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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.

    Segurado R, Conroy J, Meally E, Fitzgerald M, Gill M, Gallagher L.

    Source

    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
    [PubMed - indexed for MEDLINE]

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