Table 4.
Significant SNP associations in the 9p21 in meta-analysis across ethnicities. SNPs were selected 100 kb upstream/downstream from SNPs rs1333049, rs4977574, and rs16905644. A total of 3282 SNPs were identified (598, 631, 1256 and 797 SNPs in EUA, CHN, AFA and HIS, respectively). Chr=Chromosone, Gene=Closest gene, P. Beta=published beta (ethnicity), MAF=Minor allele frequency, H. P-value=Heterogeneity p-value. I2=Heterogeneity metric. P-values meeting Bonferroni correction are highlighted (the average number of SNPs per ethnicity was used for to derive the Bonferroni corrected p-value 0.05/820=6.1E−5).
| SNP | Position | Beta | P-value | EUA | CHN | AFA | HIS | I2 | H. P-value |
|---|---|---|---|---|---|---|---|---|---|
| CAC-D | |||||||||
| rs10757269 | 22,072,264 | 0.190 | 2.38E−05 | + | + | − | + | 87.4 | 2.68E−05 |
| rs9632884 | 22,072,301 | −0.194 | 2.25E−05 | − | − | + | − | 82.3 | 7.10E−04 |
| rs9632885 | 22,072,638 | −0.186 | 7.02E−06 | − | − | + | − | 77.9 | 3.50E−03 |
| rs10757270 | 22,072,719 | 0.168 | 2.93E−05 | + | + | − | + | 74.9 | 7.59E−03 |
| rs1831733 | 22,076,071 | 0.182 | 3.05E−05 | + | + | − | + | 83.1 | 4.95E−04 |
| rs10757271 | 22,076,795 | 0.225 | 1.46E−06 | + | + | − | + | 85.1 | 1.62E−04 |
| rs10811652 | 22,077,085 | 0.232 | 4.10E−07 | + | + | − | + | 83.1 | 4.85E−04 |
| rs10116277 | 22,081,397 | −0.247 | 4.71E−08 | − | − | + | − | 76.5 | 5.20E−03 |
| rs6475606 | 22,081,850 | −0.247 | 4.13E−08 | − | − | + | − | 77.6 | 3.90E−03 |
| rs1333040 | 22,083,404 | −0.176 | 1.70E−05 | − | − | + | − | 83.2 | 4.75E−04 |
| rs1537370 | 22,084,310 | −0.226 | 3.92E−08 | − | − | − | − | 78.3 | 3.11E−03 |
| rs1970112 | 22,085,598 | 0.220 | 4.09E−08 | + | + | + | + | 75.6 | 6.46E−03 |
| rs10738606 | 22,088,090 | 0.187 | 8.17E−06 | + | + | − | + | 78.6 | 2.85E−03 |
| rs10738607 | 22,088,094 | 0.187 | 8.17E−06 | + | + | − | + | 78.6 | 2.86E−03 |
| rs10757272 | 22,088,260 | −0.190 | 6.03E−06 | − | − | + | − | 78.5 | 3.00E−03 |
| rs9644860 | 22,090,603 | −0.176 | 3.11E−05 | − | − | + | − | 87.5 | 2.42E−05 |
| rs9644862 | 22,090,936 | 0.261 | 5.58E−09 | + | + | + | + | 70.3 | 1.77E−02 |
| rs141014318 | 22,092,924 | 0.215 | 6.22E−07 | + | + | − | + | 72.9 | 1.13E−02 |
| rs4977757 | 22,094,330 | 0.220 | 5.82E−07 | + | + | + | + | 69.6 | 1.97E−02 |
| rs10738608 | 22,094,796 | 0.255 | 7.84E−09 | + | + | + | + | 64.9 | 3.62E−02 |
| rs10757274 | 22,096,055 | 0.192 | 4.26E−06 | + | + | + | + | 77.5 | 3.94E−03 |
| rs4977574 | 22,098,574 | 0.212 | 5.33E−07 | + | + | − | + | 71.2 | 1.52E−02 |
| rs2891168 | 22,098,619 | 0.211 | 4.80E−07 | + | + | + | + | 69.3 | 2.06E−02 |
| rs1537371 | 22,099,568 | −0.253 | 2.27E−08 | − | − | + | − | 68.6 | 2.28E−02 |
