Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism / Joni A. TURUNEN in Autism Research, 1-3 (June 2008)  

Public ISBD [article]  inAutism Research > 1-3 (June 2008) . - p.189-192 Titre : Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism Type de document : Texte imprimé et/ou numérique Auteurs : Joni A. TURUNEN, Auteur ; Karola REHNSTROM, Auteur ; Helena KILPINEN, Auteur ; Mikko KUOKKANEN, Auteur ; Elli KEMPAS, Auteur ; Tero YLISAUKKO-OJA, Auteur Année de publication : 2008 Article en page(s) : p.189-192 Langues : Anglais (eng) Mots-clés : autism Asperger-syndrome SLC25A12 association SNP Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1002/aur.25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=931 [article] Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism [Texte imprimé et/ou numérique] / Joni A. TURUNEN, Auteur ; Karola REHNSTROM, Auteur ; Helena KILPINEN, Auteur ; Mikko KUOKKANEN, Auteur ; Elli KEMPAS, Auteur ; Tero YLISAUKKO-OJA, Auteur . - 2008 . - p.189-192. Langues : Anglais (eng) in Autism Research > 1-3 (June 2008) . - p.189-192 Mots-clés : autism Asperger-syndrome SLC25A12 association SNP Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1002/aur.25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=931

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