Causal associations between 17 common autoimmune diseases and aortic diseases: a Mendelian randomization study

Area of Science:

• Genetics
• Cardiovascular Medicine
• Immunology

Background:

• Correlations between autoimmune and aortic diseases are known, but causal links are unclear.
• Previous research lacks comprehensiveness in exploring these connections.
• Genetic investigation is needed to understand the causal relationship.

Purpose of the Study:

• To investigate potential causal relationships between autoimmune diseases and aortic diseases.
• To utilize a genetic perspective to clarify these complex associations.
• To identify specific autoimmune conditions that may influence aortic disease risk.

Main Methods:

• A two-sample Mendelian randomization (MR) study design was employed.
• Instrumental variables (IVs) were derived from genome-wide association study and FinnGen databases.
• Inverse-variance weighted (IVW) analysis, alongside heterogeneity, pleiotropy, and sensitivity analyses, was used to assess causality.

Main Results:

• A potential causal link was found between Addison's disease and an increased risk of thoracic aortic aneurysm.
• Sjögren's syndrome showed a negative association, and polymyalgia rheumatica a positive association with aortic dissection.
• No significant causal relationships were detected for the remaining 14 autoimmune diseases studied, with no evidence of heterogeneity or pleiotropy.

Conclusions:

• Addison's disease may be associated with an increased risk of thoracic aortic aneurysms.
• Sjögren's syndrome and polymyalgia rheumatica exhibited associations with aortic dissection, warranting further investigation.
• The study highlights specific autoimmune conditions with potential genetic links to aortic diseases.