Cohort Profile: The Saguenay Youth Study (SYS)

Pausová, Zdenka; Paus, Tomáš; Abrahamowicz, Michal; Bernard, Manon; Gaudet, Daniel; Leonard, Gabriel; Péron, Michel; Pike, G. Bruce; Richer, Louis; Séguin, Jean R.; Veillette, Suzanne

doi:10.1093/ije/dyw023

Cited by 48 publications

(48 citation statements)

References 86 publications

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“…Genomewide markers of DNA methylation are available in a subset of adolescents (n = 144) and their parents (n = 288). Details of the protocol and the key findings have been reviewed elsewhere (Pausova et al, ; Paus et al, ).…”

Section: Participants and Methodsmentioning

confidence: 99%

Sex differences in the adolescent brain and body: Findings from the saguenay youth study

Paus

Wong

Syme

et al. 2016

J of Neuroscience Research

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This Mini-Review describes sex differences in 66 quantitative characteristics of the brain and body measured in a community-based sample of 1,024 adolescents 12-18 years of age, members of the Saguenay Youth Study. Using an extensive phenotyping protocol, we have obtained measures in a number of domains, including brain structure, cognition, mental health, substance use, body composition, metabolism, cardiovascular reactivity, and life style. For each measure, we provide estimates of effect size (Cohen's d) and sex-specific correlations with age (Pearson R). In total 59 of the 66 characteristics showed sex differences (at a nominal P < 0.05), with small (32), medium-sized (13), and large (11) effects. Some, but not all, of these sex differences increase during adolescence; this appears to be the case mostly for anatomical and physiological measures. V C 2016 Wiley Periodicals, Inc.

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Section: Participants and Methodsmentioning

confidence: 99%

Sex differences in the adolescent brain and body: Findings from the saguenay youth study

Paus

Wong

Syme

et al. 2016

J of Neuroscience Research

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“…(39) Clinical assessments NVIQ data were available across all cohorts. (30)(31)(32)(33) The assessment methods are detailed in Methods and Table S2 in the online supplement. All other cognitive, behavioural, and motor phenotypes are detailed in Table 1, Methods and Table S1 in the 6 online supplement.…”

Section: Cnv Calling and Annotationmentioning

confidence: 99%

Effects-sizes of deletions and duplications on autism risk across the genome

Douard

Zeribi

Schramm

et al. 2020

Preprint

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Objective: Deleterious copy number variants (CNVs) are identified in up to 20% of individuals with autism. However, only 13 genomic loci have been formally associated with autism because the majority of CNVs are too rare to perform individual association studies. To investigate the implication of undocumented CNVs in neurodevelopmental disorders, we recently developed a new framework to estimate their effect-size on intelligence quotient (IQ) and sought to extend this approach to autism susceptibility and multiple cognitive domains. Methods: We identified CNVs in two autism samples (Simons Simplex Collection and MSSNG) and two unselected populations (IMAGEN and Saguenay Youth Study). Statistical models integrating scores of genes encompassed in CNVs were used to explain their effect on autism susceptibility and multiple cognitive domains. Results: Among 9 scores of genes, the "probability-of-being loss-of-function intolerant" (pLI) best explains the effect of CNVs on IQ and autism risk. Deletions decrease IQ by a mean of 2.6 points per point of pLI. The effect of duplications on IQ is three-fold smaller.The odd ratios for autism increases when deleting or duplicating any point of pLI. This increased autism risk is similar in subgroups of individuals below or above median IQ.Once CNV effects on IQ are accounted for, autism susceptibility remains mostly unchanged for duplications but decreases for deletions. Model estimates for autism risk overlap with previously published observations. Deletions and duplications differentially affect social communication, behaviour, and phonological memory, whereas both equally affect motor skills.Conclusions: Autism risk conferred by duplications is less influenced by IQ compared to deletions. CNVs increase autism risk similarly in individuals with high and low IQ. Our model, trained on CNVs encompassing >4,500 genes, suggests highly polygenic properties of gene dosage with respect to autism risk. These models will help interpreting CNVs identified in the clinic.

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“…We used the Brazil High Risk Cohort 65 to replicate findings during childhood/adolescence. For replication of results in middle-age, we used the cohort of parents of the Saguenay Youth Study (SYS) 66 . For older adults, the replication sample was collected by the AIBL study group.…”

Section: Mri Samplementioning

confidence: 99%

Cellular correlates of cortical thinning throughout the lifespan

Vidal-Piñeiro

Parker

Shin

et al. 2019

Preprint

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Changes in cortical thickness occur throughout the lifespan, but the neurobiological substrates are poorly understood. Here, we compared the regional patterns of cortical thinning (Magnetic Resonance Images; >4000 observations) with those of gene expression for several neuronal and non-neuronal cell types (Allen Human Brain Atlas). Inter-regional profiles of cortical thinning (estimated from MRIs) related to expression profiles for marker genes of CA1 pyramidal cells, astrocytes and microglia during development (less thinning, greater gene expression). The same expression -thinning patterns were mirrored in aging, but in the opposite direction. The results were replicated in independent MRI datasets. Further analyses suggested that the cell type -thinning relationship is facilitated by astrocytic metabolic processes in development and neural projection and synaptic changes in aging.Overall, these findings uncover the neurobiological mechanisms underlying cortical thinning across the lifespan and may contribute to our understanding of the molecular pathways involved in neurodevelopmental and neurodegenerative disorders.

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Cohort Profile: The Saguenay Youth Study (SYS)

Cited by 48 publications

References 86 publications

Sex differences in the adolescent brain and body: Findings from the saguenay youth study

Sex differences in the adolescent brain and body: Findings from the saguenay youth study

Effects-sizes of deletions and duplications on autism risk across the genome

Cellular correlates of cortical thinning throughout the lifespan

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