| rs1556516 | 22,100,176 | −0.252 | 2.43E−08 | − | − | + | − | 68.8 | 2.22E−02 |
| rs7859727 | 22,102,165 | −0.221 | 1.28E−07 | − | − | − | − | 71.5 | 1.46E−02 |
| rs1537372 | 22,103,183 | −0.208 | 3.87E−06 | − | − | + | − | 65.7 | 3.29E−02 |
| rs1537373 | 22,103,341 | 0.252 | 2.39E−08 | + | + | − | + | 68.8 | 2.21E−02 |
| rs1333042 | 22,103,813 | 0.258 | 1.11E−08 | + | + | − | + | 68.1 | 2.42E−02 |
| rs7859362 | 22,105,927 | 0.250 | 4.43E−08 | + | + | − | + | 65.8 | 3.24E−02 |
| rs10757275 | 22,106,225 | −0.197 | 3.69E−06 | − | − | + | − | 76.9 | 4.70E−03 |
| rs6475609 | 22,106,271 | 0.250 | 4.01E−08 | + | + | − | + | 65.5 | 3.37E−02 |
| rs1333043 | 22,106,731 | −0.250 | 4.10E−08 | − | − | + | − | 65.5 | 3.37E−02 |
| rs1412834 | 22,110,131 | 0.249 | 5.00E−08 | + | + | − | + | 65.1 | 3.50E−02 |
| rs7341786 | 22,112,241 | 0.250 | 5.23E−08 | + | + | − | + | 64.8 | 3.65E−02 |
| rs7341791 | 22,112,427 | 0.250 | 5.25E−08 | + | + | − | + | 64.8 | 3.63E−02 |
| rs10511701 | 22,112,599 | 0.228 | 8.75E−08 | + | + | + | + | 37.0 | 1.90E−01 |
| rs10733376 | 22,114,469 | −0.251 | 5.36E−08 | − | − | + | − | 67.4 | 2.67E−02 |
| rs10738609 | 22,114,495 | 0.201 | 2.13E−06 | + | + | − | + | 69.8 | 1.92E−02 |
| rs1004638 | 22,115,589 | 0.251 | 4.21E−08 | + | + | − | + | 65.7 | 3.28E−02 |
| rs2383207 | 22,115,959 | 0.252 | 3.72E−08 | + | + | − | + | 65.9 | 3.19E−02 |
| rs1537374 | 22,116,046 | 0.252 | 3.77E−08 | + | + | − | + | 65.8 | 3.23E−02 |
| rs1537375 | 22,116,071 | 0.240 | 8.42E−09 | + | + | + | + | 26.9 | 2.51E−01 |
| rs10738610 | 22,123,766 | 0.207 | 9.77E−07 | + | + | − | + | 69.3 | 2.07E−02 |
| rs1333046 | 22,124,123 | −0.179 | 1.14E−05 | − | − | + | − | 79.4 | 2.25E−03 |
| rs7857118 | 22,124,140 | 0.240 | 1.53E−07 | + | + | − | + | 74.8 | 7.71E−03 |
| rs10757277 | 22,124,450 | 0.216 | 3.84E−07 | + | + | + | + | 71.1 | 1.55E−02 |
| rs10757278 | 22,124,477 | 0.216 | 3.84E−07 | + | + | + | + | 71.1 | 1.55E−02 |
| rs1333047 | 22,124,504 | 0.264 | 1.12E−08 | + | + | − | + | 67.1 | 2.77E−02 |
| rs10757279 | 22,124,630 | 0.220 | 2.55E−07 | + | + | + | + | 71.8 | 1.38E−02 |
| rs4977575 | 22,124,744 | 0.265 | 9.46E−09 | + | + | − | + | 67.4 | 2.68E−02 |
| rs1333049 | 22,125,503 | −0.189 | 3.83E−06 | − | − | + | − | 81.2 | 1.17E−03 |
| CAC-C | |||||||||
| rs3218020 | 21,997,872 | −0.173 | 1.26E−05 | − | − | + | − | 82.4 | 6.77E−04 |
| rs1063192 | 22,003,367 | −0.185 | 2.47E−05 | − | − | + | − | 67.1 | 2.78E−02 |
| rs2069418 | 22,009,698 | −0.197 | 9.38E−06 | − | − | − | − | 66.6 | 2.94E−02 |
| rs10811641 | 22,014,137 | 0.160 | 4.08E−05 | + | + | − | + | 81.4 | 1.08E−03 |
| rs523096 | 22,019,129 | −0.185 | 2.87E−05 | − | − | + | − | 67.0 | 2.82E−02 |
| rs518394 | 22,019,673 | 0.182 | 3.76E−05 | + | + | − | + | 65.7 | 3.29E−02 |
| rs10738604 | 22,025,493 | −0.185 | 8.13E−06 | − | − | + | − | 81.6 | 9.87E−04 |
| rs615552 | 22,026,077 | −0.181 | 4.62E−05 | − | − | − | − | 61.2 | 5.17E−02 |
| rs613312 | 22,026,594 | 0.185 | 3.43E−05 | + | + | − | + | 72.9 | 1.14E−02 |
| rs543830 | 22,026,639 | −0.185 | 3.44E−05 | − | − | + | − | 72.9 | 1.14E−02 |
| rs599452 | 22,027,402 | 0.185 | 3.47E−05 | + | + | − | + | 72.8 | 1.15E−02 |
| rs62560774 | 22,028,406 | 0.196 | 5.60E−05 | + | + | − | + | 68.5 | 2.30E−02 |
| rs679038 | 22,029,080 | 0.183 | 4.12E−05 | + | + | − | + | 74.3 | 8.53E−03 |
| rs564398 | 22,029,547 | −0.182 | 4.53E−05 | − | − | + | − | 75.4 | 6.79E−03 |
| rs7865618 | 22,031,005 | −0.205 | 3.88E−06 | − | − | + | − | 74.2 | 8.81E−03 |
| rs634537 | 22,032,152 | −0.180 | 4.85E−05 | − | − | + | − | 76.9 | 4.61E−03 |
| rs2157719 | 22,033,366 | −0.205 | 4.30E−06 | − | − | + | − | 73.4 | 1.04E−02 |
| rs1008878 | 22,036,112 | −0.201 | 5.03E−06 | − | − | + | − | 75.8 | 6.10E−03 |
| rs1556515 | 22,036,367 | −0.201 | 5.24E−06 | − | − | + | − | 75.8 | 6.15E−03 |
| rs1333037 | 22,040,765 | −0.200 | 7.52E−06 | − | − | + | − | 73.8 | 9.52E−03 |
| rs1412829 | 22,043,926 | −0.188 | 2.69E−05 | − | − | + | − | 75.0 | 7.46E−03 |
| rs1360589 | 22,045,317 | −0.201 | 7.78E−06 | − | − | + | − | 75.2 | 7.04E−03 |
| rs7028268 | 22,048,414 | −0.169 | 2.40E−05 | − | + | + | − | 85.2 | 1.50E−04 |
| rs944800 | 22,050,898 | 0.218 | 7.26E−06 | + | + | − | + | 69.5 | 2.00E−02 |
| rs944801 | 22,051,670 | −0.200 | 8.51E−06 | − | − | + | − | 75.3 | 6.88E−03 |
| rs6475604 | 22,052,734 | 0.199 | 8.88E−06 | + | + | − | + | 75.9 | 6.04E−03 |
| rs7030641 | 22,054,040 | −0.199 | 9.32E−06 | − | − | + | − | 75.7 | 6.28E−03 |
| rs7039467 | 22,056,213 | 0.184 | 4.88E−05 | + | + | + | + | 64.8 | 3.62E−02 |
| rs7853090 | 22,056,295 | 0.214 | 2.92E−06 | + | + | − | + | 82.1 | 7.99E−04 |
| rs7866783 | 22,056,359 | 0.190 | 2.22E−05 | + | + | − | + | 78.1 | 3.33E−03 |
| rs10757268 | 22,059,905 | 0.206 | 3.17E−05 | + | + | − | + | 73.4 | 1.04E−02 |
| rs2095144 | 22,060,136 | 0.206 | 3.16E−05 | + | + | − | + | 73.3 | 1.06E−02 |
| rs2383205 | 22,060,935 | 0.184 | 5.07E−05 | + | + | − | + | 77.2 | 4.36E−03 |
| rs1537378 | 22,061,614 | 0.184 | 5.01E−05 | + | + | − | + | 76.8 | 4.78E−03 |
| rs8181050 | 22,064,391 | −0.183 | 5.23E−05 | − | − | + | − | 75.9 | 6.05E−03 |
| rs10811647 | 22,065,002 | 0.161 | 3.76E−05 | + | + | − | + | 87.9 | 1.74E−05 |
| rs10811650 | 22,067,593 | 0.169 | 1.03E−05 | + | + | − | + | 86.3 | 7.02E−05 |
| rs10757269 | 22,072,264 | 0.248 | 4.59E−10 | + | + | − | + | 86.9 | 4.22E−05 |
| rs9632884 | 22,072,301 | −0.244 | 1.81E−09 | − | − | + | − | 80.7 | 1.38E−03 |
