Publications by authors named "K A Viaud-Martinez"
In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole genome sequencing of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study).
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- Coronary artery calcification (CAC) is linked to heart disease and assessed through a genome-wide association study (GWAS) involving 22,400 participants from various backgrounds.
- The study confirmed connections with four known genetic loci and discovered two new loci related to CAC, with supportive replication findings for both.
- Functional tests suggest that ARSE promotes calcification in vascular smooth muscle cells and its variants may influence CAC levels, identifying ARSE as a key target for potential treatments in vascular calcific diseases.
Background: Individuals with type 2 diabetes (T2D) have an increased risk of coronary artery disease (CAD), but questions remain about the underlying pathology. Identifying which CAD loci are modified by T2D in the development of subclinical atherosclerosis (coronary artery calcification [CAC], carotid intima-media thickness, or carotid plaque) may improve our understanding of the mechanisms leading to the increased CAD in T2D.
Methods: We compared the common and rare variant associations of known CAD loci from the literature on CAC, carotid intima-media thickness, and carotid plaque in up to 29 670 participants, including up to 24 157 normoglycemic controls and 5513 T2D cases leveraging whole-genome sequencing data from the Trans-Omics for Precision Medicine program.
Article Synopsis
- Long non-coding RNAs (lncRNAs) play crucial roles in regulating lipid metabolism and have been studied in relation to genetic variants and complex traits.
- This research utilized high-coverage whole-genome sequencing of over 66,000 diverse participants to assess how rare variants in lncRNA genes affect blood lipid levels, using a statistical framework to analyze the associations.
- The study found 83 lncRNA variants significantly linked to lipid levels, with many being independent of common genetic variations, and replicated a majority of these findings with data from another large cohort.
Article Synopsis
- Long non-coding RNAs (lncRNAs) play key roles in regulating biological functions, and new genomic studies allow researchers to explore their connection to complex traits, like blood lipid levels.
- This research involved high-coverage whole genome sequencing from over 66,000 participants, focusing on the influence of rare variants in 165,375 lncRNA genes on lipid variability.
- The study found 83 rare lncRNA variant sets linked to blood lipid levels, with many of these associations being independent of common variants, suggesting potential new avenues for therapeutic interventions.