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.
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).