The genetic architecture of human cortical folding
By
Dennis van der Meer,
Tobias Kaufmann,
Alexey A Shadrin,
Carolina Makowski,
Oleksandr Frei,
Daniel Roelfs,
Jennifer Monereo Sánchez,
David Linden,
Jaroslav Rokicki,
Christiaan de Leeuw,
Wesley K Thompson,
Robert J. Loughnan,
Chun Chieh Fan,
Paul M. Thompson,
Lars T. Westlye,
Ole A. Andreassen,
Anders M Dale
Posted 13 Jan 2021
bioRxiv DOI: 10.1101/2021.01.13.426555
The folding of the human cerebral cortex is a highly genetically regulated process that allows for a much larger surface area to fit into the cranial vault and optimizes functional organization. Sulcal depth is a robust, yet understudied measure of localized folding, previously associated with a range of neurodevelopmental disorders. Here, we report the first genome-wide association study of sulcal depth. Through the Multivariate Omnibus Statistical Test (MOSTest) applied to vertex-wise measures from 33,748 participants of the UK Biobank (mean age 64.3 years, 52.0% female) we identified 856 genetic loci associated with sulcal depth at genome-wide significance (p=5x10-8). Comparison with two other measures of cortical morphology, cortical thickness and surface area, indicated that sulcal depth has higher yield in terms of loci discovered, higher heritability and higher effective sample size. There was a large amount of genetic overlap between the three traits, with gene-based analyses indicating strong associations with neurodevelopmental processes. Our findings demonstrate sulcal depth is a promising MRI phenotype that may enhance our understanding of human cortical morphology.
Download data
- Downloaded 365 times
- Download rankings, all-time:
- Site-wide: 73,103
- In genomics: 5,007
- Year to date:
- Site-wide: 5,076
- Since beginning of last month:
- Site-wide: 39,321
Altmetric data
Downloads over time
Distribution of downloads per paper, site-wide
PanLingua
News
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!