| Title: | The genetic architecture of human cortical folding |
| Journal: | Science Advances |
| Published: | 15 Dec 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/34910505/ |
| DOI: | https://doi.org/10.1126/sciadv.abj9446 |
| URL: | https://escholarship.org/content/qt66f0n4mh/qt66f0n4mh.pdf?t=rfds0j |
| Citations: | 65 (49 in last 2 years) as of 8 Aug 2024 |
Publication 10870
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Abstract
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 multiple 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 U.K. Biobank participants (mean age, 64.3 years; 52.0% female), we identified 856 genome-wide significant loci (P < 5 × 10−8). Comparisons with cortical thickness and surface area indicated that sulcal depth has higher locus yield, heritability, and effective sample size. There was a large amount of genetic overlap between these traits, with gene-based analyses indicating strong associations with neurodevelopmental processes. Our findings demonstrate sulcal depth is a promising neuroimaging phenotype that may enhance our understanding of cortical morphology.</p>
17 Authors
- Dennis van der Meer
- Tobias Kaufmann
- Alexey A. Shadrin
- Carolina Makowski
- Oleksandr Frei
- Daniel Roelfs
- Jennifer Monereo-Sánchez
- David E. J. Linden
- Jaroslav Rokicki
- Dag Alnæs
- Christiaan de Leeuw
- Wesley K. Thompson
- Robert Loughnan
- Chun Chieh Fan
- Lars T. Westlye
- Ole A. Andreassen
- Anders M. Dale
1 Application
| Application ID | Title |
|---|---|
| 27412 | Boosting the power of GWAS using novel statistical tools |
Enabling scientific discoveries that improve human health