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Table 2 Examples of genetic factors implicated in schizophrenia

From: DNA methylation in schizophrenia: progress and challenges of epigenetic studies

Chromosomal location

Candidate gene

Encoded protein

Major function

Reference(s)

22q11

COMT

Catechol-O-methyltransferase

Monoamine metabolism

[14–16]

6p22

DTNBP1

Dystrobrevin binding protein 1

Organelle biogenesis

[15, 16]

8p12

NRG1

Neuregulin 1

Signal transduction in cell-cell interactions

[14–18]

1q23.3

RGS4

Regulator of G protein signaling 4

Regulation of G proteins

[15, 16]

7q21.1

GRM3

Metabotropic glutamate receptor 3

Excitatory glutamatargic neurotransmission

[15]

13q34

G72

D-Amino acid oxidase activator

Degradation of D-serine, involved in NMDA-type neurotransmission

[14, 15]

8p21.3

PPP3CC

Catalytic subunit of protein phosphatase 3

Regulation of dopaminergic signal transduction

[14, 16]

15q14

CHRNA7

Nicotinic acetylcholine receptor

Cholinergic synaptic transmission

[16]

22q11.21

PRODH

Proline dehydrogenase (oxidase) 1

Proline degradation

[14, 16]

6p21.3-22.1

MHC region

MHC proteins

Crucial parts in immune system

[20, 21, 23]

2q32.1

ZNF804A

Zinc finger protein 804A

Not fully characterized

[19, 22]

18q21.2

TCF4

Transcription factor 4

Involved in nervous system development

[21, 23]

11q24.2

NRGN

Neurogranin

Postsynaptic protein kinase pathway

[23]

1p21.3

MIR137

MicroRNA 137

Not fully characterized

[21]

Copy number or structural variants

Chromosomal location

Representative genes in the region

Reference(s)

1q21.1

CHD1L, GPR89B, BCL9, PRKAB2 and others

[24–26]

15q11.2

CYFIP1, TUBGCP5, NIPA1, NIPA2

[24]

15q13.3

CHRNA7, KLF13, OTUD7A, TRPM1 and others

[24, 26]

16p11.2

KCTD13, MAPK3, TAOK2, CDIPT and others

[29]

22q11.2

COMT, PRODH, SLC25A1, CLDN5, TBX1 and others

[26, 28]

  1. MHC, major histocompatibility complex; NMDA, N-methyl-D-aspartate.