Genome-wide association study of cerebellar volume provides insights into heritable mechanisms underlying brain development and mental health

Autor: Elleke Tissink, Siemon C. de Lange, Jeanne E. Savage, Douglas P. Wightman, Christiaan A. de Leeuw, Kristen M. Kelly, Mats Nagel, Martijn P. van den Heuvel, Danielle Posthuma
Přispěvatelé: Netherlands Institute for Neuroscience (NIN), Complex Trait Genetics, Amsterdam Neuroscience - Brain Imaging, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Human genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Reproduction & Development (AR&D)
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Tissink, E, de Lange, S C, Savage, J E, Wightman, D P, de Leeuw, C A, Kelly, K M, Nagel, M, van den Heuvel, M P & Posthuma, D 2022, ' Genome-wide association study of cerebellar volume provides insights into heritable mechanisms underlying brain development and mental health ', Communications biology, vol. 5, 710, pp. 1-12 . https://doi.org/10.1038/s42003-022-03672-7
Communications Biology, 5(1). Nature Research
Communications biology, 5:710, 1-12. Nature Research
Tissink, E, de Lange, S C, Savage, J E, Wightman, D P, de Leeuw, C A, Kelly, K M, Nagel, M, van den Heuvel, M P & Posthuma, D 2022, ' Genome-wide association study of cerebellar volume provides insights into heritable mechanisms underlying brain development and mental health ', Communications Biology, vol. 5, no. 1, 710 . https://doi.org/10.1038/s42003-022-03672-7
Communications Biology, 5(1):710. Springer Nature
Communications biology, 5(1). Nature Research
ISSN: 2399-3642
DOI: 10.1038/s42003-022-03672-7
Popis: Cerebellar volume is highly heritable and associated with neurodevelopmental and neurodegenerative disorders. Understanding the genetic architecture of cerebellar volume may improve our insight into these disorders. This study aims to investigate the convergence of cerebellar volume genetic associations in close detail. A genome-wide associations study for cerebellar volume was performed in a discovery sample of 27,486 individuals from UK Biobank, resulting in 30 genome-wide significant loci and a SNP heritability of 39.82%. We pinpoint the likely causal variants and those that have effects on amino acid sequence or cerebellar gene-expression. Additionally, 85 genome-wide significant genes were detected and tested for convergence onto biological pathways, cerebellar cell types, human evolutionary genes or developmental stages. Local genetic correlations between cerebellar volume and neurodevelopmental and neurodegenerative disorders reveal shared loci with Parkinson’s disease, Alzheimer’s disease and schizophrenia. These results provide insights into the heritable mechanisms that contribute to developing a brain structure important for cognitive functioning and mental health.
Databáze: OpenAIRE
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