Publications by authors named "Marie-Gabrielle Duperron"
Article Synopsis
- Cerebral small vessel disease (cSVD) is a major contributor to stroke and dementia, and currently lacks specific treatments, prompting a study using Mendelian randomization to identify protein associations.
- The research combined cerebrospinal fluid (CSF) and plasma data with genetic studies to identify 49 proteins linked to cSVD, highlighting 16 that appeared in both fluids and showing connections to immune response and extracellular matrix pathways.
- Notably, many identified proteins were associated with stroke and dementia, with some already having known drug targets, paving the way for potential new biomarkers and therapies for cSVD.
Article Synopsis
- * Neuroimaging reveals that many of these genetic variants have widespread effects on brain regions and are linked to various cancers and specific signaling pathways, such as p53 and Wnt.
- * The findings suggest a connection between the genes that regulate head size and the likelihood of cancer, emphasizing the need for further research on the implications of this relationship.
Background: Previous observational studies reported that a lower serum 25-hydroxyvitamin D [25(OH)D] concentration is associated with a higher burden of cerebral small vessel disease (cSVD). The causality of this association is uncertain, but it would be clinically important, given that 25(OH)D can be a target for intervention. We tried to examine the causal effect of 25(OH)D concentration on cSVD-related phenotypes using a Mendelian randomization approach.
View Article and Find Full Text PDFPerivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population-based cohorts, 66.3 ± 8.
View Article and Find Full Text PDFWhite matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.
View Article and Find Full Text PDFCommonly observed in older community persons, dilated perivascular spaces (dPVSs) are thought to represent an emerging MRI marker of cerebral small vessel disease, but their clinical significance is uncertain. We examined the longitudinal relationship of dPVS burden with risk of incident stroke, ischemic stroke, and intracerebral hemorrhage (ICH) in the 3C-Dijon population-based study (N = 1678 participants, mean age 72.7 ± 4.
View Article and Find Full Text PDFArticle Synopsis
- The study explores a new method to identify genetic factors associated with cerebral small vessel disease in older adults by analyzing MRI data on white matter hyperintensities and brain infarcts.
- It uses whole exome sequencing from multiple population-based cohorts and focuses on specific candidate genes linked to Mendelian small vessel disease, such as HTRA1 and NOTCH3.
- The findings reveal significant genetic associations that suggest common mechanisms between rare and common forms of small vessel disease, highlighting the potential of using extreme phenotypes for gene mapping.
Importance: Covert vascular brain injury (VBI) is highly prevalent in community-dwelling older persons, but its clinical and therapeutic implications are debated.
Objective: To better understand the clinical significance of VBI to optimize prevention strategies for the most common age-related neurological diseases, stroke and dementia.
Data Source: We searched for articles in PubMed between 1966 and December 22, 2017, studying the association of 4 magnetic resonance imaging (MRI) markers of covert VBI (white matter hyperintensities [WMHs] of presumed vascular origin, MRI-defined covert brain infarcts [BIs], cerebral microbleeds [CMBs], and perivascular spaces [PVSs]) with incident stroke, dementia, or death.
Article Synopsis
- The study explores the genetic factors contributing to an MRI marker called dilated perivascular space (dPVS), linked to cerebral small vessel disease, using a sample of 1597 older adults.
- Results indicate a significant genetic component to dPVS burden, with estimates showing heritabilities around 0.59 for dPVS, 0.54 for white matter hyperintensity volume (WMHV), and 0.48 for lacunar brain infarcts.
- Findings suggest dPVS and WMHV share some genetic influences, particularly in the basal ganglia, indicating different biological processes may underlie DpVS in various brain regions.
This study investigates relationship between regional cerebral volumes and performances over time of a categorical fluency task, in a sample of older adults (n = 316). Using voxel-wise technique, the relationship between local grey matter volume and Isaacs Set Test (IST) scores at its early (first 15 sec) and late (last 15 sec) phase production was analyzed with a linear regression model adjusting for age, sex, educational level, ApoEɛ4 allele, handedness and Grey Matter atrophy. Lower early IST scores were associated with smaller volumes in bilateral inferior frontal gyri and in right thalamus, whereas lower late IST scores were associated to smaller left inferior parietal gyrus and left anterior hippocampus.
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