No Effect of Genome-Wide Significant Schizophrenia Risk Variation at the <i>DRD2</i> Locus on the Allelic Expression of <i>DRD2</i> in Postmortem Striatum.

ABSTRACT: A genome-wide significant association has been reported between non-coding variants at the dopamine D2 receptor (DRD2) gene locus and schizophrenia. However, effects of identified schizophrenia risk alleles on DRD2 function are yet to be demonstrated. Using highly sensitive measures of allele-specific expression, we have assessed cis-regulatory effects associated with genotype at lead SNP rs2514218 on DRD2expression in the adult human striatum. No significant differences were observed in the extent of allelic expression imbalance between samples that were genomic heterozygotes for rs2514218 (where cis-regulatory effects of the risk allele are compared with those of the non-risk allele within individual subjects) and samples that were homozygous for rs2514

SUBMITTER: Toste CC 

PROVIDER: S-EPMC6873021 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature