Original Article Polymorphisms in Xenobiotic Metabolism Genes and Autism

Autism is a neurodevelopmental syndrome defined by deficits in social reciprocity and communication and by unusual repetitive behaviors. Although there is an underlying genetic predisposition, the etiology of autism is currently unknown. A recent increase in prevalence suggests that genetically determined vulnerability to environmental exposure might con-tribute to the causation of autism. We performed family-based association studies of polymorphisms in metal-regulatory transcription factor 1(MTF1), a multispecific organic anion transporter (ABCC1), proton-coupled divalent metal ion trans-porters (SLCI IA3 and SLC11A2), paraoxonase 1 (PON1), and glutathione S-transferase (GSTP1) genes in 196 autistic disorder families. There was deviation from the expected pattern of transmission for polymorphisms in MTF1 (Single nucleotide polymorphism database reference identification number, dbSNP rs3790625, P =.02) and divalent metal ion transporter SLCI IA3 (dbSNP rs2304704, P =.07) genes. Although these results might represent chance finding, further investigations of genetic variations of metal metabolism in autism are warranted. (J Child Neurol 2004;19:413-417). Autism spectrum disorders, which include autism, Asperger’s syndrome, and pervasive developmental disorder not oth-erwise specified, are behaviorally defined neurodevelop-mental disorders. The causes and contributing factors fo