Year: 2025
Type: article
Study design: Observational Study
Abstract: Background: Dilated cardiomyopathy (DCM) is a significant contributor to heart failure, originating from complex interactions between genetic and environmental factors. Although the immune system has been implicated in various cardiovascular diseases, its precise role in DCM pathogenesis remains ambiguous. This study uses Mendelian randomisation (MR) to explore the causal relationship between diverse immune cell traits and DCM risk. Methods: We conducted a two-sample MR analysis using summary-level data from genome-wide association studies of 731 immune cell traits and DCM. Our primary method employed fixed- and random-effects inverse-variance weighting, complemented by sensitivity analyses - such as MR-Egger, Mendelian Randomisation-Pleiotropy RESidual Sum and Outlier (MR-PRESSO) - to address potential pleiotropy. Additionally, genetic mapping and pathway enrichment analyses were performed on the key immune trait associated with DCM risk. Results: Tregs corresponded to a 14.4% increase in the odds of developing DCM (OR 1.144; 95% CI [1.069-1.223], p=9.36E-05, false discovery rate (FDR) = 0.0684). No reverse causal effects were observed. Genetic mapping further indicated an association between this immune trait and several genes enriched in cardiovascular tissues, with involvement in inflammatory responses and leukocyte adhesion. Conclusion: Treg levels in DCM development and highlight the critical impact of immune regulation in its pathogenesis. Future studies are warranted to validate these associations and elucidate the underlying biological mechanisms.
Source: European Cardiology Review
DOI: 10.15420/ecr.2025.19
Authors: Wei Gao, Hui Wang, Jian-long Wang, Ying-wu Liu, Lei Huang
Institutions: Tianjin University, Tianjin Third Central Hospital
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,146
Award: G631568769
OpenAlex ID: W4416004451