COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome.
Although schizophrenia is strongly hereditary, there are limited data regarding biological risk factors and pathophysiological processes. In this longitudinal study of adolescents with 22q11.2 deletion syndrome, we identified the catechol-O-methyltransferase low-activity allele (COMT(L)) as a risk factor for decline in prefrontal cortical volume and cognition, as well as for the consequent development of psychotic symptoms during adolescence. The 22q11.2 deletion syndrome is a promising model for identifying biomarkers related to the development of schizophrenia.
Gothelf
Doron
D
Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, 401 Quarry Road, Stanford, California 94305-5795, USA.
Eliez
Stephan
S
Thompson
Tracy
T
Hinard
Christine
C
Penniman
Lauren
L
Feinstein
Carl
C
Kwon
Hower
H
Jin
Shuting
S
Jo
Booil
B
Antonarakis
Stylianos E
SE
Morris
Michael A
MA
Reiss
Allan L
AL
D000293:Adolescent; D000328:Adult; D000704:Analysis of Variance; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009483:Neuropsychological Tests; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests; D011569:Psychiatric Status Rating Scales; D012307:Risk Factors
D002394:Catechol O-Methyltransferase