Genetics and Schizophrenia

This paper reviews modern literature describing the role of genetics in schizophrenia pathogenesis.

The largest population study investigating heritability of psychotic disorders to date reported a monozygotic (MZ) proband concordance rate of 33%, a dizygotic (DZ) proband concordance rate of 7%, and a heritability estimate around 80% for MZ twin pairs. Looking at copy number variants, researchers investigate specific chromosomal differences to better understand the genetic contributions to psychotic disorders. Further, two high-risk regions, one on chromosome 22 and another on 16, are of much interest among psychiatric geneticists due to their strong association with psychotic symptoms.

Classic twin studies and genetic variation analyses enhance our understanding of schizophrenia’s etiology. Recent findings reviewed below highlight a strong genetic contribution to the development of schizophrenia.