Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31

Am J Psychiatry. 2005 Nov;162(11):2182-4. doi: 10.1176/appi.ajp.162.11.2182.


Objective: Autism is a neurodevelopmental disorder with childhood onset and a known major genetic component. A recent study identified a highly significant association between autism and a two-single-nucleotide-polymorphism haplotype in the SLC25A12 gene, with a homozygote genotype relative risk between 2.4 and 4.8. The authors' goal was to investigate this association with autism in Irish affected child-parent trios because replication in an independent sample is essential in the validation of such potentially important findings.

Method: Markers rs2056202 and rs2292813 were genotyped in a total of 158 trios (442 individuals). The Transmission Disequilibrium Test was used to examine these markers for association with autism.

Results: In agreement with the recent study, the authors found significant association between autism and the C alleles of both rs2056202 and rs2292813 as well as the two-marker haplotype.

Conclusions: These findings provide replication of the association between autism and SLC25A12.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Alleles
  • Autistic Disorder / genetics*
  • Calcium-Binding Proteins / genetics*
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Ireland / ethnology
  • Linkage Disequilibrium / genetics
  • Male
  • Membrane Transport Proteins / genetics*
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins / genetics*
  • Open Reading Frames / genetics
  • Polymorphism, Single Nucleotide
  • Reproducibility of Results
  • Research / statistics & numerical data
  • Whites / genetics


  • Calcium-Binding Proteins
  • Genetic Markers
  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins
  • SLC25A12 protein, human