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. 2017 Jan 3;22(4):497–511. doi: 10.1038/mp.2016.241

Table 3. Functional genetic variants successfully identified at psychiatric risk locia.

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

Abbreviations: 3C, chromosome conformation capture; 4C, circular 3C; EMSA, electrophoretic mobility shift assay; eQTL, expression quantitative trait locus.

a

Nonexhaustive 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).