title: SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.
abstract: Autism is a severe neurodevelopmental disorder with a complex genetic predisposition. Linkage findings from several genome scans suggest the presence of an autism susceptibility locus on chromosome 2q24-q33, making this region the focus of candidate gene and association studies. Recently, significant association with autism has been reported for single-nucleotide polymorphisms (SNPs) in the SLC25A12 and CMYA3 genes on chromosome 2q. We attempted to replicate these findings in the collection of families from the International Molecular Genetic Study of Autism Consortium (IMGSAC), using the transmission disequilibrium test and case-control comparison. Our study failed to reveal any significant association for the SNPs tested at either locus, suggesting that these variants are unlikely to play a major role in genetic susceptibility to autism in our sample.
authors.affiliation: Department of Biology, University of Bologna, Bologna, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Blasi
authors.forename: Elena
authors.initials: E
authors.lastname: Bacchelli
authors.forename: Simona
authors.initials: S
authors.lastname: Carone
authors.forename: Claudio
authors.initials: C
authors.lastname: Toma
authors.forename: Anthony P
authors.initials: AP
authors.lastname: Monaco
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Bailey
authors.forename: Elena
authors.initials: E
authors.lastname: Maestrini
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007391:International Cooperation; D060588:LIM Domain Proteins; D026901:Membrane Transport Proteins / Q000235:genetics*; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D004268:DNA-Binding Proteins; D060588:LIM Domain Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D009687:Nuclear Proteins; C114606:SLC25A12 protein, human; C500306:XIRP2 protein, human