Early developmental gene enhancers affect subcortical volumes in the adult human brain.

ABSTRACT: Genome-wide association screens aim to identify common genetic variants contributing to the phenotypic variability of complex traits, such as human height or brain morphology. The identified genetic variants are mostly within noncoding genomic regions and the biology of the genotype-phenotype association typically remains unclear. In this article, we propose a complementary targeted strategy to reveal the genetic underpinnings of variability in subcortical brain volumes, by specifically selecting genomic loci that are experimentally validated forebrain enhancers, active in early embryonic development. We hypothesized that genetic variation within these enhancers may affect the development and ultimately the structure of subcortical brain regions in adults. We tested whether variants in for

SUBMITTER: Becker M 

PROVIDER: S-EPMC4883000 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature