Journal Article


Aiden Corvin
Michael Gill
John L Waddington
Eadbhard O'Callaghan
Niall Crumlish
Patrizia Baldwin
David Meagher
John Quinn
Paul Scully
Sarah Clarke
and 7 others



genetics psychology genetic predisposition to disease chi3l1 protein human psychiatric status rating scales lectins heterozygote detection cell survival male ethnology rna binding proteins pa2g4 protein human risk factors polymorphism single nucleotide phenotype alleles schizophrenia cross cultural comparison asian continental ancestry group european continental ancestry group adaptor proteins signal transducing social environment promoter regions genetic core binding factor alpha 2 subunit runx1 protein human humans genotype adipokines glycoproteins female schizophrenic psychology

Chitinase-3-like 1 (CHI3L1) gene and schizophrenia: genetic association and a potential functional mechanism. (2007)

Abstract Gene expression data and association analyses in two Chinese samples implicate chitinase 3-like 1 (CHI3L1), a cellular survival gene, in schizophrenia susceptibility. We tested whether the association data are robust to replication in a Caucasian schizophrenia sample and performed a comprehensive investigation of common genetic variation at the locus. In a sample of 375 case and 812 control subjects we identified significant association with the same risk allele at the promoter single nucleotide polymorphism (SNP) associated in the original study (rs10399805; p = .018) and with another SNP at intron 7 of CHI3L1 (rs2275351; p = .008). The rs10399805 SNP is located at position -247 and disrupts the C/EBP-AML-1 binding site in the gene promoter; the risk allele is predicted to increase CHI3L1 expression, as has been reported in several postmortem schizophrenia studies. Carriers of the risk variant presented with fewer positive symptoms and relatively spared cognitive performance compared with other schizophrenia patients. These findings support a functional mechanism for involvement of CHI3L1 in schizophrenia susceptibility, possibly contributing to a less severe illness. The associated variants in this study are not well tagged by all Whole-Genome Association (WGA) platforms, suggesting additional genotyping may be necessary despite the imminent availability of WGA data from large SZ samples. Because CHI3L1 may be involved in transmission of stress-induced cellular responses, studies of interaction with known environmental risk factors may also be warranted.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Aiden Corvin, Michael Gill, John L Waddington, Eadbhard O'Callaghan, Niall Crumlish, Patrizia Baldwin, David Meagher, John Quinn, Paul Scully, Sarah Clarke and 7 others

Experts in our system

Aiden Corvin
Trinity College Dublin
Total Publications: 190
Michael Gill
Trinity College Dublin
Total Publications: 260
John L Waddington
Royal College of Surgeons in Ireland
Total Publications: 157
Eadbhard O'Callaghan
University College Dublin
Total Publications: 37
Patrizia A Baldwin
Royal College of Surgeons in Ireland
Total Publications: 6
David Meagher
University of Limerick
Total Publications: 101
P J Scully
Royal College of Surgeons in Ireland
Total Publications: 10