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Lateral Atrial Expression Patterns Provide Insights into Local Transcription Disequilibrium Contributing to Disease Susceptibility.

Circ Genom Precis Med

January 2025

CARIM School for Cardiovascular Diseases (A.I., S.Z., J.W., B.B., H.J.G.M.C., B.H., M.K., S.V., U.S., M.S.), Maastricht University, the Netherlands.

Background: Transcriptional dysregulation, possibly affected by genetic variation, contributes to disease development. Due to dissimilarities in development, function, and remodeling during disease progression, transcriptional differences between the left atrial (LA) and right atrial (RA) may provide insight into diseases such as atrial fibrillation.

Methods: Lateral differences in atrial transcription were evaluated in CATCH ME (Characterizing Atrial fibrillation by Translating its Causes into Health Modifiers in the Elderly) using a 2-stage discovery and replication design.

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Objective: The aim of this study is to explore the risk profiles associated with Abdominal aortic aneurysm (AAA) incidence in both the general population and diverse subpopulations.

Summary Background Data: AAA is a life-threatening arterial disease, and there is limited understanding of its etiological spectrum across the age, sex, and genetic risk subgroups, making early prevention efforts more complicated.

Methods: This study encompassed a sample size of 364399 participants from the UK.

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Myasthenia gravis (MG) is an autoimmune disorder involving complex interactions between genetic and environmental factors. Genome-wide association studies (GWAS), transcriptome-wide association studies (TWAS), and other methods have identified multiple novel susceptibility loci and genes, providing crucial insights into the genetic etiology of MG. Moreover, the pivotal roles of epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs, in the pathogenesis of MG are gradually being unveiled.

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Background Type I diabetes mellitus (T1DM) is a prevalent chronic illness that typically manifests in childhood. In patients who are genetically predisposed to diabetes, complex interactions between environmental and genetic factors play a role in the development of type 1 diabetes. There is proof that the onset of type 1 diabetes raises the possibility of developing additional autoimmune conditions.

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Pyrazinamide (PZA) is a key first-line antituberculosis drug that plays an important role in eradicating persister (TB) bacilli and shortening the duration of tuberculosis treatment. However, PZA-resistance is on the rise, particularly among persons with multidrug-resistant (MDR) tuberculosis. This nationwide study was conducted to explore the prevalence of mutations conferring PZA resistance, catalogue mutation diversity, investigate the associations of PZA resistance with specific lineages, examine co-resistance to 13 first- and second-line drugs, and evaluate the diagnostic accuracy of sequencing A and D genes for predicting PZA resistance.

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