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Genetics of Bipolar Disorder and Schizophrenia 

Genetics of Bipolar Disorder and Schizophrenia
Genetics of Bipolar Disorder and Schizophrenia

Michael E. Talkowski

, Kodavali V. Chowdari

, Hader Mansour

, Konasale M. Prasad

, Joel Wood

, and Vishwajit L. Nimgaonkar

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date: 20 June 2021

In this chapter, we consider the genetic epidemiology of schizophrenia and bipolar disorder. We review their diagnostic history as well as the evidence for shared genetic risk factors and pathophysiology between them. We discuss the strengths and considerable weaknesses of various linkage and association-based research paradigms employed over the years to understand the genetic basis of these disorders, and more recent data robustly implicating shared genetic etiological factors. As the data from large-scale genomic studies accumulate, it has become clear that hundreds to thousands of single nucleotide polymorphisms that are common in the general population confer very small but significant risk to both disorders, while large genomic rearrangements represent highly penetrant, but rare and often non-recurrent genetic contributors. We conclude that significant progress has been made in understanding the complex genetic factors underlying schizophrenia and bipolar disorder, much of which suggests a model of genetic variation spanning the allelic spectrum will ultimately be required to explain both the disease-specific and shared genetic risk contributing to the pathophysiology of these disorders.

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