Genetic analysis of cortical sulci in 1,009 adults

Pizzagalli, Fabrizio; Auzias, Guillaume; Kochunov, Peter; Faskowitz, Joshua; McMahon, Katie L.; Zubicaray, Greig I. de; Martin, Nicholas G.; Wright, Margaret J.; Jahanshad, Neda; Thompson, Paul M.

doi:10.1109/isbi.2016.7493395

Cited by 5 publications

(6 citation statements)

References 22 publications

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“…Here we show that most of the reliable sulcal shape descriptors are also under strong control. In four independent cohorts, we replicated prior findings 39,57,58 and analyzing more than a hundred sulci across the brain, we demonstrated the metrics of the central sulcus shape as the most highly heritable traits 39,57,58 . Heritability of sulcal width was also higher for the right hemisphere than the left hemisphere, consistent with the hypothesis that there is less genetic control over the left hemisphere 59 .…”

Section: Discussionsupporting

confidence: 72%

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The reliability and heritability of cortical folds and their genetic correlations across hemispheres

Pizzagalli¹,

Auzias²,

Yang³

et al. 2019

Preprint

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The structure of the brain's cortical folds varies considerably in human populations. Specific patterns of cortical variation arise with development and aging, and cortical traits are partially influenced by genetic factors. The degree to which genetic factors affect cortical folding patterning remains unknown, yet may be estimated with large-scale in-vivo brain MRI. Using multiple MRI datasets from around the world, we estimated the reliability and heritability of sulcal morphometric characteristics including length, depth, width, and surface area, for 61 sulci per hemisphere of the human brain. Reliability was assessed across four distinct test-retest datasets. We meta-analyzed the heritability across three independent family-based cohorts (N > 3,000), and one cohort of largely unrelated individuals (N~9,000) to examine the robustness of our findings. Reliability was high ( interquartile range for ICC: 0.65-0.85) for sulcal metrics. Most sulcal measures were moderately to highly heritability (0.3-0.7). These genetic influences vary regionally, with the earlier forming sulci having higher heritability estimates. The central sulcus, the subcallosal and the collateral fissure were the most highly heritable regions. For some frontal and temporal sulci, left and right genetic influences did not completely overlap, suggesting some lateralization of genetic effects on the cortex.

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Section: Discussionsupporting

confidence: 72%

“…The surface area is the total area of the sulcal surface. The enclosed CSF volume divided by the sulcal surface area gives the width, a gross approximation of the average width of the CSF in the fold 58 .…”

Section: Mri Image Processing and Sulcal Extractionmentioning

confidence: 99%

The reliability and heritability of cortical folds and their genetic correlations across hemispheres

Pizzagalli¹,

Auzias²,

Yang³

et al. 2019

Preprint

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“…Many earlier works have focused exclusively on the central sulcus 37,40,61 . We have replicated findings of significant heritability in the central sulcus and further, showed that it is indeed the sulcus with the highest heritability estimate across the entire cortex.…”

Section: Discussionmentioning

confidence: 99%

“…The surface area is the total area of the sulcal surface. The enclosed cerebrospinal fluid (CSF) volume divided by the sulcal surface area gives the width, a gross approximation of the average width of the CSF in the fold 61 (see Supplementary Fig. 32 for a representation of sulcal shape descriptors).…”

Section: Methodsmentioning

confidence: 99%

The reliability and heritability of cortical folds and their genetic correlations across hemispheres

et al. 2020

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Cortical folds help drive the parcellation of the human cortex into functionally specific regions. Variations in the length, depth, width, and surface area of these sulcal landmarks have been associated with disease, and may be genetically mediated. Before estimating the heritability of sulcal variation, the extent to which these metrics can be reliably extracted from in-vivo MRI must be established. Using four independent test-retest datasets, we found high reliability across the brain (intraclass correlation interquartile range: 0.65–0.85). Heritability estimates were derived for three family-based cohorts using variance components analysis and pooled (total N > 3000); the overall sulcal heritability pattern was correlated to that derived for a large population cohort (N > 9000) calculated using genomic complex trait analysis. Overall, sulcal width was the most heritable metric, and earlier forming sulci showed higher heritability. The inter-hemispheric genetic correlations were high, yet select sulci showed incomplete pleiotropy, suggesting hemisphere-specific genetic influences.

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“…"Sulcus-based morphometry" provides measures of the cortical fissures of the brain, which have been found to be associated with brain maturation (30), brain alteration with age or pathology (31,32) and correlated in a population of twins (33). We investigated sulci morphometry in controls and synesthetes based on shape descriptors (width, length, mean depth, and total surface area) analyzed for each sulcus.…”

Section: Sulci Extraction and Morphometrymentioning

confidence: 99%

Magnetic resonance imaging does not reveal structural alterations in the brain of synesthetes

Dojat

Pizzagalli

Hupé

2017

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Several publications have reported structural changes in the brain of synesthetes compared to controls, either local differences or differences in connectivity. In the present study, we pursued this quest for structural brain differences that might support the subjective experience of synaesthesia. In particular, for the first time in this field, we investigated brain folding in comparing 45 sulcal shapes in each hemisphere of control and grapheme-color synesthete populations. To overcome flaws relative to data interpretation based only on p-values, common in the synesthesia literature, we report confidence intervals of effect sizes. Moreover, our statistical maps are displayed without introducing the classical, but misleading, p-value level threshold. We adopt such a methodological procedure to facilitate appropriate data interpretation and promote the New Statistics approach. Based on structural or diffusion magnetic resonance imaging data, we did not find any strong cerebral anomaly, in sulci, tissue volume, tissue density or fiber organization that could support synesthetic color experience. Finally, by sharing our complete datasets, we strongly support the multi-center construction of a sufficient large dataset repository for detecting, if any, subtle brain differences that may help understanding how a subjective experience, such as synesthesia, is mentally constructed.

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Genetic analysis of cortical sulci in 1,009 adults

Cited by 5 publications

References 22 publications

The reliability and heritability of cortical folds and their genetic correlations across hemispheres

The reliability and heritability of cortical folds and their genetic correlations across hemispheres

The reliability and heritability of cortical folds and their genetic correlations across hemispheres

Magnetic resonance imaging does not reveal structural alterations in the brain of synesthetes

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