Evidence map›Paper›PMID 40958401›Full record

ArticleBrain and behavior2025

Mendelian Randomization and Machine Learning Reveal Immune Cell and Gene Drivers in Systemic Lupus Erythematosus.

Luofei Huang, Jian Shi, Han Li, Quanzhi Lin

Abstract read
In one paragraph

Article in Brain and behavior, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

4 authors.

Luofei HuangLiuzhou Municipal Liutie Central Hospital, Liuzhou, Guangxi, China.
Jian ShiDepartment of Internal Medicine, The People's Hospital of Laibin, Laibin, Guangxi, China.
Han LiLiuzhou People's Hospital Affiliated to Guangxi Medical University, Liuzhou, Guangxi, China.ORCID https://orcid.org/0000-0002-9299-0026
Quanzhi LinThe First Affiliated Hospital of Guangxi University of Science and Technology, Liuzhou, Guangxi, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSystemic lupus erythematosus (SLE) is a complex autoimmune disease with unclear pathogenesis. Recent studies suggest that immune cell phenotypes may play a causal role. This study aimed to uncover causal immune cell types, key genes, and potential biomarkers using Mendelian randomization (MR) and machine learning.

methodsA two-sample MR analysis was performed on 731 immune cell traits to assess their causal relationship with SLE risk. Gene Expression Omnibus datasets were used to identify differentially expressed genes (DEGs), followed by immune infiltration analysis and machine learning-based gene selection. Key genes were validated using independent datasets and expression quantitative trait loci-MR analysis.

resultsSignificant causal links with SLE were observed for 10 immune cell subtypes (p < 0.01). A total of 17 DEGs, including FCGR2A, TMEM181, and RASA3, were identified as being associated with immune infiltration. Single-sample gene set enrichment analysis revealed altered immune cell compositions in SLE. Five key genes (FCGR2A, TMEM181, RASA3, BCAR3, and MCTP2) with strong diagnostic potential (area under the curve = 0.948) were identified using a support vector machine model. Their causal relevance was confirmed by MR.

conclusionsThis integrative approach revealed 10 immune cell types and five genes with causal roles in SLE, offering novel insights into disease mechanisms and potential targets for precision medicine.

Indexed as

Lupus Erythematosus, SystemicMachine LearningMendelian Randomization AnalysisGenetic Predisposition to DiseaseHumansMembrane ProteinsQuantitative Trait LociMembrane Proteinsbiomarkersimmune cell phenotypesmachine learningMendelian randomizationsystemic lupus erythematosus

Identifiers

PMID40958401
PMCPMC12441009

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