Table 3 Functional genetic variants successfully identified at psychiatric risk locia

From: Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies

Disease or phenotype

Locus

Functional variants

Target genes

Key methods

References

Schizophrenia, bipolar disorder

1p21.3

1:g.98515539A>T

MIR137/MIR2682

3C, EMSA, reporter assays

119

Schizophrenia, bipolar disorder

2q32.1

rs1344706

ZNF804A

eQTL, EMSA,

52, 136

Schizophrenia

2q32.1

rs359895

ZNF804A

EMSA, reporter assays

135

Bipolar disorder

7q21.11

rs13438494

PCLO

splicing assays

142

Bipolar disorder

7q21.1–q21.2

rs148754219

GRM3

eQTL, EMSA, reporter assays

137

Schizophrenia

10q24.32

VNTR

AS3MT

eQTL, reporter assays

51

Schizophrenia

11q23

rs1076560

DRD2

eQTL, splicing assays

141

Schizophrenia

12p13.3

rs2159100/rs12315711

CACNA1C

3C, reporter assays

120

Schizophrenia

12p13.3

rs1006737/rs4765905

CACNA1C

eQTL, 4C, reporter assays, protein arrays

124

  1. Abbreviations: 3C, chromosome conformation capture; 4C, circular 3C; EMSA, electrophoretic mobility shift assay; eQTL, expression quantitative trait locus.
  2. aNonexhaustive list of examples. It should be noted that some of these genetic loci are positive only in candidate gene studies but not in genome-wide association studies (GWASs).
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