Type

Journal Article

Authors

Ricardo Segurado
Michael Gill

Subjects

Psychiatry

Topics
autism neurodevelopmental disorder genetic component association psychiatry mitochondrial gene transmission disequilibrium test

Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31 (2005)

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.
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Full list of authors on original publication

Ricardo Segurado, Michael Gill

Experts in our system

1
Ricardo Segurado
University College Dublin
Total Publications: 59
 
2
Michael Gill
Trinity College Dublin
Total Publications: 273