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Lookup NU author(s): Professor Jeremy Parr, Professor Ann Le Couteur
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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.
Author(s): Blasi F, Bacchelli E, Carone S, Toma C, Monaco AP, Bailey AJ, Maestrini E, International Molecular Genetic Study of Autism Consortium (IMGSAC)
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
Year: 2006
Volume: 14
Issue: 1
Pages: 123-126
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/sj.ejhg.5201444
DOI: 10.1038/sj.ejhg.5201444
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