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Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism
Author(s) -
Turunen Joni A.,
Rehnström Karola,
Kilpinen Helena,
Kuokkanen Mikko,
Kempas Elli,
Ylisaukkooja Tero
Publication year - 2008
Publication title -
autism research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.656
H-Index - 66
eISSN - 1939-3806
pISSN - 1939-3792
DOI - 10.1002/aur.25
Subject(s) - autism , single nucleotide polymorphism , genetics , gene , autism spectrum disorder , genetic association , snp , phenotype , glutamate receptor , biology , genotype , psychology , developmental psychology , receptor
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.