Table 1.
Overview of 58 previously reported loci with genome-wide significance for Coronary Artery Disease1
| reported gene |
first reported lead SNP |
chr | location* | 1000G p-value |
new lead SNP | updated location* |
updated 1000G p- value |
reported phenotypes** |
|---|---|---|---|---|---|---|---|---|
| PCSK9 | rs11206510 | 1 | intergenic | 2.34E-08 | MI,188 LDL-C2 | |||
| PPAP2B | rs17114036 | 1 | PPAP2B | 2.22E-13 | rs9970807 | PPAP2B | 5.00E-14 | MI163 |
| SORT1 | rs646776 | 1 | CELSR2 | 9.01E-19 | rs7528419 | CELSR2, PSRC | 1.97E-23 | MI,188 LDL-C,124 Phospholipase A2189 |
| IL6R | rs4845625 | 1 | IL6R | 3.93E-08 | rs6689306 | IL6R | 2.60E-09 | MI22 |
| MIA3 | rs17464857 | 1 | TAF1A | 4.18E-05 | rs67180937 | MIA3 | 1.01E-12 | MI22,190 |
| rs17465637 | 1 | MIA3 | 3.52E-12 | |||||
| AK097927 | rs16986953 | 2 | intergenic | 1.45E-08 | MI22 | |||
| APOB | rs515135 | 2 | intergenic | 3.09E-08 | chr2:21378433:D | intergenic | 2.89E-08 | MI,22 LDL-C,124 |
| ABCG5-ABCG8 | rs6544713 | 2 | ABCG8 | 8.88E-07 | chr2:44074126:D | ABCG8 | 2.60E-08 | MI,22 LDL-C124 |
| VAMP5-VAMP8-GGCX | rs1561198 | 2 | VAMP5, VAMP8 | 6.37E-10 | rs7568458 | GGCX, VAMP8 | 3.62E-10 | MI22 |
| ZEB2-ACO74093.1 | rs2252641 | 2 | TEX41 | 5.16E-04 | rs17678683 | LINC01412, ZEB2 | 3.00E-09 | MI22 |
| WDR12 | rs6725887 | 2 | WDR12 | 9.51E-18 | chr2:203828796:I | ALS2CR8 | 2.15E-18 | MI188 |
| MRAS | rs9818870 | 3 | MRAS | 2.21E-06 | chr3:138099161:I | MRAS | 2.89E-09 | MI191 |
| REST-NOA1 | rs17087335 | 4 | NOA1 | 4.6E-08 | MI1 | |||
| EDNRA | rs1878406 | 4 | intergenic | 1.24E-06 | rs4593108 | intergenic | 8.82E-10 | plaque,192 stroke10 |
| GUCY1A3 | rs7692387 | 4 | GUCY1A3 | 7.35E-09 | rs72689147 | GUCY1A3 | 6.07E-09 | MI,22 |
| SLC22A4-SLC22A5 | rs273909 | 5 | SLC22A4, LOC553103 | 1.24E-04 | MI22 | |||
| ADTRP-C6orf105*** | rs6903956 | 6 | ADTRP | 0.96 | MI193 | |||
| PHACTR1 | rs12526453 | 6 | PHACTR1 | 2.14E-20 | rs9349379 | PHACTR1 | 1.81E-42 | MI,188 calcification,112 artery dissection,194 migraine195 |
| ANKS1A | rs17609940 | 6 | ANKS1A | 0.03 | MI163 | |||
| KCNK5 | rs10947789 | 6 | KCNK5 | 1.63E-06 | rs56336142 | intergenic | 1.85E-08 | MI22 |
| TCF21 | rs12190287 | 6 | TCF21,TARID | 1.07E-03 | rs12202017 | TARID, LINC01312 | 1.98E-11 | MI163 |
| SLC22A3-LPAL2-LPA | rs2048327 | 6 | SLC22A3 | 2.46E-09 | rs55730499 | LPA | 5.39E-39 | MI196,163 |
| rs3798220 | 6 | LPA | 4.66E-09 | |||||
| PLG | rs4252120 | 6 | PLG | 3.32E-03 | rs4252185 | PLG | 1.64E-32 | MI22 |
| HDAC9 | rs2023938 | 7 | HDAC9 | 1.36E-04 | rs2107595 | intergenic | 8.05E-11 | stroke,197 MI22 |
| 7q22 | rs10953541 | 7 | BCAP29 | 1.02E-05 | MI164 | |||
| ZC3HC1 | rs11556924 | 7 | ZC3HC1 | 5.34E-11 | MI163 | |||
| NOS3 | rs3918226 | 7 | NOS3 | 1.7E-09 | MI1 | |||
| LPL | rs264 | 7 | LPL | 1.06E-05 | MI22 | |||
| TRIB1 | rs2954029 | 8 | RP11-136O12.2 | 2.61E-06 | Triglycerides,124 LDL-C,4 HDL-C,4 total cholesterol,4 MI22 | |||
