| Title: | Polygenic Architecture of Human Neuroanatomical Diversity |
| Journal: | Cerebral Cortex |
| Published: | 28 Feb 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/32109272/ |
| DOI: | https://doi.org/10.1093/cercor/bhz241 |
| URL: | https://academic.oup.com/cercor/article-pdf/30/4/2307/33112411/bhz241.pdf |
Publication 5561
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Abstract
We analyzed the genomic architecture of neuroanatomical diversity using magnetic resonance imaging and single nucleotide polymorphism (SNP) data from >26 000 individuals from the UK Biobank project and 5 other projects that had previously participated in the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) consortium. Our results confirm the polygenic architecture of neuroanatomical diversity, with SNPs capturing from 40% to 54% of regional brain volume variance. Chromosomal length correlated with the amount of phenotypic variance captured, r ~ 0.64 on average, suggesting that at a global scale causal variants are homogeneously distributed across the genome. At a local scale, SNPs within genes (~51%) captured ~1.5 times more genetic variance than the rest, and SNPs with low minor allele frequency (MAF) captured less variance than the rest: the 40% of SNPs with MAF <5% captured <one fourth of the genetic variance. We also observed extensive pleiotropy across regions, with an average genetic correlation of rG ~ 0.45. Genetic correlations were similar to phenotypic and environmental correlations; however, genetic correlations were often larger than phenotypic correlations for the left/right volumes of the same region. The heritability of differences in left/right volumes was generally not statistically significant, suggesting an important influence of environmental causes in the variability of brain asymmetry. Our code is available athttps://github.com/neuroanatomy/genomic-architecture.</p>
25 Authors
- Anne Biton
- Nicolas Traut
- Jean-Baptiste Poline
- Benjamin S Aribisala
- Mark E Bastin
- Robin Bülow
- Simon R Cox
- Ian J Deary
- Masaki Fukunaga
- Hans J Grabe
- Saskia Hagenaars
- Ryota Hashimoto
- Masataka Kikuchi
- Susana Muñoz Maniega
- Matthias Nauck
- Natalie A Royle
- Alexander Teumer
- Maria Valdés Hernández
- Uwe Völker
- Joanna M Wardlaw
- Katharina Wittfeld
- Hidenaga Yamamori
- Alzheimer's Disease Neuroimaging Initiative
- Thomas Bourgeron
- Roberto Toro
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