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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.

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