Association of autism severity with a monoamine oxidase A functional polymorphism.
A functional polymorphism (the upstream variable-number tandem repeat region, or uVNTR) in the monoamine oxidase A (MAOA) promoter region has been reported to be associated with behavioral abnormalities as well as increased serotonergic responsivity. We examined the relation between MAOA-uVNTR alleles and the phenotypic expression of autism in 41 males younger than 12.6 years of age. Children with the low-activity MAOA allele had both lower intelligence quotients (IQ) and more severe autistic behavior than children with the high-activity allele. In follow-up testing of 34 of the males at the 1-year time-point, those with the low-activity allele showed a worsening in IQ but no change in the severity of their autistic behavior. We conclude that functional MAOA-uVNTR alleles may act as a genetic modifier of the severity of autism in males.
Cohen
I L
IL
Departments of Psychology, Cytogenetics and Human Genetics, Staten Island, New York 10314, USA. Ira.Cohen@omr.state.ny.us
Liu
X
X
Schutz
C
C
White
B N
BN
Jenkins
E C
EC
Brown
W T
WT
Holden
J J A
JJ
D000203:Activities of Daily Living; D000223:Adaptation, Psychological; D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics* / Q000523:psychology; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D005260:Female; D005500:Follow-Up Studies; D005824:Genetics, Behavioral; D005838:Genotype; D006801:Humans; D007361:Intelligence Tests; D007807:Language Tests; D008137:Longitudinal Studies; D008297:Male; D018598:Minisatellite Repeats; D008995:Monoamine Oxidase / Q000235:genetics* / Q000502:physiology; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011581:Psychological Tests; D012720:Severity of Illness Index; D012737:Sex Factors
D008995:Monoamine Oxidase