RT Journal Article
SR Electronic
T1 Identifying genetic variants associated with cerebellar volume in 33,265 individuals from the UK-Biobank
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 2020.11.24.393249
DO 10.1101/2020.11.24.393249
A1 Tom Chambers
A1 Valentina Escott-Price
A1 Sophie Legge
A1 Emily Baker
A1 Krish D. Singh
A1 James TR Walters
A1 Xavier Caseras
A1 Richard JL Anney
YR 2020
UL http://biorxiv.org/content/early/2020/11/24/2020.11.24.393249.abstract
AB There is expanding interest in researching the cerebellum given accumulating evidence of its important contributions to cognitive and emotional functions, in addition to more established sensorimotor roles. While large genome-wide association studies (GWAS) have shed light on the common allele architecture of cortical and subcortical brain structures, the cerebellum remains under investigated. We conducted a meta-GWAS of cerebellar volume in 33,265 UK-Biobank European participants. Results show cerebellar volume to be moderately heritable (h2SNP=50.6%). We identified 33 independent genome-wide associated SNPs with total cerebellar volume, with 6 of these SNPs mapped to protein-coding genes and 5 more shown to alter cerebellar gene expression. We highlight 21 unique candidate genes for follow-up analysis. Cerebellar volume showed significant genetic correlation with brainstem, pallidum and thalamus volumes, but no significant correlations with neuropsychiatric phenotypes. Our results provide important new knowledge of the genetic architecture of cerebellar volume and its relationship with other brain phenotypes.Competing Interest StatementJTRW has received grant funding from Takeda Pharmaceutical Company for research unrelated to this work. All other authors declare no competing interests.