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Genetics of Schizophrenia

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Schizophrenia

Abstract

Many decades of study into the genetic epidemiology of schizophrenia consistently show familial clustering of the disorder, mostly due to genetic contributions. Early clues as to the complex genetic nature of schizophrenia risk are borne out in molecular studies (linkage and association). Linkage studies (optimized for simpler Mendelian conditions) and candidate gene association studies (more useful if a disorder’s pathophysiology is better known), however, are not as fruitful as genome-wide association studies (GWAS). Currently, schizophrenia GWAS are yielding a growing list of replicated individual risk loci (common variant, low effect size, individually detectable) tagged by single nucleotide polymorphisms (SNPs), copy number variant (CNV) risk loci (rare, high effect size, individually detectable), and polygenes (generally common, very low effect size, only detectable en masse). These risk variants and the genes they implicate are complemented by downstream analyses (network and pathway analyses), a variety of other “omics” approaches (e.g., transcriptomics, methylomics, proteomics, metabolomics), and deep re-sequencing studies (aimed at rare variants). Such approaches are shedding an unprecedented amount of light on the pathophysiology of schizophrenia. This includes its pleiotropic relationships to other conditions such as autism spectrum disorders (ASD), bipolar disorder (BP), and intellectual disability (ID). Such knowledge is still in need of further extension (e.g., tethering to gene function and connecting to established environmental risk factors), consolidation (examination in other datasets, such as Asian and African, and replication in even larger meta-analyses), and translation into clinical utility (risk prediction and, especially, improved pharmacological treatments).

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Abbreviations

22q11.21DS:

22q11.21 deletion syndrome

ANK3 :

Ankyrin 3

ASD:

Autism spectrum disorders

BP:

Bipolar disorder

CACNA1C :

Alpha subunit of the L-type calcium channel

CNV:

Copy number variant

DISC1 :

Disrupted in schizophrenia 1

DSM:

Diagnostic and Statistical Manual of Mental Disorders

eQTNs:

Expression quantitative trait nucleotides

GWAS:

Genome-wide association study

GWLS:

Genome-wide linkage scan

GWS:

Genome-wide significant

ISC:

International Schizophrenia Consortium

ITIH :

Inter-alpha-trypsin inhibitor heavy chains

LD:

Linkage disequilibrium

LOD:

Logarithm of the odds ratio

MGS:

Molecular Genetics of Schizophrenia

NRGN :

Neurogranin (protein kinase C substrate, RC3)

NRXN1 :

Neurexin 1

SGENE:

Schizophrenia Genetics Consortium

SNP:

Single nucleotide polymorphism

MAF:

Minor allele frequency

PGC-SZ:

Psychiatric Genomics Consortium for Schizophrenia

TCF4 :

Transcription factor 4

VCFS:

Velocardiofacial syndrome

VIPR2 :

Vasoactive intestinal peptide receptor 2

WGS:

Whole-genome sequencing

xMHC:

Extended major histocompatibility complex

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Authors and Affiliations

  1. Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Chicago, USA

    Alan R. Sanders

  2. University of Chicago, 1001 University Place, Evanston, IL, 60201, USA

    Alan R. Sanders

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  1. Alan R. Sanders
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Correspondence to Alan R. Sanders .

Editor information

Editors and Affiliations

  1. Department of Psychiatry, Rush University, Chicago, Illinois, USA

    Philip G. Janicak

  2. UCLA Semel Institute, Los Angeles, California, USA

    Stephen R. Marder

  3. College of Medicine, University of Florida, Gainesville, Florida, USA

    Rajiv Tandon

  4. Department of Psychiatry and Behavioral Sciences, Northwestern University, Chicago, Illinois, USA

    Morris Goldman

Glossary

ENCODE 

Refers to the Encyclopedia Of DNA Elements project to identify all functional elements in the human genome sequence

Exome sequencing 

The DNA sequencing of the exons in the genome, most often referring to the protein coding exons, i.e., not including all untranslated regions (UTRs)

Expression quantitative trait nucleotides (eQTNs) 

Are SNPs that regulate expression levels of mRNAs or proteins

Genomics 

Refers to mapping or sequencing of whole genomes (as opposed to focusing on an individual gene)

Linkage disequilibrium 

Abbreviated LD, the nonrandom association of alleles (alternative forms) at two or more loci, which descended from an ancestral chromosome

Metabolomics 

The study of the whole set of metabolites (small molecule end products of cellular processes, i.e., metabolism) of a biological unit (cell, tissue, organ, individual)

Methylomics 

The study of DNA methylation (which affects gene expression) on a genome-wide scale

Network or pathway analyses 

The study of a biological system with subunits connected into a larger patterns (networks, pathways), such as a protein–protein interaction network or a gene regulatory (e.g., DNA–protein interaction) network

Nonparametric linkage analysis 

A type of linkage analysis where no assumptions or specifications are made regarding the genetic model for the disorder

Parametric linkage analysis 

A type of linkage analysis where the genetic model for the disorder must be specified, i.e., allele frequency and penetrance (likelihood a risk genotype will be phenotypically expressed) parameters

Pharmacogenetics 

The study of genetic differences affecting metabolic pathways important for drug response (including both therapeutic and side effects)

Polygenic contributions 

The situation when variants at many genes contribute to a phenotype, as opposed to the phenotype arising from variation at one (monogenic) or a few genes (oligogenic)

Polymorphic 

Having more than one form, as in a genetic maker with more than one allele (alternative form)

Proteomics 

The study of an entire complement of proteins of a biological unit

Transcriptomics 

The study of the set of all RNA (mRNA, rRNA, tRNA, and other noncoding RNA) of a biological unit (typically a collection of cells or a tissue), though in many instances limited to the study of mRNA

Whole-genome sequencing 

The DNA sequencing of the whole genome of an individual, i.e., all chromosomes and also mitochondrial DNA

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Sanders, A.R. (2014). Genetics of Schizophrenia. In: Janicak, P., Marder, S., Tandon, R., Goldman, M. (eds) Schizophrenia. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-0656-7_5

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