Table 1.
Independent genomic loci significantly associated with BD and risk-taking propensity at a conjunctional false discovery rate <0.05.
| SNP | Position | Nearest gene (Kb) | Functional category | A1/A2 | Beta BD | p BD | Beta risk | p risk | conjFDR | Specificity |
|---|---|---|---|---|---|---|---|---|---|---|
| rs1746662 | 1:33337632 | FNDC5 | Intronic | T/C | 0.05 | 1.5E−04 | 0.01 | 2.9E−05 | 0.017 | BD |
| rs12138864 | 1:33803148 | PHC2 | Intronic | T/C | 0.03 | 2.2E−04 | 0.01 | 1.7E−06 | 0.021 | BD |
| rs12096927 | 1:42841841 | RIMKLA (4.6) | Intergenic | T/C | 0.04 | 5.3E−04 | 0.01 | 5.8E−06 | 0.035 | BD |
| rs2367724 | 1:44107428 | KDM4A (8.4) | Intergenic | T/C | −0.04 | 2.6E−04 | −0.01 | 4.7E−04 | 0.040 | BD, SCZ, ADHD |
| rs1417364 | 1:52263082 | NRD1:RP4-657D16.3 | ncRNA | A/G | 0.06 | 3.7E−04 | 0.01 | 5.2E−04 | 0.043 | BD |
| rs182823 | 1:61680266 | NFIA | Intronic | T/C | −0.03 | 9.8E−04 | 0.01 | 3.6E−04 | 0.049 | BD |
| rs11210099 | 1:73429567 | RP4-660H19.1 (64.7) | Intergenic | T/C | 0.05 | 1.1E−06 | 0.01 | 2.0E−07 | 0.001 | BD, SCZ, ADHD |
| rs34194740 | 1:182658151 | RGS8 (4.4) | Intergenic | T/C | 0.04 | 2.6E−04 | 0.01 | 4.3E−04 | 0.037 | BD |
| rs823130 | 1:205714372 | NUCKS1 | Intronic | T/C | 0.04 | 9.2E−05 | 0.01 | 8.7E−05 | 0.014 | BD, SCZ |
| rs4146671 | 1:243505047 | SDCCAG8 | Intronic | A/G | 0.03 | 5.6E−04 | 0.01 | 1.1E−09 | 0.036 | BD, SCZ |
| rs11124327 | 2:22450730 | AC068490.2 | ncRNA | T/C | 0.03 | 2.0E−04 | 0.01 | 7.6E−06 | 0.020 | BD, SCZ, ADHD |
| rs35605321 | 2:27038638 | CENPA (14.7) | Intergenic | T/G | −0.03 | 7.3E−04 | −0.01 | 2.6E−04 | 0.041 | BD, SCZ |
| rs2194464 | 2:31328651 | GALNT14 | Intronic | T/C | −0.03 | 7.7E−04 | −0.01 | 2.8E−04 | 0.043 | BD |
| rs55951536 | 2:44770733 | CAMKMT | Intronic | T/C | 0.04 | 3.8E−04 | 0.01 | 6.2E−05 | 0.029 | BD |
| rs7591022 | 2:55151266 | EML6 | Intronic | T/C | 0.04 | 1.5E−04 | 0.01 | 8.2E−05 | 0.017 | BD |
| rs1433309 | 2:104059283 | AC092568.1 (51.4) | Intergenic | A/G | −0.03 | 5.7E−04 | −0.01 | 3.7E−04 | 0.039 | BD |
| rs73041394 | 2:185479385 | ZNF804A | Intronic | A/G | −0.04 | 5.6E−05 | −0.01 | 4.3E−05 | 0.010 | BD, SCZ |
| rs55811672 | 2:210269767 | MAP2 (19.0) | Intergenic | A/G | −0.04 | 1.7E−04 | −0.01 | 1.8E−04 | 0.022 | BD |
| rs2047134 | 2:225347713 | CUL3 | Intronic | A/C | 0.04 | 6.8E−05 | 0.01 | 4.1E−04 | 0.037 | BD, SCZ |
| rs1288974 | 3:71128028 | FOXP1 | Intronic | A/G | −0.04 | 6.9E−04 | 0.01 | 4.1E−04 | 0.044 | BD |
