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Modification of cognitive performance in schizophrenia by complexin 2 gene polymorphisms.

Martin Begemann¹, Sabrina Grube, Sergi Papiol

¹Max Planck Institute of Experimental Medicine, Göttingen, Germany.

Archives of General Psychiatry

|September 8, 2010

Summary

Schizophrenia cognitive deficits are linked to the CPLX2 gene. Specific CPLX2 variants influence gene expression and impact cognitive performance in patients.

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Area of Science:

Neuroscience
Genetics
Psychiatry

Background:

Schizophrenia is a complex mental disorder with an unclear biological basis.
The role of specific gene variants in schizophrenia's complex phenotype is largely unknown.

Purpose of the Study:

To establish a schizophrenia patient database for a phenomics approach, linking genetic information with quantifiable phenotypes.
To investigate the complexin 2 gene (CPLX2) in the first phenotype-based genetic association study (PGAS) due to its role in synaptic dysfunction.

Main Methods:

A case-control study analyzed CPLX2 polymorphisms' contribution to cognitive domains in schizophrenia patients.
Mechanistic insights were gained by studying CPLX2 in peripheral blood mononuclear cells, Cplx2-null mutant mice, and transfected cells.
The study involved 1071 schizophrenia patients and 1079 healthy controls, with extensive phenotypic data collection.

Main Results:

Six single-nucleotide polymorphisms (SNPs) in CPLX2 were strongly associated with current cognition in schizophrenia patients.
Cplx2-null mutant mice showed cognitive deficits, particularly when combined with a pubertal brain lesion (a "second hit" model).
A specific SNP (rs3822674) in CPLX2 influenced microRNA-498 binding, gene expression, and was linked to differential CPLX2 expression in blood cells.

Conclusions:

The PGAS approach successfully identified marker-associated clinical and biological traits in schizophrenia.
CPLX2 gene variants modulate posttranscriptional gene expression, influencing current cognitive performance in schizophrenia patients.