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Molecular Autism
Published in: Molecular Autism 1/2014

Open Access 01-12-2014 | Research

Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome

Authors: Jaroslava Durdiaková, Varun Warrier, Simon Baron-Cohen, Bhismadev Chakrabarti

Published in: Molecular Autism | Issue 1/2014

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Abstract

Background

Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS.

Methods

We genotyped three SNPs (rs2056202, rs3765166, and rs6716901) in SLC25A12 in n = 117 individuals with Asperger syndrome (AS) and n = 426 controls, all of Caucasian ancestry.

Results

rs6716901 showed significant association with AS (P = 0.008) after correcting for multiple testing. We did not replicate the previously identified association between rs2056202 and AS in our sample. Similarly, rs3765166 (P = 0.11) showed no significant association with AS.

Conclusion

The present study, in combination with previous studies, provides evidence for SLC25A12 as involved in the etiology of AS. Further cellular and molecular studies are required to elucidate the role of this gene in ASC.
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Metadata
Title
Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome
Authors
Jaroslava Durdiaková
Varun Warrier
Simon Baron-Cohen
Bhismadev Chakrabarti
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Molecular Autism / Issue 1/2014
Electronic ISSN: 2040-2392
DOI
https://doi.org/10.1186/2040-2392-5-25

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