Copy number variation and psychiatric disease risk.
Psychiatric disorders are multifactorial in nature with complex genetic architecture. A number of recent studies, building upon earlier findings of copy number variants (CNVs) at the 22q11.2 locus, suggest that rare CNVs represent an important component of genetic heterogeneity in the etiology of complex psychiatric diseases, such as schizophrenia. De novo CNVs are found with higher frequency among sporadic cases, whereas inherited CNVs are enriched among familial cases. Despite substantial progress, a number of challenges remain, such as pinpointing causative relationships between specific gene(s) affected by CNVs and disease phenotypes as well as distinguishing abnormal structural mutations from neutral polymorphisms and establishing a clear association between individual pathogenic CNV and disease phenotypes.
Department of Psychiatry, Columbia University Medical Center, New York, NY, USA.
Rebecca J
RJ
Levy
Bin
B
Xu
Joseph A
JA
Gogos
Maria
M
Karayiorgou
D000483:Alleles; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D056915:DNA Copy Number Variations; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D001523:Mental Disorders / Q000235:genetics; D046228:Microarray Analysis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics*