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- Title
Primary biliary cholangitis has causal effects on systemic rheumatic diseases: a Mendelian randomization study.
- Authors
Zhang, Hai-Ping; Zhou, Zhe; Chen, Ke; Xiong, Li-Fen; Wu, Jun; Jin, Lei
- Abstract
Background: An association has been observed between primary biliary cholangitis (PBC) and systemic rheumatic diseases (SRDs) in observational studies, however the exact causal link remains unclear. We aimed to evaluate the causal effects of PBC on SRDs through Mendelian randomization (MR) analysis. Methods: The genome-wide association study (GWAS) summary data were obtained from MRC IEU OpenGWAS and FinnGen databases. Independent genetic variants for PBC were selected as instrumental variables. Inverse variance weighted was used as the main approach to evaluate the causal effects of PBC on Sjögren syndrome (SS), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), systemic sclerosis (SSc), mixed connective tissue disease (MCTD) and polymyositis (PM). Horizontal pleiotropy and heterogeneity were measured by MR‒Egger intercept test and Cochran's Q value, respectively. Results: PBC had causal effects on SS (OR = 1.177, P = 8.02e-09), RA (OR = 1.071, P = 9.80e-04), SLE (OR = 1.447, P = 1.04e-09), SSc (OR = 1.399, P = 2.52e-04), MCTD (OR = 1.306, P = 4.92e-14), and PM (OR = 1.416, P = 1.16e-04). Based on the MR‒Egger intercept tests, horizontal pleiotropy was absent (all P values > 0.05). The robustness of our results was further enhanced by the leave-one-out method. Conclusions: Our research has provided new insights into PBC and SRDs, indicating casual effects on various SRDs.
- Subjects
RHEUMATISM; CONNECTIVE tissue diseases; SYSTEMIC lupus erythematosus; SYSTEMIC scleroderma; GENOME-wide association studies
- Publication
BMC Gastroenterology, 2024, Vol 24, Issue 1, p1
- ISSN
1471-230X
- Publication type
Article
- DOI
10.1186/s12876-024-03319-3