The Abelson helper integration site 1 (AHI1) gene locus on chromosome 6q23 is among a group of candidate loci for schizophrenia susceptibility that were initially identified by linkage followed by linkage disequilibrium (LD) mapping, and subsequent replication of the association in an independent sample. Here, we present results of a replication study of AHI1 locus markers, previously implicated in schizophrenia, in a large European sample (in total 3,907 affected and 7,429 controls). Furthermore, we perform a meta-analysis of the implicated markers in 4,496 affected and 18,920 controls. Both the replication study of new samples and the meta-analysis show evidence for significant overrepresentation of all tested alleles in patients compared with controls (meta-analysis; P=8.2×10-5–1.7×10-3, common OR=1.09-1.11). The region contains two genes, AHI1and C6orf217, and both genes – as well as the neighbouring phosphodiesterase 7B (PDE7B) - may be considered candidates for involvement in the genetic aetiology of schizophrenia.
GROUP Investigators (2010). A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia. Human Molecular Genetics, 19(7), 1379-1386. https://doi.org/10.1093/hmg/ddq009