Genomic structural variation in psychiatric disorders.
Copy number variants (CNVs) are submicroscopic deletions and duplications of genomic material that were previously thought to be rare phenomena. They have now been robustly associated with a variety of disorders such as autism, schizophrenia, and attention-deficit/hyperactivity disorder through an emerging research base in affective disorders. A complex picture is emerging of a polygenic, heterogeneous model of disease, with CNVs conferring broad susceptibility to a variety of neurodevelopmental disorders, rather than specific disorders per se. Although the insights gleaned thus far only represent a small piece of a much larger puzzle, progress has been rapid and new technologies promise even more insights into these hitherto opaque brain disorders. We will discuss CNVs, the current state of evidence for their role in the pathogenesis of classical psychiatric disorders, and the application of such knowledge in clinical settings.
Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Kings College London, UK. james.rucker@kcl.ac.uk
James J H
JJ
Rucker
Peter
P
McGuffin
D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D001714:Bipolar Disorder / Q000235:genetics; D056915:DNA Copy Number Variations; D003866:Depressive Disorder / Q000235:genetics; D020022:Genetic Predisposition to Disease; D056914:Genomic Structural Variation; D005838:Genotype; D006801:Humans; D001523:Mental Disorders / Q000235:genetics*; D020412:Multifactorial Inheritance; D012559:Schizophrenia / Q000235:genetics