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Chunk #12 — Pathway analysis of cell-adhesion genes

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Common genetic variants on 5p14.1 associate with autism spectrum disorders.
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ACC cohort using a formal pathway-association method for case-control data sets43. This method examines whether statistics for a group of genes have modest yet consistent deviation from what is expected by chance, through shuffling case/control labels many times, each time recalculating P values for all SNPs. We confirmed that the set of cadherin genes is associated with ASDs (permutation P = 0.02), whereas the combined cadherin/neurexin genes show more significant association (permutation P = 0.002). Therefore, our pathway analysis suggests that neuronal cell-adhesion molecules may be collectively associated with ASDs.