Rare chromosomal deletions and duplications increase risk of schizophrenia

• Published in: Nature Vol. 455; no. 7210; pp. 237 - 241
• Main Authors: Stone, Jennifer L., O'Donovan, Michael C., Gurling, Hugh, Kirov, George K., Blackwood, Douglas H. R., Corvin, Aiden, Craddock, Nick J., Gill, Michael, Hultman, Christina M., Lichtenstein, Paul, McQuillin, Andrew, Pato, Carlos N., Ruderfer, Douglas M., Owen, Michael J., St Clair, David, Sullivan, Patrick F., Sklar, Pamela, Purcell, Shaun M.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 11.09.2008; Nature Publishing; Nature Publishing Group
• Subjects: Adult and adolescent clinical studies; Biological and medical sciences; Case-Control Studies; Chromosome Deletion; Chromosomes; Chromosomes, Human - genetics; Colleges & universities; Gene Dosage - genetics; Gene Duplication; Genes; Genetic aspects; Genetic Predisposition to Disease - genetics; Genetic variance; Genetic variation; Genome, Human - genetics; Humanities and Social Sciences; Humans; Intellectual disabilities; letter; Medical sciences; MEDICIN; Medicin och hälsovetenskap; MEDICINE; Mental disorders; Models, Genetic; multidisciplinary; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide - genetics; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Psychoses; Risk factors; Schizophrenia; Schizophrenia - genetics; Science; Science (multidisciplinary); Sequence Deletion - genetics; Psychosis; Human; Duplication; Risk factor; Deletion; Schizophrenia; Genetics; Genome

Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73-90% (ref. 1). Inheritance patterns are complex, and the number and type of genetic variants involved are not understood. Copy number variants (CNVs) have...