Common genetic variants on 5p14.1 associate with autism spectrum disorders

2009

Leadrshp Ed in Neurodev Dis LEND
[email protected]
312-996-1792

Wang K ... Cook EH... (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature, 459(7246),528-33. - To identify common genetic risk factors underlying ASDs, here we present the results of genome-wide association studies on a cohort of 780 families (3,101 subjects) with affected children, and a second cohort of 1,204 affected subjects and 6,491 control subjects, all of whom were of European ancestry. Six single nucleotide polymorphisms between cadherin 10 (CDH10) and cadherin 9 (CDH9)-two genes encoding neuronal cell-adhesion molecules-revealed strong association signals, with the most significant SNP being rs4307059 (P = 3.4 x 10(-8), odds ratio = 1.19). These signals were replicated in two independent cohorts, with combined P values ranging from 7.4 x 10(-8) to 2.1 x 10(-10). Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs.

Peer-reviewed publications in scholarly journals Published/In Press

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