TLR4 identified as a major depressive disorder gene signature mediating effects through multiple immune cells

Abstract The pathogenesis of major depressive disorder (MDD) is currently unclear and lacks objective diagnostic criteria. The complexity and heterogeneity of MDD also limit precise treatment. Using bioinformatics methods, we identified 18 gene signatures of MDD from the GSE98793 dataset, and valida...

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Main Authors: Jiayi Wei, Lei Tang, Sijian Wang, Xiang Yuan, Rong Liao, Yuling Wu, NanQi Huang, Hangchi Liu, Hanyan Wang
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-95663-x
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author Jiayi Wei
Lei Tang
Sijian Wang
Xiang Yuan
Rong Liao
Yuling Wu
NanQi Huang
Hangchi Liu
Hanyan Wang
author_facet Jiayi Wei
Lei Tang
Sijian Wang
Xiang Yuan
Rong Liao
Yuling Wu
NanQi Huang
Hangchi Liu
Hanyan Wang
author_sort Jiayi Wei
collection DOAJ
description Abstract The pathogenesis of major depressive disorder (MDD) is currently unclear and lacks objective diagnostic criteria. The complexity and heterogeneity of MDD also limit precise treatment. Using bioinformatics methods, we identified 18 gene signatures of MDD from the GSE98793 dataset, and validated them in an independent dataset GSE44593 (Area under the curve values were 0.92, 0.72, and 0.70 for the training, validation, and test sets, respectively). Among the gene signatures, TLR4 had the largest absolute coefficient value (coefficient = -6.13). We further identified three CD 14 + monocyte-associated gene signatures and two immune-related subtypes. The expression of TLR4 is significantly increased in subtype A of MDD (lower predicted probability), and is significantly correlated with the composition of multiple immune cells (P < 0.05). We validated that TLR4 acts as a protective factor in MDD (OR = 0.91, 95% CI = 0.85 to 0.98, P = 0.012), and its expression is driven by the same causal variants as MDD (H4/(H3 + H4) = 98.62%). Further analysis showed that the relationship between TLR4 and MDD is influenced by eight immune cell signatures. Our research provided genetic support that the immune factors may play an important role in MDD, and proposed a possible strategy for the diagnosis and treatment of MDD.
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spelling doaj-art-7c477691a5c84f60b0d68e9947064d8a2025-08-20T02:12:06ZengNature PortfolioScientific Reports2045-23222025-04-0115111410.1038/s41598-025-95663-xTLR4 identified as a major depressive disorder gene signature mediating effects through multiple immune cellsJiayi Wei0Lei Tang1Sijian Wang2Xiang Yuan3Rong Liao4Yuling Wu5NanQi Huang6Hangchi Liu7Hanyan Wang8Institute of Basic Medicine, North Sichuan Medical CollegeMental Health Center, Affiliated Hospital of North Sichuan Medical CollegeDepartment of Clinical Medicine, North Sichuan Medical CollegeNanchong Psychosomatic HospitalNanchong Psychosomatic HospitalNanchong Psychosomatic HospitalDepartment of Clinical Medicine, North Sichuan Medical CollegeDepartment of Clinical Medicine, North Sichuan Medical CollegeInstitute of Basic Medicine, North Sichuan Medical CollegeAbstract The pathogenesis of major depressive disorder (MDD) is currently unclear and lacks objective diagnostic criteria. The complexity and heterogeneity of MDD also limit precise treatment. Using bioinformatics methods, we identified 18 gene signatures of MDD from the GSE98793 dataset, and validated them in an independent dataset GSE44593 (Area under the curve values were 0.92, 0.72, and 0.70 for the training, validation, and test sets, respectively). Among the gene signatures, TLR4 had the largest absolute coefficient value (coefficient = -6.13). We further identified three CD 14 + monocyte-associated gene signatures and two immune-related subtypes. The expression of TLR4 is significantly increased in subtype A of MDD (lower predicted probability), and is significantly correlated with the composition of multiple immune cells (P < 0.05). We validated that TLR4 acts as a protective factor in MDD (OR = 0.91, 95% CI = 0.85 to 0.98, P = 0.012), and its expression is driven by the same causal variants as MDD (H4/(H3 + H4) = 98.62%). Further analysis showed that the relationship between TLR4 and MDD is influenced by eight immune cell signatures. Our research provided genetic support that the immune factors may play an important role in MDD, and proposed a possible strategy for the diagnosis and treatment of MDD.https://doi.org/10.1038/s41598-025-95663-xMajor depressive disorderGene signatureImmune signatureTLR4Mendelian randomization
spellingShingle Jiayi Wei
Lei Tang
Sijian Wang
Xiang Yuan
Rong Liao
Yuling Wu
NanQi Huang
Hangchi Liu
Hanyan Wang
TLR4 identified as a major depressive disorder gene signature mediating effects through multiple immune cells
Scientific Reports
Major depressive disorder
Gene signature
Immune signature
TLR4
Mendelian randomization
title TLR4 identified as a major depressive disorder gene signature mediating effects through multiple immune cells
title_full TLR4 identified as a major depressive disorder gene signature mediating effects through multiple immune cells
title_fullStr TLR4 identified as a major depressive disorder gene signature mediating effects through multiple immune cells
title_full_unstemmed TLR4 identified as a major depressive disorder gene signature mediating effects through multiple immune cells
title_short TLR4 identified as a major depressive disorder gene signature mediating effects through multiple immune cells
title_sort tlr4 identified as a major depressive disorder gene signature mediating effects through multiple immune cells
topic Major depressive disorder
Gene signature
Immune signature
TLR4
Mendelian randomization
url https://doi.org/10.1038/s41598-025-95663-x
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