Table 2.
GWAS-eQTL Co-localized Loci
| Chr | GWAS Locus Start | GWAS Locus End | GWAS Lead SNP | GWAS p Value | eSNP | eSNP p Value | Primary/Conditional | PPH4 | Gene | Relevant Tissue/Cell Type/Developmental Period |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 2372401 | 2402501 | rs4648845 | 4.03E−09 | rs12037821 | 4.9E−04 | conditional | 0.87 | SLC35E2 | –/–/early mid-prenatal |
| 1 | 8355697 | 8638984 | rs301797 | 2.03E−09 | rs138050288 | 1.8E−04 | primary | 0.95 | RERE | –/–/– |
| 1 | 30412551 | 30443951 | rs1498232 | 1.28E−09 | rs2015244 | 1.8E−08 | primary | 0.99 | PTPRU | –/neurons /early mid-prenatal |
| 1 | 163582923 | 163766623 | rs7521492 | 5.64E−07 | rs10799961 | 3.18E−11 | primary | 0.91 | PBX1 | –/–/early prenatal |
| 1 | 205015255 | 205189455 | rs16937 | 8.69E−07 | rs12724651 | 7.31E−07 | primary | 0.89 | TMEM81 | –/neurons/– |
| rs12031350 | 8.15E−06 | conditional | 0.87 | RBBP5 | –/–/– | |||||
| 1 | 214137889 | 214163689 | rs7529073 | 9.69E−07 | rs1431983 | 1.67E−04 | conditional | 0.93 | PROX1-AS1 | cerebellar hemisphere/neurons/adult |
| 2 | 73194203 | 73900439 | rs56145559 | 8.42E−08 | rs11679809 | 1.85E−34 | primary | 0.86 | ALMS1P | testis/–/– |
| 2 | 110262036 | 110398236 | rs9330316 | 7.69E−08 | rs892464 | 2.35E−26 | primary | 0.92 | SEPT10 | –/–/late prenatal |
| 2 | 198148577 | 198835577 | rs6434928 | 1.48E−11 | rs12621129 | 6.06E−12 | primary | 0.94 | SF3B1 | –/–/– |
| 2 | 200715237 | 201247789 | rs281768 | 1.78E−14 | rs35220450 | 3.46E−14 | primary | 0.95 | FTCDNL1, AC073043.2 | –/–/adult |
| rs186546506 | 8.77E−04 | conditional | 0.83 | LINC01792, AC007163.3 | putamen (basal ganglia)/ –/adult | |||||
| 2 | 208371631 | 208531731 | rs2709410 | 5.75E−07 | rs34171849 | 5.86E−17 | primary | 0.88 | METTL21A | –/–/– |
| rs2551656 | 2.85E−09 | primary | 0.86 | CREB1 | –/–/early prenatal | |||||
| 2 | 220033801 | 220071601 | rs6707588 | 9.51E−07 | rs13404754 | 1.08E−09 | primary | 0.92 | CNPPD1 | –/–/– |
| 3 | 36843183 | 36945783 | rs75968099 | 3.39E−12 | rs9834970 | 1.88E−05 | primary | 0.94 | DCLK3 | nerve - tibial /neurons/infant |
| 3 | 52281078 | 53539269 | rs2535627 | 3.96E−11 | rs6801235 | 2.81E−08 | conditional | 0.86 | PPM1M | –/neurons/late prenatal |
| 3 | 63792650 | 64004050 | rs832187 | 2.58E−08 | rs113386200 | 1.95E−12 | primary | 0.98 | THOC7 | –/–/– |
| 3 | 135807405 | 136615405 | rs7432375 | 5.27E−11 | rs10935184 | 7.71E−25 | primary | 0.93 | PCCB | –/–/– |
| 4 | 170357552 | 170646052 | rs10520163 | 1.02E−08 | rs7438 | 1.02E−09 | primary | 0.97 | CLCN3 | –/–/– |
| 5 | 45291475 | 46404116 | rs1501357 | 1.24E−08 | rs9292918 | 4.45E−05 | primary | 0.94 | BRCAT54, RP11-53O19.1 | –/–/adult |
| 6 | 83779798 | 84407274 | rs3798869 | 8.57E−10 | rs2016358 | 1.19E−09 | primary | 0.90 | SNAP91 | cerebellar hemisphere/–/– |