| rs9831123 | 3:85052150 | CADM2 | Intronic | T/C | 0.04 | 1.8E−06 | 0.01 | 8.0E−07 | 0.001 | BD, SCZ, ADHD |
| rs9681407 | 3:87210062 | MIR4795 (65.3) | Intergenic | T/C | −0.04 | 3.4E−04 | −0.01 | 8.5E−05 | 0.027 | BD |
| rs836927 | 3:107201428 | RP11-115H18.1 (18.7) | Intergenic | A/C | −0.04 | 9.9E−05 | 0.01 | 2.6E−04 | 0.027 | BD, SCZ |
| rs326359 | 3:107820619 | CD47 (10.8) | Intergenic | A/G | 0.05 | 4.0E−07 | 0.01 | 6.1E−06 | 0.003 | BD |
| rs12054405 | 3:139446347 | RP11-442N1.1 (38.2) | Intergenic | A/G | 0.05 | 5.6E−04 | −0.01 | 2.5E−04 | 0.036 | BD |
| rs359544 | 3:155268588 | PLCH1 | Intronic | T/C | 0.05 | 9.5E−05 | 0.01 | 2.6E−04 | 0.027 | BD |
| rs4350923 | 3:163721718 | RP11-208P4.1 (1.5) | Intergenic | T/C | −0.04 | 1.5E−04 | −0.01 | 9.0E−05 | 0.017 | BD |
| rs4434184 | 3:181422854 | SOX2-OT | ncRNA | A/G | −0.05 | 1.0E−04 | −0.02 | 1.4E−10 | 0.014 | BD |
| rs535066 | 4:46240287 | RP11-320H14.1 (5.3) | Intergenic | T/G | 0.05 | 1.7E−06 | 0.01 | 8.1E−07 | 0.001 | BD, SCZ |
| rs2647256 | 4:106201556 | TET2 (0.6) | Downstream | T/C | 0.05 | 6.1E−06 | 0.02 | 3.3E−10 | 0.003 | BD |
| rs11737121 | 4:147268639 | SLC10A7 | Intronic | A/G | −0.06 | 1.8E−05 | −0.01 | 2.3E−04 | 0.026 | BD |
| rs7696225 | 4:186782340 | SORBS2 | Intronic | A/C | −0.04 | 8.5E−04 | −0.01 | 7.9E−05 | 0.045 | BD |
| rs201587781 | 5:49478612 | EMB (213.4) | Intergenic | A/G | 0.09 | 7.8E−04 | 0.02 | 7.2E−05 | 0.043 | BD, SCZ |
| rs13163662 | 5:113756805 | KCNN2 | Intronic | A/G | 0.04 | 4.5E−05 | −0.01 | 4.1E−04 | 0.036 | BD |
| rs13169274 | 5:137855305 | ETF1 | Intronic | T/C | −0.04 | 2.0E−05 | −0.01 | 9.7E−06 | 0.006 | BD, SCZ |
| rs76157183 | 5:145833478 | TCERG1 | Intronic | T/C | 0.09 | 9.5E−06 | 0.02 | 5.1E−05 | 0.010 | BD |
| rs10053762 | 5:152276650 | AC091969.1 | ncRNA | A/C | −0.03 | 3.4E−04 | −0.01 | 2.2E−04 | 0.027 | BD, SCZ |
| rs2195450 | 5:152871009 | GRIA1 | Intronic | A/G | 0.04 | 7.9E−04 | 0.01 | 5.7E−06 | 0.043 | BD |
| rs10068495 | 5:158232847 | EBF1 | Intronic | A/G | −0.04 | 7.0E−04 | −0.01 | 1.8E−04 | 0.041 | BD |
| rs852944 | 6:72164390 | RP1-288M22.2 | ncRNA | T/C | 0.03 | 3.6E−04 | −0.01 | 2.7E−04 | 0.028 | BD |
| rs1487445 | 6:98565211 | RP11-436D23.1 | ncRNA | T/C | 0.07 | 1.5E−15 | 0.01 | 1.1E−05 | 0.004 | BD |
| rs7739294 | 6:117786542 | GOPC | Intronic | T/C | 0.04 | 3.3E−04 | 0.01 | 3.0E−04 | 0.030 | BD |
| rs6557271 | 6:153437735 | RGS17 | Intronic | T/C | 0.05 | 6.2E−06 | 0.01 | 2.4E−05 | 0.006 | BD |
| rs11768212 | 7:1992582 | MAD1L1 | Intronic | A/C | −0.04 | 1.6E−04 | −0.01 | 7.2E−05 | 0.017 | BD, ADHD |
| rs117450257 | 7:100446237 | SLC12A9:RP11-126L15.4 | ncRNA | A/G | −0.11 | 2.6E−06 | −0.02 | 2.1E−05 | 0.006 | BD, SCZ |
| rs2470943 | 7:104583843 | RP11-325F22.2 | ncRNA | A/G | 0.04 | 5.6E−05 | 0.01 | 4.4E−05 | 0.010 | BD, SCZ |
| rs10251192 | 7:115026459 | RP11-222O23.1 (117.0) | Intergenic | T/C | −0.05 | 1.2E−07 | −0.01 | 1.9E−07 | 0.000 | BD, SCZ |
| rs7785663 | 7:137070298 | DGKI | UTR3 | A/G | −0.04 | 2.4E−04 | −0.01 | 3.0E−05 | 0.022 | BD, SCZ |
| rs80274100 | 7:140122339 | RAB19 | Intronic | A/G | 0.04 | 1.5E−04 | 0.01 | 2.8E−04 | 0.029 | BD |
| rs2924726 | 8:4842010 | CSMD1 | Intronic | A/G | 0.04 | 1.6E−04 | 0.01 | 4.5E−04 | 0.039 | BD |
| rs10106054 | 8:16991254 | RP11-468H14.2 | ncRNA | A/G | −0.04 | 4.1E−04 | −0.01 | 5.1E−04 | 0.042 | BD |
| rs78035175 | 8:26093490 | RP11-98P2.1 (19.0) | Intergenic | A/G | 0.10 | 6.5E−05 | −0.02 | 7.4E−05 | 0.012 | BD |
| rs16883443 | 8:34884281 | AC098612.1 (56.4) | Intergenic | T/G | 0.03 | 2.5E−04 | 0.01 | 6.3E−04 | 0.048 | BD |
| rs11777067 | 8:38298647 | FGFR1 | Intronic | T/C | −0.04 | 1.2E−04 | −0.01 | 1.2E−04 | 0.017 | BD, SCZ |
| rs10957894 | 8:51291872 | SNTG1 | Intronic | A/G | −0.03 | 4.8E−04 | −0.01 | 1.8E−04 | 0.033 | BD |
| rs7813444 | 8:65437506 | RP11-21C4.4 (29.3) | Intergenic | A/G | 0.04 | 3.5E−05 | 0.01 | 8.5E−06 | 0.008 | BD, SCZ |
| rs4623479 | 8:93038708 | RUNX1T1 | Intronic | T/C | 0.04 | 1.6E−04 | 0.01 | 1.6E−04 | 0.020 | BD, ADHD |
| rs7011741 | 8:110812770 | RP11-25D10.2 (18.3) | Intergenic | A/G | 0.03 | 8.5E−04 | 0.01 | 6.7E−05 | 0.045 | BD |
| rs34853464 | 8:143363277 | TSNARE1 | Intronic | T/C | 0.04 | 1.6E−05 | 0.01 | 3.2E−07 | 0.005 | BD, SCZ |
| rs6474852 | 9:14738019 | FREM1 | Intronic | A/G | −0.04 | 2.6E−04 | −0.01 | 1.2E−04 | 0.023 | BD |
| rs10967586 | 9:26895808 | RN7SL100P | ncRNA | A/G | −0.06 | 9.4E−05 | −0.01 | 5.6E−04 | 0.044 | BD, SCZ |
| rs10821122 | 9:96157754 | RNU6-829P (19.8) | Intergenic | T/C | −0.04 | 1.7E−04 | −0.01 | 1.9E−04 | 0.022 | BD, SCZ |
| rs9888039 | 10:56657419 | PCDH15 | Intronic | T/C | −0.04 | 2.0E−04 | −0.01 | 2.8E−04 | 0.029 | BD |
| rs7085104 | 10:104628873 | C10orf32-ASMT | Intronic | A/G | 0.04 | 8.0E−05 | −0.01 | 5.2E−05 | 0.012 | BD, SCZ |
| rs12761679 | 10:106512727 | SORCS3 | Intronic | A/C | 0.05 | 1.5E−05 | 0.01 | 4.1E−06 | 0.005 | BD, SCZ, ADHD |
| rs12359871 | 10:127111493 | RPS27P18 (50.8) | Intergenic | T/C | −0.06 | 4.3E−04 | −0.01 | 4.5E−04 | 0.039 | BD |
| rs10082688 | 11:13266951 | ARNTL (31.3) | Intergenic | T/C | 0.04 | 1.9E−05 | 0.01 | 1.6E−05 | 0.005 | BD |
| rs11038655 | 11:45807100 | CTD-2210P24.4 (13.2) | Intergenic | T/C | −0.07 | 7.2E−05 | 0.02 | 3.0E−05 | 0.011 | BD |
| rs11227478 | 11:66173400 | RP11-867G23.10 (3.2) | Intergenic | A/G | −0.06 | 2.3E−06 | −0.01 | 1.3E−06 | 0.001 | BD |
| rs4988321 | 11:68174189 | LRP5 | Exonic | A/G | 0.08 | 2.2E−04 | −0.02 | 1.7E−04 | 0.021 | BD |
| rs10831015 | 11:88264454 | GRM5 | Intronic | A/C | 0.04 | 2.7E−04 | 0.01 | 7.2E−05 | 0.024 | BD |
| rs7932899 | 11:99152997 | CNTN5 | Intronic | A/G | 0.05 | 4.5E−05 | 0.01 | 1.5E−04 | 0.019 | BD |
| rs61909095 | 12:2301189 | CACNA1C | Intronic | T/C | −0.08 | 9.4E−15 | −0.01 | 1.6E−06 | 0.001 | BD, SCZ |
| rs10842271 | 12:24233843 | SOX5 (129.9) | Intergenic | T/C | −0.03 | 4.1E−04 | −0.01 | 3.4E−04 | 0.033 | BD |
| rs7959452 | 12:69735492 | LYZ (6.6) | Intergenic | A/G | 0.03 | 2.2E−04 | 0.01 | 6.2E−04 | 0.047 | BD |
| rs11178282 | 12:70941195 | PTPRB | Intronic | T/C | 0.05 | 7.7E−04 | 0.01 | 4.0E−04 | 0.046 | BD |
| rs3764002 | 12:108618630 | WSCD2 | Exonic | T/C | −0.04 | 3.3E−04 | −0.01 | 9.7E−05 | 0.027 | BD, ADHD |
| rs3885907 | 13:31314455 | ALOX5AP | Intronic | A/C | −0.04 | 2.3E−05 | −0.01 | 6.7E−06 | 0.006 | BD |
| rs7139704 | 13:47726258 | GNG5P5 (155.0) | Intergenic | A/G | 0.04 | 2.5E−04 | 0.01 | 1.5E−04 | 0.023 | BD |
| rs34012672 | 14:33394294 | NPAS3 (9.8) | Intergenic | T/C | −0.06 | 1.3E−05 | −0.01 | 1.3E−05 | 0.004 | BD, SCZ, ADHD |
| rs3007061 | 14:47238606 | MDGA2 (70.2) | Intergenic | T/C | −0.04 | 2.5E−04 | −0.01 | 2.3E−04 | 0.026 | BD, ADHD |
| rs8005321 | 14:62458832 | SYT16 | Intronic | T/G | −0.04 | 2.1E−05 | −0.01 | 4.2E−05 | 0.009 | BD |
| rs72703614 | 14:89860386 | FOXN3 | Intronic | A/G | −0.04 | 1.1E−04 | −0.01 | 3.0E−05 | 0.014 | BD |
| rs12892189 | 14:104319989 | LINC00637 | ncRNA | A/C | 0.05 | 8.2E−07 | 0.01 | 2.4E−07 | 0.001 | BD, SCZ |
| rs4924676 | 15:42710619 | ZNF106 | Intronic | T/C | 0.07 | 2.0E−05 | 0.02 | 2.9E−05 | 0.007 | BD, SCZ |
| rs4327001 | 15:74010301 | CD276 (3.4) | Intergenic | A/G | 0.04 | 4.5E−05 | 0.01 | 5.4E−05 | 0.010 | BD |
| rs12442456 | 15:78751962 | IREB2 | Intronic | T/G | −0.05 | 2.7E−04 | 0.01 | 2.5E−05 | 0.024 | BD, SCZ |
| rs2071382 | 15:91428197 | FES | Intronic | T/C | −0.05 | 4.2E−08 | −0.01 | 5.6E−07 | 0.000 | BD, SCZ |
| rs6500948 | 16:7371458 | RBFOX1 | Intronic | A/G | −0.04 | 4.0E−04 | −0.01 | 1.3E−04 | 0.030 | BD, SCZ |
| rs2352759 | 16:10215483 | GRIN2A | Intronic | T/C | 0.03 | 3.3E−04 | 0.01 | 4.8E−05 | 0.027 | BD |
| rs62029337 | 16:23820102 | PRKCB (27.2) | Intergenic | T/C | 0.06 | 5.4E−05 | 0.01 | 3.1E−04 | 0.031 | BD |
| rs55910718 | 16:58366306 | GINS3 (60.0) | Intergenic | T/C | 0.04 | 8.9E−04 | 0.01 | 1.6E−04 | 0.046 | BD |
| rs7219635 | 17:1270427 | YWHAE | Intronic | T/C | −0.04 | 6.4E−06 | −0.01 | 7.4E−05 | 0.012 | BD, SCZ |
| rs112562460 | 17:61377135 | TANC2:AC037445.1 | ncRNA | T/C | 0.04 | 6.5E−04 | 0.01 | 1.8E−04 | 0.039 | BD |
| rs9636107 | 18:53200117 | TCF4 | Intronic | A/G | −0.03 | 3.5E−04 | −0.01 | 1.1E−07 | 0.028 | BD, SCZ |
| rs12928 | 18:77663863 | PQLC1 | UTR3 | A/G | −0.03 | 5.5E−04 | −0.01 | 3.0E−04 | 0.036 | BD, SCZ |
| rs1736182 | 19:2798686 | THOP1 | Intronic | T/G | −0.04 | 2.8E−05 | 0.01 | 1.4E−04 | 0.018 | BD |
| rs2304204 | 19:50169020 | IRF3:BCL2L12 | UTR5 | T/C | 0.04 | 7.0E−04 | 0.01 | 1.4E−04 | 0.041 | BD, SCZ |
| rs1291112 | 20:35500151 | RN7SL156P (1.4) | Intergenic | T/C | −0.06 | 1.0E−04 | −0.01 | 3.0E−04 | 0.030 | BD |
| rs12624433 | 20:44680853 | SLC12A5 | Intronic | A/G | 0.05 | 3.6E−06 | 0.01 | 2.5E−04 | 0.027 | BD |
| rs404060 | 22:20164360 | XXbac-B444P24.8 (21.9) | Intergenic | T/C | 0.03 | 6.1E−04 | −0.01 | 3.0E−04 | 0.038 | BD |
| rs13055562 | 22:51133518 | SHANK3 | Intronic | A/G | 0.04 | 8.4E−05 | 0.01 | 3.9E−04 | 0.036 | BD |
The table reports 102 linkage disequilibrium independent genomic loci associated with bipolar disorder and risk-taking propensity at a conjFDR < 0.05. Position denotes the chromosome and location of the lead SNP based on the hg19 assembly. Nearest gene and functional category have been annotated using FUMA (for SNPs located in intergenic regions, distance in Kb from the nearest gene is reported). Beta BD and beta risk show the direction of effect of the A1 allele in the original BD and risk-taking propensity GWAS datasets. The last column shows whether the genomic locus has been found to be specific for BD or whether it was also detected in the analyses conducted between risk-taking and either SCZ or ADHD at a conjFDR < 0.05 (see Supplementary Table 2). The Functional characterization of all loci is reported in Supplementary Table 1.