Many of the genetic variations that increase risk for schizophrenia are rare, thus making it difficult to study their role in the disease. To overcome this, the Psychiatric Genomics Consortium, an international team led by Jonathan Sebat, PhD, at University of California San Diego School of Medicine, began to analyze the genomes of over 41,000 people in the largest genome-wide study of its kind to date. Their study was published November 21 in Nature Genetics and shows various regions of the genome where mutations increase schizophrenia risk between four- and 60-fold.
These mutations are known as copy number variants and are deletions or duplication of the DNA sequence. A copy number variant may affect dozens of genes, or it can disrupt or duplicate a single gene. This type of variation can cause significant alterations to the genome and lead to psychiatric disorders. More studies need to be done to verify this however.
