Polymorphisms in xenobiotic metabolism genes and autism

J Child Neurol. 2004 Jun;19(6):413-7. doi: 10.1177/088307380401900603.

Abstract

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 contribute 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 transporters (SLC11A3 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 SLC11A3 (dbSNP rs2304704, P = .07) genes. Although these results might represent chance finding, further investigations of genetic variations of metal metabolism in autism are warranted.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / genetics*
  • Autistic Disorder / physiopathology*
  • Child
  • DNA-Binding Proteins
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Transcription Factor MTF-1
  • Transcription Factors / genetics*
  • Xenobiotics / metabolism*
  • Xenobiotics / poisoning*

Substances

  • DNA-Binding Proteins
  • Transcription Factors
  • Xenobiotics