real-time quantitative polymerase chain reaction (RT-qPCR) analysis of clinical samples, and potential diagnostic and drug targets were screened through co-localization and molecular docking.

Results: Through SMR analysis, seven genes were selected as potential diagnostic markers of EM, namely Eukaryotic Elongation Factor, Selenocysteine-TRNA Specific (EEFSEC), INO80 complex subunit E (INO80E), RAP1 GTPase activating protein (RAP1GAP), Lipid Droplet Associated Hydrolase (LDAH), Ring Finger And SPRY Domain Containing 1 (RSPRY1), HLA Complex Group 22 (Non-Protein Coding) (HCG22) and Adenosine Kinase (ADK). Colocalization analysis showed that EEFSEC, HCG22, INO80E and RSPRY1 could be used as potential drug targets.

Conclusions: The study identifies potential diagnostic markers and drug targets for EM from a genetic perspective, providing new directions for drug development and precision medicine for EM treatment.