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Updated: May 17, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Genetics of schizophrenia from a clinicial perspective
Prachi Kukshal1, B K Thelma, Vishwajit L Nimgaonkar
1Department of Genetics, University of Delhi South Campus, New Delhi, India.
Abstract:
Schizophrenia (SZ) is a common disorder that runs in families. It has a relatively high heritability, i.e., inherited factors account for the major proportion of its etiology. The high heritability has motivated gene mapping studies that have improved in sophistication through the past two decades. Belying earlier expectations, it is now becoming increasingly clear that the cause of SZ does not reside in a single mutation, or even in a single gene. Rather, there are multiple DNA variants, not all of which have been identified. Additional risk may be conferred by interactions between individual DNA variants, as well as 'gene-environment' interactions. We review studies that have accounted for a fraction of the heritability. Their relevance to the practising clinician is discussed. We propose that continuing research in DNA variation, in conjunction with rapid ongoing advances in allied fields, will yield dividends from the perspective of diagnosis, treatment prediction through pharmacogenetics, and rational treatment through discoveries in pathogenesis.
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