| 6 | 108875527 | 109019327 | rs9398171 | 3.37E−08 | rs111727905 | 3.84E−06 | primary | 0.97 | ZNF259P1 | –/–/early mid-prenatal |
| 7 | 21485312 | 21545712 | rs73060317 | 6.60E−07 | rs141984481 | 3.59E−05 | primary | 0.92 | SP4 | –/–/early prenatal |
| 8 | 8088038 | 10056127 | rs2945232 | 2.03E−08 | rs2980441 | 7.68E−69 | primary | 0.82 | FAM86B3P | –/–/adolescent |
| 8 | 26181524 | 26279124 | rs1042992 | 2.27E−07 | rs17055186 | 3.06E−24 | conditional | 0.91 | SDAD1P1 | testis/–/adult |
| 8 | 38020424 | 38310924 | rs57709857 | 2.32E−07 | rs201999919 | 1.70E−07 | primary | 0.88 | WHSC1L1 | –/–/early prenatal |
| 8 | 144822546 | 144871746 | rs11784536 | 1.83E−07 | rs12541792 | 6.45E−35 | primary | 0.90 | FAM83H | esophagus - mucosa/oligodendrocytes/adolescent |
| 9 | 26839508 | 26909408 | rs10967586 | 4.75E−07 | rs12345197 | 3.90E−06 | primary | 0.80 | IFT74 | –/–/– |
| 11 | 46340213 | 46751213 | rs7951870 | 1.97E−11 | rs16938506 | 5.08E−05 | primary | 0.88 | MDK | –/–/early mid-prenatal |
| 12 | 57428314 | 57497814 | rs324017 | 2.13E−07 | rs4559 | 2.02E−05 | conditional | 0.91 | STAT6 | –/microglia/adolescent |
| 14 | 35421614 | 35847614 | rs77477310 | 1.52E−07 | rs1028449 | 8.09E−04 | primary | 0.84 | RP11-85K15.2 | –/–/– |
| 15 | 78803032 | 78926732 | rs8042374 | 1.87E−12 | rs7171869 | 1.44E−04 | conditional | 0.94 | IREB2 | –/–/early prenatal |
| 15 | 84661161 | 85153461 | rs950169 | 7.62E−11 | rs35677834 | 1.54E−34 | primary | 0.80 | LOC101929479, RP11-561C5.3 | ovary/–/early mid-prenatal |
| 15 | 91416560 | 91436560 | rs4702 | 2.30E−12 | rs4702 | 4.49E−13 | primary | 1.00 | FURIN | –/endothelial cells/adolescent |
| 16 | 4447751 | 4596451 | rs6500602 | 2.79E−07 | rs3747580 | 4.75E−16 | primary | 0.90 | CORO7 | –/–/– |
| rs8046295 | 2.68E−11 | primary | 0.89 | NMRAL1 | –/–/– | |||||
| 16 | 29924377 | 30144877 | rs12691307 | 1.30E−10 | rs4788203 | 1.95E−05 | primary | 0.88 | TMEM219 | –/–/– |
| rs3935873 | 7.46E−14 | primary | 0.87 | INO80E | –/neurons/– | |||||
| rs4787491 | 1.60E−04 | conditional | 0.82 | DOC2A | brain - cortex/neurons/adolescent | |||||
| 16 | 58669293 | 58691393 | rs12325245 | 1.15E−08 | rs11647976 | 4.83E−04 | primary | 0.94 | CNOT1 | –/–/– |
| 17 | 17722402 | 18030202 | rs8082590 | 6.84E−09 | rs4072739 | 4.74E−13 | primary | 0.92 | DRG2 | –/–/– |
| 19 | 11839736 | 11859736 | rs72986630 | 4.64E−08 | rs72986630 | 2.20E−14 | primary | 1.00 | ZNF823 | –/endothelial cells/early prenatal |
| 19 | 19374022 | 19658022 | rs2905426 | 6.92E−09 | rs2965199 | 9.22E−36 | primary | 0.87 | GATAD2A | –/–/– |
| 19 | 50067499 | 50135399 | rs56873913 | 2.19E−07 | rs5023763 | 9.32E−05 | primary | 0.93 | SNRNP70 | –/–/– |
| 22 | 41408556 | 42689414 | rs9607782 | 6.76E−12 | rs200447424 | 1.87E−04 | primary | 0.96 | RANGAP1 | –/–/– |