Image via Wikipedia Amidst all the genome-wide ‘snp-ing’ going on of late (my 23-and-me data should arrive in a couple of weeks), Walsh and colleagues provide an incredible trove of structural variation (deletions/insertions in the size range of more than 100kbp but less than 100Mbp) that is 3- to 4-fold enriched in patients with adult onset and childhood onset schizophrenia. Their paper, “Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia” (DOI 10.1126/science.1155174) uses a variety of genome hybriziation techniques to map novel variants and finds, amazingly, that many of the hits are within genes that function in common pathways of brain development and synaptic function. The authors admit that it is hard to ascribe a population risk value to any one of these variants, but the biochemical pathways suggest that the genes that were identified by this method deserve a great deal of attention in the basic and clinical genetic research community.
Genome-wide assesment of structural variation yields clues to development of schizophrenia
March 28, 2008 by dendrite
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