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已发表论文
免疫细胞表型与系统性红斑狼疮因果关系的双样本双向孟德尔随机化分析
Authors Niu W , Li J, Jia H, Wang L, Xu M, Liu X
Received 20 September 2025
Accepted for publication 17 January 2026
Published 29 January 2026 Volume 2026:19 566075
DOI https://doi.org/10.2147/CCID.S566075
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Prof. Dr. Rungsima Wanitphakdeedecha
Weilu Niu, Jianwei Li, Huangchao Jia, Liyun Wang, Mengyue Xu, Xuewei Liu
Department of Dermatology, The First Affiliated Hospital of Henan University of Chinese Medicine, Zhengzhou, Henan, People’s Republic of China
Correspondence: Xuewei Liu, Email liuxuewei2004@aliyun.com
Background: Systemic lupus erythematosus (SLE) is a complex autoimmune disease. Numerous studies suggest that immune cells play a critical role in the onset and progression of SLE; however, the causal mechanisms underlying these associations remain inadequately defined. This study aimed to systematically evaluate, at the genetic level, the potential causal relationships between 731 immune cell phenotypes and SLE using Mendelian randomization (MR), in order to identify potential pathogenic or protective immune biomarkers.
Methods: We utilized summary statistics from genome-wide association studies (GWAS) involving 3757 individuals of European Sardinian ancestry for 731 immune cell phenotypes and a GWAS for SLE comprising 647 cases and 482,264 controls of European ancestry. Single nucleotide polymorphisms (SNPs) significantly associated with immune phenotypes were selected as instrumental variables. The inverse variance weighted (IVW) method was employed as the primary MR analysis, complemented by the weighted median method, MR-Egger regression, simple mode method, and weighted mode method for validation. Sensitivity analyses included Cochran’s Q test, MR-Egger intercept test, MR-PRESSO global test, and leave-one-out analysis to assess heterogeneity, horizontal pleiotropy, and robustness. In addition, reverse MR analysis was conducted to explore the potential causal effects of SLE on immune cell phenotypes.
Results: A total of 24 immune cell phenotypes were identified to have significant causal associations with SLE, of which six showed positive correlations and eighteen showed negative correlations. These associations primarily involved key immune molecules including HLA-DR, CD25, CD45/CD45RA, CD8, BAFF-R, CD24, CD14, CX3CR1, CD28, CD11b, CD4, CD3, CD27, and CD16. Reverse MR analysis revealed that only IgD⁺ CD24− %B cells exhibited a bidirectional causal relationship with SLE.
Conclusion: The findings suggest that immune cell phenotypes may contribute to SLE pathogenesis through mechanisms including immune tolerance regulation, self-antigen recognition, and inflammation amplification. Several phenotypes significantly associated with SLE, such as HLA-DR, CD3, CD24, CD25, CX3CR1, CD8, remain insufficiently investigated at the mechanistic level and may serve as promising targets for future basic and clinical research, with potential therapeutic implications and translational value.
Keywords: immune phenotypes, systemic lupus erythematosus, mendelian randomization, genome-wide association study
Department of Dermatology, The First Affiliated Hospital of Henan University of Chinese Medicine, Zhengzhou, Henan, People’s Republic of China
Correspondence: Xuewei Liu, Email liuxuewei2004@aliyun.com
Background: Systemic lupus erythematosus (SLE) is a complex autoimmune disease. Numerous studies suggest that immune cells play a critical role in the onset and progression of SLE; however, the causal mechanisms underlying these associations remain inadequately defined. This study aimed to systematically evaluate, at the genetic level, the potential causal relationships between 731 immune cell phenotypes and SLE using Mendelian randomization (MR), in order to identify potential pathogenic or protective immune biomarkers.
Methods: We utilized summary statistics from genome-wide association studies (GWAS) involving 3757 individuals of European Sardinian ancestry for 731 immune cell phenotypes and a GWAS for SLE comprising 647 cases and 482,264 controls of European ancestry. Single nucleotide polymorphisms (SNPs) significantly associated with immune phenotypes were selected as instrumental variables. The inverse variance weighted (IVW) method was employed as the primary MR analysis, complemented by the weighted median method, MR-Egger regression, simple mode method, and weighted mode method for validation. Sensitivity analyses included Cochran’s Q test, MR-Egger intercept test, MR-PRESSO global test, and leave-one-out analysis to assess heterogeneity, horizontal pleiotropy, and robustness. In addition, reverse MR analysis was conducted to explore the potential causal effects of SLE on immune cell phenotypes.
Results: A total of 24 immune cell phenotypes were identified to have significant causal associations with SLE, of which six showed positive correlations and eighteen showed negative correlations. These associations primarily involved key immune molecules including HLA-DR, CD25, CD45/CD45RA, CD8, BAFF-R, CD24, CD14, CX3CR1, CD28, CD11b, CD4, CD3, CD27, and CD16. Reverse MR analysis revealed that only IgD⁺ CD24− %B cells exhibited a bidirectional causal relationship with SLE.
Conclusion: The findings suggest that immune cell phenotypes may contribute to SLE pathogenesis through mechanisms including immune tolerance regulation, self-antigen recognition, and inflammation amplification. Several phenotypes significantly associated with SLE, such as HLA-DR, CD3, CD24, CD25, CX3CR1, CD8, remain insufficiently investigated at the mechanistic level and may serve as promising targets for future basic and clinical research, with potential therapeutic implications and translational value.
Keywords: immune phenotypes, systemic lupus erythematosus, mendelian randomization, genome-wide association study