Journal Article


Derek W Morris
Aiden P Corvin
Gary Donohoe
Michael Gill
Matthew Hill
William P Gilks



transcription factor reporter assay cell line linkage disequilibrium gene expression cell division cell cycle genome wide association study

Functional investigation of a schizophrenia GWAS signal at the CDC42 gene. (2012)

Abstract SNP rs2473277 upstream of the cell division cycle 42 (CDC42) gene was associated with schizophrenia in a recent genome-wide association study (GWAS). Reduced expression of CDC42 in schizophrenia has previously been reported. Our objective was to test whether the associated SNP affected CDC42 expression. Two available SNP × gene expression datasets were accessed to test the effect of rs2473277 on CDC42 expression: (i) the mRNA by SNP Browser, which presents results of a genome-wide linkage study of gene expression, and (ii) the Genevar HapMap expression dataset. rs2473277 is in strong linkage disequilibrium (LD) with the SNP rs2473307 (r(2) =0.96), which is predicted to affect transcription factor binding. rs2473307 was directly tested for allelic effects on gene expression using a gene reporter assay in a human neuronal cell line. In both datasets, the schizophrenia risk allele at rs2473277 was associated with a reduction in CDC42 mRNA levels. In the reporter gene assay the risk allele at rs2473307 similarly reduced gene expression. We found evidence that rs2473307, in strong LD with the schizophrenia associated SNP rs2473277, is a functional variant at CDC42 that may increase risk for schizophrenia by reducing expression of CDC42.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Derek W Morris, Aiden P Corvin, Gary Donohoe, Michael Gill, Matthew Hill, William P Gilks

Experts in our system

Derek Morris
Trinity College Dublin
Total Publications: 168
Aiden Corvin
Trinity College Dublin
Total Publications: 218
Gary Donohoe
Trinity College Dublin
Total Publications: 162
Michael Gill
Trinity College Dublin
Total Publications: 294
Matthew Hill
Trinity College Dublin
Total Publications: 10