Publications by authors named "B Mazoyer"

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.
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We present an empirically benchmarked framework for sex-specific normative modeling of brain morphometry that can inform about the biological and behavioral significance of deviations from typical age-related neuroanatomical changes and support future study designs. This framework was developed using regional morphometric data from 37,407 healthy individuals (53% female; aged 3-90 years) following a comparative evaluation of eight algorithms and multiple covariate combinations pertaining to image acquisition and quality, parcellation software versions, global neuroimaging measures, and longitudinal stability. The Multivariate Factorial Polynomial Regression (MFPR) emerged as the preferred algorithm optimized using nonlinear polynomials for age and linear effects of global measures as covariates.

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Perivascular 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.

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Article Synopsis
  • - Cerebral small vessel disease is a major factor in strokes and cognitive decline, but specific genetic causes are not well understood; this study explores genetic links using data from large cohorts of older individuals with MRI scans and genetic profiles.
  • - The researchers found significant associations with extreme small vessel disease at 11 genomic loci; notably, a new association was identified at chr12q24.11, and common variants in the EFEMP1 and TRIM47 genes were linked to disease severity.
  • - The study suggests that the severity of small vessel disease is causally associated with higher risks for stroke and Alzheimer's; TRIM47, in particular, plays a crucial role in brain vascular health and is enriched in brain endothelial cells.
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