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COMT and MTHFR polymorphisms interaction on cognition in schizophrenia: an exploratory study.

Dimitrios Kontis¹, Eirini Theochari, Helen Fryssira

¹Unit for the Study of Cognition in Psychosis, Psychiatric Hospital of Attica, Athens, Greece. dimkontis@gmail.com

Neuroscience Letters

|January 29, 2013

Summary

Genetic variations in catechol-O-methyltransferase (COMT) and methylenetetrahydrofolate reductase (MTHFR) genes interact to affect cognitive functions like spatial working memory and planning in schizophrenia patients. Contrary to hypotheses, the MTHFR T-allele appeared to lessen the cognitive impact of COMT Val homozygosity.

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Area of Science:

Neuroscience
Genetics
Psychiatry

Background:

Cognitive dysfunction is a core feature of schizophrenia.
Genetic factors, including polymorphisms in catechol-O-methyltransferase (COMT) and methylenetetrahydrofolate reductase (MTHFR) genes, are implicated in schizophrenia pathogenesis.
The interaction between COMT and MTHFR polymorphisms may influence cognitive deficits.

Purpose of the Study:

To investigate the interaction between COMT (rs4680) and MTHFR (rs1801133) gene polymorphisms on cognitive functions in schizophrenia patients and healthy controls.
To explore whether the MTHFR 677T allele exacerbates the effects of COMT Val158 homozygosity on cognition.

Main Methods:

An exploratory study involving 90 schizophrenia patients and 55 healthy volunteers.
Assessment of cognitive functions including psychomotor speed, spatial recognition memory, spatial working memory, and planning (Stockings of Cambridge).
Analysis of IQ scores in a subgroup of patients and examination of COMT×MTHFR genotype interactions.

Main Results:

A significant interaction between COMT and MTHFR polymorphisms was observed for spatial working memory and planning in both groups.
In COMT-Val/Val individuals, the MTHFR-C/C genotype was associated with more spatial working memory errors and poorer planning performance compared to MTHFR-T carriers.
In schizophrenia patients, a significant COMT×MTHFR interaction affected full-scale and performance IQ, with MTHFR-T carriers performing worse than MTHFR-C/C individuals among COMT-Met carriers.

Conclusions:

COMT and MTHFR gene polymorphisms interact to influence cognitive performance.
The MTHFR T-allele appears to attenuate, rather than augment, the cognitive effects associated with COMT Val homozygosity, contrary to the initial hypothesis.
Dopaminergic and intracellular methylation pathways may interact in the cognitive deficits observed in schizophrenia.