Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism.
Two single nucleotide polymorphisms (SNP) within Mitochondrial Aspartate/Glutamate Carrier SLC25A12 gene have recently shown to be strongly associated with autism. Here, we attempted to replicate this finding in two separate Finnish samples 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). We detected association at rs2292813 (FBAT, P=0.0018) in the Finnish autism sample. In, addition other family-based analysis methods supported this finding. By contrast, analysis of the AS sample yielded no evidence for association. This study shows further support that genetic variants within SLC25A12 gene contribute to the etiology of autism.
Department of Molecular Medicine and Institute for Molecular Medicine, Finland, National Public Health Institute, Helsinki, Finland. joni.turunen@helsinki.fi
Joni A
JA
Turunen
Karola
K
Rehnström
Helena
H
Kilpinen
Mikko
M
Kuokkanen
Elli
E
Kempas
Tero
T
Ylisaukko-Oja
D000328:Adult; D020817:Asperger Syndrome / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D055815:Young Adult
D033681:Mitochondrial Membrane Transport Proteins; C114606:SLC25A12 protein, human