Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism

Abstract

Two single nucleotide polymorphisms (SNP) within Mitochondrial Aspartate/Glutamate Carrier SLC25A12 gene haverecently shown to be strongly associated with autism. Here, we attempted to replicate this finding in two separate Finnishsamples with autism spectrum disorders. Family-based association analysis of two SNPs, rs2056202 and rs2292813,previously shown to be associated with autism was performed in two samples with different phenotypic characteristics.The samples included 97 families with strictly defined autism and 29 extended families with Asperger syndrome (AS).Wedetected association at rs2292813 (FBAT, P50.0018) in the Finnish autism sample. In, addition other family-basedanalysis methods supported this finding. By contrast, analysis of the AS sample yielded no evidence for association. Thisstudy shows further support that genetic variants within SLC25A12 gene contribute to the etiology of autism. © 2008 International Society for Autism Research, Wiley Periodicals, Inc.