| 9p21 | rs3217992 | 8 | CDKN2B, CDKN2B-AS1 | 1.03E-42 | rs2891168 | CDKN2B-AS1 | 2.29E-98 | MI22,195,188 |
| rs4977574 | 9 | CDKN2B-AS1 | 6.35E-98 | |||||
| ABO | rs579459 | 9 | ABO | 1.14E-10 | rs2519093 | ABO | 1.19E-11 | MI,163 venous thromboembolism198 |
| KIAA1462 | rs2505083 | 9 | KIAA1462 | 1.57E-10 | rs2487928 | KIAA1462 | 4.41E-11 | MI164 |
| CXCL12 | rs2047009 | 9 | intergenic | 2.75E-11 | rs1870634 | intergenic | 5.55E-15 | MI22,190 |
| rs501120 | 10 | RP11-20J15.2 | 1.39E-11 | |||||
| LIPA | rs11203042 | 10 | LIPA | 1.22E-04 | rs1412444 | LIPA | 5.15E-12 | MI,22,164 |
| rs1412444 | 10 | LIPA | 5.15E-12 | |||||
| CYP17A1-CNNM2-NT5C2 | rs12413409 | 10 | CNNM2 | 1.07E-07 | rs11191416 | PFN1P11 | 4.65E-09 | MI,163 intracranial aneurysm199 |
| SWAP70 | rs10840293 | 10 | SWAP70 | 1.3E-08 | MI1 | |||
| PDGFD | rs974819 | 10 | RP11-563P16.1 | 2.44E-10 | rs2128739 | RP11-563P16.1 | 7.05E-11 | MI164 |
| ZNF259-APOA5-APOA1 (ZPR1) | rs964184 | 11 | ZNF259 | 5.60E-05 | MI,163 Triglycerides,124 HDL-C,124 LDL-C4 | |||
| ATP2B1 | rs7136259 | 11 | ATP2B1 | 2.45E-05 | rs2681472 | ATP2B1 | 6.17E-11 | MI, blood pressure200 |
| SH2B3 | rs3184504 | 11 | SH2B3 | 1.03E-09 | MI,163 blood pressure200 | |||
| KSR2 | rs11830157 | 12 | KSR2 | 2.12E-09 | MI1 | |||
| FLT1 | rs9319428 | 12 | FLT1 | 7.13E-05 | MI22 | |||
| COL4A1/A2 | rs4773144 | 12 | COL4A1, COL4A2 | 3.87E-07 | rs11838776 | COL4A2 | 1.83E-10 | MI163,22 |
| rs9515203 | 13 | COL4A2 | 9.33E-10 | |||||
| HHIPL1 | rs2895811 | 13 | HHIPL1 | 1.86E-05 | rs10139550 | HHIPL1 | 1.38E-08 | MI163 |
| SMAD3 | rs56062135 | 13 | SMAD3 | 4.5E-09 | MI1 | |||
| ADAMTS7-MORF4L1 | rs7173743 | 14 | MORF4L1 | 5.55E-16 | rs4468572 | MORF4L1 | 4.44E-16 | MI22 |
| MFGE8-ABHD2 | rs8042271 | 15 | intergenic | 3.7E-08 | MI1 | |||
| FURIN-FES | rs17514846 | 15 | FURIN | 3.10E-07 | MI22 | |||
| SMG6-SRR | rs216172 | 15 | SMG6 | 5.07E-07 | MI163 | |||
| RASD1, SMCR3, PEMT | rs12936587 | 15 | intergenic | 8.24E-04 | MI163 | |||
| UBE2Z, GIP, ATP5G1, SNF8 | rs46522 | 15 | UBE2Z | 1.84E-05 | MI163 | |||
| BCAS3 | rs7212798 | 15 | BCAS3 | 1.9E-08 | MI1 | |||
| PMAIP1-MC4R | rs663129 | 17 | intergenic | 3.2E-08 | MI1 | |||
| LDLR | rs1122608 | 17 | SMARCA4 | 2.73E-11 | rs56289821 | intergenic | 4.44E-15 | MI188 |
| ZNF507-LOC400684 | rs12976411 | 17 | LOC400684, ZNF507 | 1.18E-14 | MI1 | |||
| APOE-APOC1 | rs2075650 | 17 | TOMM40, PVRL2 | 1.61E-06 | rs4420638 | APOC1 | 7.07E-11 | Total Cholesterol,201 LDL-C,202,203 Phospholipase A2,204 plaque,192 Triglycerides205 |
| rs445925 | 18 | APOC1, APOE | 4.23E-06 | |||||
| SLC5A3-MRPS6-KCNE2 | rs9982601 | 19 | intergenic | 1.33E-13 | rs28451064 | AP000320.7 | 1.33E-15 | MI188 |
| POM121L9P-ADORA2A | rs180803 | 19 | POM121L9P | 1.6E-10 | MI1 | |||
*
gene body +-5kb (hg19, UCSC genes, Ensembl genes, Refseq genes)
**
CAD lead SNPs with genome-wide significance in published GWAS studies for CAD relevant phenotypes
***
only significant in East Asians
