Table 1:
Lead variants and candidate causal genes from the primary meta-analysis.
| Variant | Location (hg38) | A1 | A2 | A1 freq. | Odds ratio (95% CI) | p-value | Nearest gene | FLAMES-prioritized gene | Candidate causal gene(s) |
|---|---|---|---|---|---|---|---|---|---|
| rs149109767 | chr4:3,228,683 | A | AGAG | 8% | 1.090 (1.065, 1.118) | 2.2 × 10−12 | HTT | HTT | HTT |
| rs9862795 | chr3:49,878,073 | T | A | 49% | 1.045 (1.031, 1.059) | 1.0 × 10−10 | CAMKV | N/A | CAMKV |
| rs809955 | chr4:139,953,606 | A | G | 37% | 0.956 (0.943, 0.969) | 1.5 × 10−10 | MAML3 | MAML3 | MAML3 |
| rs359243 | chr2:60,248,374 | C | T | 62% | 1.044 (1.030, 1.058) | 6.9 × 10−10 | BCL11A | BCL11A | BCL11A |
| rs62100765 | chr18:53,209,048 | T | C | 40% | 1.043 (1.029, 1.057) | 1.5 × 10−9 | DCC | DCC | DCC |
| rs6748639 | chr2:31,697,603 | T | C | 26% | 1.048 (1.032, 1.064) | 1.5 × 10−9 | SRD5A2 | SPAST | SDR5A2, SPAST |
| rs71953676 | chr14:69,077,365 | C | CTTATTTAT | 42% | 1.052 (1.035, 1.069) | 2.0 × 10−9 | DCAF5 | N/A | N/A |
| rs34237396 | chr11:62,760,731 | A | AT | 54% | 0.960 (0.948, 0.973) | 2.0 × 10−9 | POLR2G | N/A | N/A |
| rs1443914 | chr13:53,343,095 | C | T | 52% | 0.960 (0.948, 0.973) | 2.1 × 10−9 | OLFM4 | PCDH8 | N/A |
| rs140473396 | chr10:103,036,128 | GAC | G | 10% | 0.929 (0.907, 0.952) | 2.2 × 10−9 | CNNM2 | N/A | N/A |
| rs1788821 | chr18:23,540,905 | G | A | 66% | 0.958 (0.945, 0.972) | 2.6 × 10−9 | NPC1 | NPC1 | NPC1 |
| rs34261763 | chr17:67,873,992 | CTGGA | C | 22% | 1.058 (1.038, 1.077) | 3.5 × 10−9 | BPTF | BPTF | BPTF |
| rs6657341 | chr1:174,306,124 | A | G | 45% | 0.961 (0.949, 0.974) | 7.1 × 10−9 | RABGAP1L | N/A | GPR52 |
| rs62194170 | chr2:161,009,993 | A | G | 20% | 0.952 (0.937, 0.968) | 7.5 × 10−9 | TANK | N/A | N/A |
| rs4787316 | chr16:25,341,698 | T | C | 14% | 1.055 (1.036, 1.075) | 9.3 × 10−9 | ZKSCAN2 | ZKSCAN2 | N/A |
| rs3742015 | chr12:109,579,320 | C | T | 45% | 1.038 (1.025, 1.052) | 1.8 × 10−8 | MVK | MMAB | N/A |
| rs34811474 | chr4:25,407,216 | A | G | 21% | 0.954 (0.939, 0.970) | 1.9 × 10−8 | ANAPC4 | ANAPC4 | N/A |
| rs6977550 | chr7:23,865,825 | G | A | 50% | 1.042 (1.027, 1.057) | 1.9 × 10−8 | STK31 | STK31 | NPY |
| rs28645908 | chr8:138,519,579 | A | G | 9% | 0.935 (0.913, 0.957) | 2.3 × 10−8 | FAM135B | COL22A1 | N/A |
| rs10166361 | chr2:143,500,256 | T | C | 39% | 0.960 (0.946, 0.974) | 2.4 × 10−8 | ARHGAP15 | ARHGAP15 | KYNU |
| rs2734833 | chr11:113,422,198 | A | G | 56% | 0.962 (0.949, 0.976) | 2.9 × 10−8 | DRD2 | DRD2 | DRD2, NCAM1 |
| rs11167957 | chr5:147,056,960 | T | C | 60% | 1.039 (1.025, 1.053) | 3.2 × 10−8 | PPP2R2B | PPP2R2B | PPP2R2B, GPR151 |
| rs12587412 | chr14:46,803,220 | G | T | 56% | 0.963 (0.950, 0.976) | 3.3 × 10−8 | MDGA2 | MDGA2 | MDGA2 |
| rs34683740 | chr1:95,843,084 | C | T | 7% | 1.072 (1.046, 1.100) | 4.3 × 10−8 | RWDD3 | RP11–147C23.1 | N/A |
| rs11664242 | chr18:37,596,198 | G | A | 72% | 0.960 (0.946, 0.974) | 4.3 × 10−8 | CELF4 | CELF4 | CELF4 |
| rs325506 | chr5:104,676,602 | G | C | 58% | 0.964 (0.951, 0.977) | 4.9 × 10−8 | NUDT12 | N/A | N/A |
freq. = frequency.