Skip to main content
Top

Open Access 02-05-2024 | Reproductive physiology and disease

Bioinformatic analysis of the role of immune checkpoint genes and immune infiltration in the pathogenesis and development of premature ovarian insufficiency

Authors: Xiyan Zhang, Ling Wang, Tongkun Yang, Li Kong, Luxiao Wei, Jing Du

Published in: Journal of Assisted Reproduction and Genetics

Login to get access

Abstract

Purpose

With advances in immunology, increasing evidence suggests that immunity is involved in premature ovarian insufficiency (POI) pathogenesis. This study investigated the roles of immune checkpoint genes and immune cell infiltration in POI pathogenesis and development.

Methods

The GSE39501 dataset and immune checkpoint genes were obtained from the Gene Expression Omnibus database and related literature. The two datasets were intersected to obtain immune checkpoint-related differentially expressed genes (ICRDEGs), which were analyzed using Gene Ontology and Kyoto Encyclopedia of Gene and Genomes enrichment analysis, weighted correlation network analysis, protein–protein interaction and related microRNAs, transcription factors, and RNA binding proteins. The immune cell infiltration of ICRDEGs was explored, and receiver operating characteristic curves were used to validate the diagnostic value of ICRDEGs in POI.

Results

We performed ICRDEG functional enrichment analysis and found that these genes were closely related to immune processes, such as T cell activation. Specifically, they are enriched in various biological processes and pathways, such as cell adhesion molecule and T cell receptor signaling pathways. Weighted correlation network analysis identified seven hub genes: Cd200, Cd274, Cd28, neurociliary protein-1, Cd276, Cd40lg, and Cd47. Furthermore, we identified 112 microRNAs, 17 RNA-binding proteins, and 101 transcription factors. Finally, immune infiltration analysis showed a clear positive correlation between hub genes and multiple immune cell types.

Conclusion

Bioinformatic analysis identified seven potential ICRDEGs associated with POI, among which the immune checkpoint molecules CD200 and neurociliary protein-1 may be involved in the pathogenesis of POI.
Appendix
Available only for authorised users
Literature
6.
go back to reference Johnson J, Kim SY, Sam PK, Asokan R, Cari EL, Bales ES, Luu TH, Perez L, Kallen AN, Nel-Themaat L, Polotsky AJ, Post MD, Orlicky DJ, Jordan KR, Bitler BG. Expression and T cell regulatory action of the PD-1 immune checkpoint in the ovary and fallopian tube. Am J Reprod Immunol. 2023;89(3): e13649. https://doi.org/10.1111/aji.13649.CrossRefPubMed Johnson J, Kim SY, Sam PK, Asokan R, Cari EL, Bales ES, Luu TH, Perez L, Kallen AN, Nel-Themaat L, Polotsky AJ, Post MD, Orlicky DJ, Jordan KR, Bitler BG. Expression and T cell regulatory action of the PD-1 immune checkpoint in the ovary and fallopian tube. Am J Reprod Immunol. 2023;89(3): e13649. https://​doi.​org/​10.​1111/​aji.​13649.CrossRefPubMed
19.
go back to reference Xiao B, et al. (2020) Identification and verification of immune-related gene prognostic signature based on ssGSEA for osteosarcoma. 10:607622. Xiao B, et al. (2020) Identification and verification of immune-related gene prognostic signature based on ssGSEA for osteosarcoma. 10:607622.
Metadata
Title
Bioinformatic analysis of the role of immune checkpoint genes and immune infiltration in the pathogenesis and development of premature ovarian insufficiency
Authors
Xiyan Zhang
Ling Wang
Tongkun Yang
Li Kong
Luxiao Wei
Jing Du
Publication date
02-05-2024
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-024-03120-x