Genome-Wide Association Identifies Genes Linked to Autism

By Ashley Chang, Genetics ’15

Biostatisticians led by Knut Wittkowski at Rockefeller University Hospital have employed new methods of genome-wide association studies to identify genes that they believe to be associated with autism. The researchers compared genomes of patients with varying degrees of autism to healthy patients and were able to identify genetic variations that seem to be linked to the pathology of neural development in young children. The technique used to identify these genes is unique. Rather than traditional genome association, which searches for single nucleotide polymorphisms (SNPs), this new method looks for combinations of several SNPs that are common in patients with a disease. Wittkowski also compared this new autism profile to patients with childhood epilepsy and found mutations in similar genes that control axonal guidance and calcium signaling. Both of these are important in the developing brain to ensure that the correct connections are made.

If these results are confirmed with clinical studies, this could allow for earlier treatment. Specifically, researchers at Rockefeller believe that due to the genetic similarities between autism and epilepsy, pharmaceutical interventions normally used for epilepsy could be successfully used to treat or prevent the onset of autism. These drugs would need to be employed between 9 and 24 months, as this is when the neural degradation that solidifies autism is active. In a broader sense, this type of statistical study could be used to understand a multitude of diseases, and has the potential to change the way that we treat diseases that turn out to be genetically similar.

Read the paper:

K M Wittkowski, V Sonakya, B Bigio, M K Tonn, F Shic, M Ascano, C Nasca, G Gold-Von Simson. A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autismTranslational Psychiatry, 2014; 4 (1): e354 DOI:10.1038/tp.2013.124

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