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Effects of a functional COMT polymorphism on brain anatomy and cognitive function in adults with velo-cardio-facial syndrome
- Source :
- Psychological medicine, 38(1), 89-100. Cambridge University Press
- Publication Year :
- 2007
-
Abstract
- BackgroundVelo-cardio-facial syndrome (VCFS) is associated with deletions at chromosome 22q11, abnormalities in brain anatomy and function, and schizophrenia-like psychosis. Thus it is assumed that one or more genes within the deleted region are crucial to brain development. However, relatively little is known about how genetic variation at 22q11 affects brain structure and function. One gene on 22q11 is catechol-O-methyltransferase (COMT): an enzyme that degrades dopamine and contains a functional polymorphism (Val158Met) affecting enzyme activity. Here, we investigated the effect of COMT Val158Met polymorphism on brain anatomy and cognition in adults with VCFS.MethodThe COMT Val158Met polymorphism was genotyped for 26 adults with VCFS on whom DNA was available. We explored its effects on regional brain volumes using hand tracing approaches; on regional grey- and white-matter density using computerized voxel-based analyses; and measures of attention, IQ, memory, executive and visuospatial function using a comprehensive neuropsychological test battery.ResultsAfter corrections for multiple comparisons Val-hemizygous subjects, compared with Met-hemizygotes, had a significantly larger volume of frontal lobes. Also, Val-hemizygotes had significantly increased grey matter density in cerebellum, brainstem, and parahippocampal gyrus, and decreased white matter density in the cerebellum. No significant effects of COMT genotype on neurocognitive performance were found.ConclusionsCOMT genotype effects on brain anatomy in VCFS are not limited to frontal regions but also involve other structures previously implicated in VCFS. This suggests variation in COMT activity is implicated in brain development in VCFS.
- Subjects :
- Adult
Male
Psychosis
Chromosomes, Human, Pair 22
Brain Structure and Function
Grey matter
Neuropsychological Tests
Catechol O-Methyltransferase
behavioral disciplines and activities
Methionine
Gene Frequency
medicine
DiGeorge Syndrome
Humans
Applied Psychology
Catechol-O-methyl transferase
Polymorphism, Genetic
medicine.diagnostic_test
Brain
Valine
Neuropsychological test
Hypertrophy
medicine.disease
R1
Psychiatry and Mental health
medicine.anatomical_structure
Psychotic Disorders
Female
Brainstem
Chromosome Deletion
Psychology
Cognition Disorders
Neuroscience
Neurocognitive
Parahippocampal gyrus
Subjects
Details
- ISSN :
- 00332917
- Volume :
- 38
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Psychological medicine
- Accession number :
- edsair.doi.dedup.....63ee1dc9aba9f2ff16a4b10a5c21605d