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DNA Sequence Variant Is Associated with Autism

In a genome–wide association study of the largest autism population sample to date, researchers have identified a DNA sequence variant that is associated with this disorder. The variant lies between the cadherin 9 (CDH9) and cadherin 10 (CDH10) genes on chromosome 5. Both these genes encode neuronal cell adhesion molecules. In particular, when the researchers scrutinized the activity of the CDH10 gene in the fetal brain, they discovered that it is most active in key regions that support language, speech and the interpretation of social behavior. In this association study, all subjects were genotyped with the Illumina HumanHap550 BeadChip with over 550,000 single nucleotide polymorphism (SNP) markers. The results of this study were published in the April 28 advance online edition of Nature. [UCLA press release] [CHOP press release] [UPenn press release] [NIH press release] [Chicago Tribune story] [Nature article]