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Sequence Variation Associated with SLC12A5 Gene Expression Is Linked to Brain Structure and Function in Healthy
Michael D Gregory1, J Shane Kippenhan1, Joseph H Callicott2
1Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, MD, USA.
Cerebral Cortex (New York, N.Y. : 1991)
|January 23, 2019
Summary
The rs3918242 gene variant impacts brain structure and function, specifically gray matter volume in the insula and prefrontal cortex. This finding may link SLC12A5 to neuropsychiatric disorders.
Area of Science:
- Neurogenetics
- Neuroimaging
- Psychiatric Genetics
Background:
- A specific gene variant, rs3918242, in the Matrix Metalloproteinase-9 (MMP9) promoter has conflicting reports regarding its effect on MMP9 expression and association with schizophrenia.
- Previous studies suggest rs3918242 influences SLC12A5 expression, a gene linked to schizophrenia, rather than MMP9 expression in brain tissue.
Purpose of the Study:
- To investigate the effects of the rs3918242 genotype on brain structure and function in healthy individuals.
- To explore the relationship between rs3918242 and brain imaging measures, including gray matter volume and working memory activation.
Main Methods:
- Structural MRI (N=298), functional MRI (fMRI) during an N-back task (N=554), and magnetoencephalography (MEG) during the same task (N=190) were used.
- Participants were stratified by rs3918242 genotype.
- Data were analyzed using discovery and replication samples, with meta-analysis for combined IPL GMV.
Main Results:
- The rs3918242 genotype was significantly associated with bilateral insula and dorsolateral prefrontal cortex gray matter volume (GMV).
- Meta-analysis revealed an association with inferior parietal lobule (IPL) GMV.
- Both fMRI and MEG data showed rs3918242 was associated with right IPL activation during a working memory task, replicated across cohorts and modalities.
Conclusions:
- The rs3918242 genotype is linked to specific brain structural and functional differences, particularly in regions involved in working memory.
- These findings support further investigation into the role of SLC12A5 in brain structure and function within the context of neuropsychiatric diseases.
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