Accessibility navigation


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

Durdiaková, J., Warrier, V., Baron-Cohen, S. and Chakrabarti, B. (2014) Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome. Molecular Autism, 5. 25. ISSN 2040-2392

Full text not archived in this repository.

It is advisable to refer to the publisher's version if you intend to cite from this work. See Guidance on citing.

To link to this item DOI: 10.1186/2040-2392-5-25

Abstract/Summary

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.

Item Type:Article
Refereed:Yes
Divisions:Interdisciplinary centres and themes > Centre for Integrative Neuroscience and Neurodynamics (CINN)
Interdisciplinary centres and themes > ASD (Autism Spectrum Disorders) Research Network
Faculty of Life Sciences > School of Psychology and Clinical Language Sciences > Department of Psychology
Faculty of Life Sciences > School of Psychology and Clinical Language Sciences > Neuroscience
Faculty of Life Sciences > School of Psychology and Clinical Language Sciences > Psychopathology and Affective Neuroscience
ID Code:36986
Publisher:BioMed Central

University Staff: Request a correction | Centaur Editors: Update this record

Page navigation