Schizophrenia-associated HapICE haplotype is associated with increased NRG1 type III expression and high nucleotide diversity.

ABSTRACT: Excitement and controversy have followed neuregulin (NRG1) since its discovery as a putative schizophrenia susceptibility gene; however, the mechanism of action of the associated risk haplotype (HapICE) has not been identified, and specific genetic variations, which may increase risk to schizophrenia have remained elusive. Using a postmortem brain cohort from 37 schizophrenia cases and 37 controls, we resequenced upstream of the type I-IV promoters, and the HapICE repeat regions in intron 1. Relative abundance of seven NRG1 mRNA transcripts in the prefrontal cortex were determined and compared across diagnostic and genotypic groups. We identified 26 novel DNA variants and showed an increased novel variant load in cases compared with controls (χ(2)=7.815; P=0.05). The average nucleotide div

SUBMITTER: Weickert CS 

PROVIDER: S-EPMC3337073 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature