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Am J Psychiatry. 2005 Nov;162(11):2182-4.

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

Author information

1
Department of Genetics, Trinity College, Dublin 2, Ireland. rsegurdo@tcd.ie

Abstract

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.

PMID:
16263864
DOI:
10.1176/appi.ajp.162.11.2182
[Indexed for MEDLINE]

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