Epistasis between catechol-O-methyltransferase and type II metabotropic glutamate receptor 3 genes on working memory brain function

HY Tan, Q Chen, S Sust… - Proceedings of the …, 2007 - National Acad Sciences
HY Tan, Q Chen, S Sust, JW Buckholtz, JD Meyers, MF Egan, VS Mattay
Proceedings of the National Academy of Sciences, 2007National Acad Sciences
Dopaminergic and glutamatergic systems are critical components responsible for prefrontal
signal-to-noise tuning in working memory. Recent functional MRI (fMRI) studies of genetic
variation in these systems in catechol-O-methyltransferase (COMT) and in metabotropic
glutamate receptor mgluR3 (GRM3), respectively, suggest that these genes influence
prefrontal physiological signal-to-noise in humans. Here, using fMRI, we extend these
individual gene findings to examine the combined effects of COMT and GRM3 on …
Dopaminergic and glutamatergic systems are critical components responsible for prefrontal signal-to-noise tuning in working memory. Recent functional MRI (fMRI) studies of genetic variation in these systems in catechol-O-methyltransferase (COMT) and in metabotropic glutamate receptor mgluR3 (GRM3), respectively, suggest that these genes influence prefrontal physiological signal-to-noise in humans. Here, using fMRI, we extend these individual gene findings to examine the combined effects of COMT and GRM3 on dissociable components of the frontoparietal working memory network. We observed an apparent epistatic interaction of these two genes on the engagement of prefrontal cortex during working memory. Specifically, the GRM3 genotype putatively associated with suboptimal glutamatergic signaling was significantly associated with inefficient prefrontal engagement and altered prefrontal-parietal coupling on the background of COMT Val-homozygous genotype. Conversely, COMT Met-homozygous background mediated against the effect of GRM3 genotype. These findings extend putative brain dopaminergic and glutamatergic relationships indexed by COMT and GRM3 to a systems-level interaction in human cortical circuits implicated in working memory dysfunction such as in schizophrenia.
National Acad Sciences