Tag: mendelian randomization

Multi-Omics Exploration of Risk Factors and Pathways Linking Respiratory Conditions and Abdominal Aortic Aneurysm

Multi-Omics Exploration of Risk Factors and Pathways Linking Respiratory Conditions and Abdominal Aortic AneurysmAnnouncing a new article publication for Cardiovascular Innovations and Applications journal. This editorial highlights a landmark study that applies an integrative multi-omics framework to uncover a causal connection between chronic obstructive pulmonary disease (COPD) and abdominal aortic aneurysm (AAA). Through the combined use of bidirectional Mendelian randomization (MR), tissue-specific expression quantitative trait loci (eQTL) analysis, single-cell RNA sequencing (scRNA-seq), and phenome-wide association studies (PheWAS), the study provides robust genetic and molecular evidence linking the two diseases.

A key discovery is the identification of 48 genes associated with both conditions, including KIF3A, a gene found to inhibit disease activity in both COPD and AAA. The integration of scRNA-seq data allowed localization of relevant genes—such as PLTP, RIF1, and IFI27L2—to immune and stromal cells, providing insights into tissue-specific mechanisms of pathogenesis.

Read more: https://www.scienceopen.com/hosted-document?doi=10.15212/CVIA.2025.0019

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Genetic and Molecular Relationships Between Chronic Obstructive Pulmonary Disease and Abdominal Aortic Aneurysm: Insights from a Multi-Omics Approach

Announcing a new article publication for Cardiovascular Innovations and Applications journal. Chronic obstructive pulmonary disease (COPD) and abdominal aortic aneurysm (AAA) are both severe conditions with complex etiologies and substantial comorbidities. Previous studies have suggested a potential relationship between these diseases, but the underlying genetic and molecular mechanisms remain unclear.

Bidirectional two-sample Mendelian randomization (MR) was used to investigate the causal relationship between COPD and AAA. Expression quantitative trait loci (eQTL) analysis was performed with GTEx V8 summary statistics for aortic and lung tissues. Single-cell sequencing data from GEO datasets were analyzed to identify differentially expressed genes. Finally, a phenome-wide association study (PheWAS) was conducted to explore the broader implications of identified pathogenic genes. (more…)

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Exploration of the Causal Roles of Immune Cells and Inflammatory Proteins in Aortic Dissection via Mendelian Randomization

Announcing a new article publication for Cardiovascular Innovations and Applications journal. Aortic dissection is a life-threatening condition with complex immunological underpinnings. This article explored the causal relationships among immune cells, inflammatory proteins, and aortic dissection, through Mendelian randomization analysis. A two-step Mendelian randomization approach was used to assess potential mediators, focusing on the roles of blood immune cells and inflammatory proteins.

GWAS data was analyzed for 731 immune cell traits, 91 inflammatory proteins, and aortic dissection. Single-nucleotide polymorphisms were used as instrumental variables, and analyses were conducted with inverse variance weighting and sensitivity tests to ensure robustness.

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Causal Relationship between PECAM-1 Level and Cardiovascular Diseases: A Mendelian Randomization Study

Announcing a new article publication for Cardiovascular Innovations and Applications journal. Platelet endothelial cell adhesion molecule (PECAM-1) is present in the vascular endothelium and plays important roles in various biological processes. Several recent studies have reported associations between PECAM-1 and cardiovascular diseases (CVDs). However, further research is necessary to clarify the causal effects of PECAM-1 on CVDs.

To determine whether PECAM-1 and CVDs are causally associated, the authors of this article conducted a two-sample Mendelian randomization (TSMR) study.

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Causal Associations Between the Gut Microbiome and Aortic Aneurysm: A Mendelian Randomization Study

Announcing a new article publication for Cardiovascular Innovations and Applications journal.  Observational studies have indicated an association between the gut microbiota and the occurrence and progression of aortic aneurysm (AA). However, the causal relationship between the gut microbiota and AA and its subtypes remains unclear. This study used Mendelian randomization (MR) to gain new insights into the relationship between the gut microbiota and AA, including AA subtypes.

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Rheumatoid Arthritis and Risk of Atrial Fibrillation: Results from Pooled Cohort Studies and Mendelian Randomization Analysis

Announcing a new article publication for Cardiovascular Innovations and Applications journal. Observational research has indicated that individuals diagnosed with rheumatoid arthritis (RA) have an elevated likelihood of developing atrial fibrillation (AF). The authors of this article performed meta-analysis and Mendelian randomization (MR) analysis to explore the correlation and potential causal relationship between RA and AF. PubMed, Embase, and Web of Science were searched for cohort studies comparing AF risk among participants with and without RA. Quantitative synthesis of the adjusted risk ratio (RR) or hazard ratio was performed with the random-effects model. RA and AF were studied with two-sample MR analysis with the random-effects inverse variance weighted method. Patients with RA had a higher risk of AF than participants without RA [RR = 1.32, 95% confidence interval (CI): 1.23–1.43, P < 0.0001]. Genetically predicted RA was not associated with a significantly elevated risk of AF (odds ratio = 1.009, 95% CI: 0.986–1.032, P = 0.449). After adjustment for confounding factors in multifactorial MR, RA and AF still showed no correlation. Sensitivity analyses yielded similar results, thus indicating the robustness of the causal association. Overall, RA was associated with elevated risk of AF in this meta-analysis. However, genetically predicted RA may not be causal.

https://www.scienceopen.com/hosted-document?doi=10.15212/CVIA.2024.0006

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Qiyuan Song, Luxiang Shang and Yujiao Zhang et al. Rheumatoid Arthritis and Risk of Atrial Fibrillation: Results from Pooled Cohort Studies and Mendelian Randomization Analysis. CVIA. 2024. Vol. 9(1). DOI: 10.15212/CVIA.2024.0006

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