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Genetics and Genomics of Neuro-Psychiatric Diseases, IV: Schizophrenia and Bipolar Disorder 

Genetics and Genomics of Neuro-Psychiatric Diseases, IV: Schizophrenia and Bipolar Disorder
Chapter:
Genetics and Genomics of Neuro-Psychiatric Diseases, IV: Schizophrenia and Bipolar Disorder
Author(s):

Jinbo Fan

DOI:
10.1093/med/9780199896028.003.0034
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date: 30 October 2020

Schizophrenia and bipolar disease constitute are complex causally heterogeneous major neuro-psychiatric disorders. Genetic factors are undisputed supported by enormous data from familial and twin studies. Apart from few rare Monogenic syndromes, large proportion of both schizophrenia and BPD cases are sporadic examples of polygenic/multifactorial inheritance. The recent schizophrenia and bipolar disorder GWAS have provided convincing evidence for more than twenty gene regions involved in diseases susceptibility. In almost every case, the implicated genes within these loci are not identified by prior linkage and candidate gene association studies. Thus, GWAS uncovered new etiological pathways to be explored in future studies. The risk conferred by common variants identified by GWAS is small. Similar as other diseases, it is clear that these GWAS “hits” fail to explain the vast majority of genetic heritability for schizophrenia and bipolar disorder, either individually or collectively. Many more risk genes for schizophrenia and bipolar disorder, probably of small effect, remain to be found. Recent developments in molecular genomic tools and statistical approaches enable investigators to capture almost all genetic information from the genome to find rare and common variants of modest-to-large effect. Identifying susceptibility variants/genes of schizophrenia and bipolar disorder would ultimately lead to improved prevention and treatment for patients with major psychiatric disorders.

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