# RNA-Seq transcriptome profiling reveals distinct immune response landscapes to identifying inflammation-related diagnostic markers in latent endometrial tuberculosis

**Authors:** Bai Dai, Jing-ying Liu, De-Bang Li, Zhi-ming Wang, Xiu-juan Chen

PMC · DOI: 10.1038/s41598-025-89483-2 · Scientific Reports · 2025-04-10

## TL;DR

This study uses RNA-Seq to identify immune-related genes that could help diagnose latent endometrial tuberculosis, a hidden cause of female infertility.

## Contribution

The study identifies seven novel inflammation-related genes as potential diagnostic markers for latent endometrial tuberculosis.

## Key findings

- Seven candidate genes (IFI30, HCK, SPI1, IL1B, ITGB2, and FCGR2A) are uniquely associated with LETB.
- These genes are involved in immune regulation, including leukocyte activation and cytokine signaling.
- Validation through qPCR and immunohistochemistry confirmed the differential expression of these biomarkers in LETB tissues.

## Abstract

Latent Endometrial Tuberculosis (LETB) is a significant yet under-recognized cause of female infertility, particularly in TB-prevalent regions. Current diagnostic methods for LETB lack specificity, complicating early detection. Through RNA-Seq transcriptome profiling, we aimed to uncover distinct immune response landscapes and identify novel inflammation-related diagnostic markers for LETB. Our study included clinical diagnostics, histological examinations, and transcriptomic analyses comparing differentially expressed genes (DEGs) among control, LETB, and active TB groups. We identified seven candidate genes (IFI30, HCK, SPI1, IL1B, ITGB2, and FCGR2A) uniquely associated with LETB. Bioinformatic analyses revealed these genes’ significant roles in immune regulation, including leukocyte activation, cytokine signaling, and myeloid leukocyte-mediated immunity. Gene Set Enrichment Analysis (GSEA) confirmed their involvement in key immune pathways such as cytokine-cytokine receptor interaction and leukocyte transendothelial migration. Validation through qPCR and immunohistochemistry confirmed the differential expression of these biomarkers in LETB tissues. These findings provide new insights into LETB pathogenesis, suggesting potential biomarkers for enhanced early diagnosis and treatment, ultimately aiming to improve reproductive health outcomes for affected women.

## Linked entities

- **Genes:** IFI30 (IFI30 lysosomal thiol reductase) [NCBI Gene 10437], HCK (HCK proto-oncogene, Src family tyrosine kinase) [NCBI Gene 3055], SPI1 (Spi-1 proto-oncogene) [NCBI Gene 6688], IL1B (interleukin 1 beta) [NCBI Gene 3553], ITGB2 (integrin subunit beta 2) [NCBI Gene 3689], FCGR2A (Fc gamma receptor IIa) [NCBI Gene 2212]
- **Diseases:** TB (MONDO:0018076)

## Full-text entities

- **Genes:** FCGR2A (Fc gamma receptor IIa) [NCBI Gene 2212] {aka CD32, CD32A, CDw32, FCG2, FCGR2, FCGR2A1}, SPI1 (Spi-1 proto-oncogene) [NCBI Gene 6688] {aka AGM10, OF, PU.1, SFPI1, SPI-1, SPI-A}, ITGB2 (integrin subunit beta 2) [NCBI Gene 3689] {aka CD18, LAD, LCAMB, LFA-1, MAC-1, MF17}, IL1B (interleukin 1 beta) [NCBI Gene 3553] {aka IL-1, IL1-BETA, IL1F2, IL1beta}, IFI30 (IFI30 lysosomal thiol reductase) [NCBI Gene 10437] {aka GILT, IFI-30, IP-30, IP30}, HCK (HCK proto-oncogene, Src family tyrosine kinase) [NCBI Gene 3055] {aka AIPCV, JTK9, p59Hck, p61Hck}
- **Diseases:** inflammation (MESH:D007249), TB (MESH:D014390), LETB (MESH:D055985), female infertility (MESH:D007247)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11985503/full.md

## References

2 references — full list in the complete paper: https://tomesphere.com/paper/PMC11985503/full.md

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Source: https://tomesphere.com/paper/PMC11985503