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

ABSTRACT: 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 evolu

SUBMITTER: Tissink E 

PROVIDER: S-EPMC9288439 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature