Duplication of Chromosome 22 Region Thwarts Schizophrenia

Published January 2, 2014 in Simons Foundation Autism Research Institute

Carrying a duplication of the 22q11.2 chromosomal region may protect against schizophrenia, suggests a study published 12 November in Molecular Psychiatry. This is the first evidence of a genetic region that lowers the risk of a disorder rather than increases it. Deletion of this part of chromosome 22 is the strongest known risk factor for schizophrenia, and is also linked to autism, attention deficit hyperactivity disorder and anxiety in childhood. Various other copy number variations (CNVs), or stretches of a chromosome that are deleted or duplicated multiple times in the genome, have been linked to schizophrenia, autism and other neurological conditions. The new study is the first to pinpoint a CNV that lowers the risk of a disorder, however.


Filed under: , , , ,