Lupus & antiphospholipid syndrome

Causal relationship between systemic lupus erythematosus and primary liver cirrhosis based on two-sample bidirectional Mendelian randomization and transcriptome overlap analysis

Arthritis Res TherPublished Two-sample bidirectional Mendelian randomization study with transcriptome overlap analysis

Authors' conclusion

The two-sample bidirectional MR analysis revealed that SLE and PBC were high-risk factors for each other, indicating that they had similar genetic bases, which could to some extent overcome the limitation of insufficient overlap in case samples of SLE and PBC.

Study context

Exposure
Systemic lupus erythematosus (SLE) and primary biliary cirrhosis (PBC) as genetic exposures for each other
Outcome
Potential causal relationship between SLE and PBC
Methodological detailsCochran's Q-test for heterogeneity, sensitivity test, Gene Expression Omnibus database, machine learning
  • Cochran's Q-test for heterogeneity
  • Sensitivity test
  • Gene Expression Omnibus database
  • Machine learning

Main finding

As reported in the abstract

  • SLE and PBC were both high-risk factors for the occurrence and development of the other
  • Mendelian randomization (MR) analysis had heterogeneity but was robust

Observational data: associations, not effects.

Further findings

Transcriptome overlap hub genes

Hub genes identified
9
Machine learning verified high recognition efficiency for SLE patients

Hub gene SOCS3 (MR validation)

No potential causal relationship between SOCS3 and SLE
SOCS3 a high-risk factor for potential risk of PBC

Original publication

Causal relationship between systemic lupus erythematosus and primary liver cirrhosis based on two-sample bidirectional Mendelian randomization and transcriptome overlap analysis. Arthritis Res Ther. Published 2 January 2024. doi:10.1186/s13075-023-03235-z

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