Explore the vast range of titles available.

Background Molecular quantitative trait loci (molQTL) mapping, particularly for gene expression and chromatin accessibility, provides crucial insights into the regulatory and functional potential of genetic variation. While significant progress has been made in humans and model organisms, aquatic genomics remains underexplored due to the large sample sizes typically required for statistical power. Results In this work, we enhance the scalability, reproducibility, and accessibility of the well-established RASQUAL method, which efficiently detects molQTLs in small datasets, by leveraging the Nextflow workflow framework. This adaptation, named nf-RASQUAL , supports fully automated QTL mapping and incorporates a robust, comprehensive multiple-testing correction process. We apply the pipeline to a comprehensive multi-omics dataset from 12 Atlantic salmon, identifying numerous significant expression and chromatin accessibility QTLs across multiple tissues. Our analysis reveals that a large proportion of lead variants for these loci reside in non-coding regions, with caQTL lead SNPs more likely to disrupt transcription factor motifs. Additionally, the enriched colocalization of eQTL and caQTL lead SNPs in brain, liver, and gonad tissues suggests shared regulatory mechanisms. Conclusions These findings highlight the scalability and utility of nf-RASQUAL for advancing genetic regulation research in aquaculture, facilitating molQTL studies in less-explored species, and improving our understanding of molecular phenotypes shaped by genetic diversity.

Diabetes mellitus (DM) is a chronic metabolic disorder characterized by persistent hyperglycemia due to insulin resistance or failure to produce insulin. Patients with DM develop microvascular complications that include chronic kidney disease and retinopathy, and macrovascular complications that mainly consist in an accelerated and more severe atherosclerosis compared to the general population, increasing the risk of cardiovascular (CV) events, such as stroke or myocardial infarction by 2- to 4-fold. DM is commonly associated with a low-grade chronic inflammation that is a known causal factor in its development and its complications. Moreover, it is now well-established that inflammation and immune cells play a major role in both atherosclerosis genesis and progression, as well as in CV event occurrence. In this review, after a brief presentation of DM physiopathology and its macrovascular complications, we will describe the immune system dysregulation present in patients with type 1 or type 2 diabetes and discuss its role in DM cardiovascular complications development. More specifically, we will review the metabolic changes and aberrant activation that occur in the immune cells driving the chronic inflammation through cytokine and chemokine secretion, thus promoting atherosclerosis onset and progression in a DM context. Finally, we will discuss how genetics and recent systemic approaches bring new insights into the mechanisms behind these inflammatory dysregulations and pave the way toward precision medicine.