Identification of molecular subtypes and immune infiltration in endometriosis: a novel bioinformatics analysis and In vitro validation

Si-Ji Lv; Jia-Ni Sun; Lei Gan; Jing Sun

doi:10.3389/fimmu.2023.1130738

Identification of molecular subtypes and immune infiltration in endometriosis: a novel bioinformatics analysis and In vitro validation

Front Immunol. 2023 Aug 18:14:1130738. doi: 10.3389/fimmu.2023.1130738. eCollection 2023.

Authors

Si-Ji Lv¹, Jia-Ni Sun¹, Lei Gan², Jing Sun¹

Affiliations

¹ Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
² Department of Gynaecology and Obstetrics, Ningbo First Hospital, Ningbo, Zhejiang, China.

Abstract

Introduction: Endometriosis is a worldwide gynacological diseases, affecting in 6-10% of women of reproductive age. The aim of this study was to investigate the gene network and potential signatures of immune infiltration in endometriosis.

Methods: The expression profiles of GSE51981, GSE6364, and GSE7305 were obtained from the Gene Expression Omnibus (GEO) database. Core modules and central genes related to immune characteristics were identified using a weighted gene coexpression network analysis. Bioinformatics analysis was performed to identify central genes in immune infiltration. Protein-protein interaction (PPI) network was used to identify the hub genes. We then constructed subtypes of endometriosis samples and calculated their correlation with hub genes. qRTPCR and Western blotting were used to verify our findings.

Results: We identified 10 candidate hub genes (GZMB, PRF1, KIR2DL1, KIR2DL3, KIR3DL1, KIR2DL4, FGB, IGFBP1, RBP4, and PROK1) that were significantly correlated with immune infiltration. Our study established a detailed immune network and systematically elucidated the molecular mechanism underlying endometriosis from the aspect of immune infiltration.

Discussion: Our study provides comprehensive insights into the immunology involved in endometriosis and might contribute to the development of immunotherapy for endometriosis. Furthermore, our study sheds light on the underlying molecular mechanism of endometriosis and might help improve the diagnosis and treatment of this condition.

Keywords: WGCNA; endometriosis; immune cell subset; immune infiltration; molecular subtype; signature.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Blotting, Western
Computational Biology
Databases, Factual
Endometriosis* / genetics
Female
Gastrointestinal Hormones*
Gene Regulatory Networks
Humans
Retinol-Binding Proteins, Plasma
Vascular Endothelial Growth Factor, Endocrine-Gland-Derived*

Substances

RBP4 protein, human
Retinol-Binding Proteins, Plasma
PROK1 protein, human
Gastrointestinal Hormones
Vascular Endothelial Growth Factor, Endocrine-Gland-Derived

Grants and funding

This work was supported by the Science and Technology Commission of Shanghai Municipality (grant number 22Y11906100) and the Shanghai Municipality: Shanghai Outstanding Academic Leaders Plan (2019).