| rs9632885 | 22,072,638 | −0.228 | 7.82E−10 | − | − | + | − | 81.8 | 9.04E−04 |
| rs10757270 | 22,072,719 | 0.206 | 1.15E−08 | + | + | − | + | 78.9 | 2.66E−03 |
| rs1831733 | 22,076,071 | 0.236 | 1.31E−09 | + | + | − | + | 84.5 | 2.32E−04 |
| rs10757271 | 22,076,795 | 0.280 | 9.53E−12 | + | + | − | + | 85.7 | 1.05E−04 |
| rs10811652 | 22,077,085 | 0.282 | 2.78E−12 | + | + | − | + | 83.0 | 5.10E−04 |
| rs1412832 | 22,077,543 | −0.204 | 1.99E−05 | − | − | + | − | 69.5 | 2.01E−02 |
| rs10116277 | 22,081,397 | −0.290 | 3.25E−13 | − | − | + | − | 76.5 | 5.16E−03 |
| rs6475606 | 22,081,850 | −0.291 | 2.29E−13 | − | − | + | − | 77.6 | 3.81E−03 |
| rs1333040 | 22,083,404 | −0.229 | 4.35E−10 | − | − | − | − | 83.6 | 3.87E−04 |
| rs1537370 | 22,084,310 | −0.259 | 1.86E−12 | − | − | − | − | 81.6 | 9.79E−04 |
| rs1970112 | 22,085,598 | 0.264 | 1.81E−13 | + | + | + | + | 75.0 | 7.40E−03 |
| rs66478960 | 22,086,826 | 0.225 | 6.00E−05 | + | ? | + | + | 0.0 | 4.33E−01 |
| rs7857345 | 22,087,473 | 0.229 | 3.16E−06 | + | + | + | + | 38.1 | 1.83E−01 |
| rs10738606 | 22,088,090 | 0.233 | 4.84E−10 | + | + | − | + | 80.4 | 1.60E−03 |
| rs10738607 | 22,088,094 | 0.233 | 4.84E−10 | + | + | − | + | 80.4 | 1.60E−03 |
| rs10757272 | 22,088,260 | −0.233 | 5.18E−10 | − | − | + | − | 80.0 | 1.82E−03 |
| rs10757273 | 22,090,301 | −0.201 | 9.63E−08 | − | − | + | − | 88.7 | 7.52E−06 |
| rs9644859 | 22,090,521 | −0.217 | 2.68E−08 | − | − | + | − | 90.5 | 6.80E−07 |
| rs9644860 | 22,090,603 | −0.221 | 5.39E−09 | − | − | + | − | 89.6 | 2.41E−06 |
| rs9644862 | 22,090,936 | 0.304 | 3.19E−14 | + | + | + | + | 70.8 | 1.65E−02 |
| rs10811653 | 22,091,069 | −0.205 | 7.62E−08 | − | − | + | − | 90.6 | 5.20E−07 |
| rs7866503 | 22,091,924 | −0.206 | 1.08E−07 | − | − | + | − | 87.9 | 1.68E−05 |
| rs2210538 | 22,092,257 | −0.211 | 1.87E−08 | − | − | + | − | 89.6 | 2.40E−06 |
| rs141014318 | 22,092,924 | 0.249 | 8.90E−11 | + | + | + | + | 73.4 | 1.04E−02 |
| rs4977757 | 22,094,330 | 0.251 | 1.44E−10 | + | + | − | + | 81.7 | 9.47E−04 |
| rs10738608 | 22,094,796 | 0.289 | 1.76E−13 | + | + | + | + | 70.8 | 1.65E−02 |
| rs4977574 | 22,098,574 | 0.252 | 2.55E−11 | + | + | + | + | 73.3 | 1.05E−02 |
| rs2891168 | 22,098,619 | 0.244 | 7.19E−11 | + | + | + | + | 74.8 | 7.69E−03 |
| rs1537371 | 22,099,568 | −0.284 | 1.01E−12 | − | − | − | − | 73.1 | 1.09E−02 |
| rs1556516 | 22,100,176 | −0.283 | 1.17E−12 | − | − | − | − | 73.5 | 1.01E−02 |
| rs7859727 | 22,102,165 | −0.245 | 4.40E−11 | − | − | − | − | 77.9 | 3.55E−03 |
| rs1537372 | 22,103,183 | −0.248 | 6.93E−10 | − | − | + | − | 65.5 | 3.37E−02 |
| rs1537373 | 22,103,341 | 0.283 | 1.22E−12 | + | + | + | + | 72.9 | 1.14E−02 |
| rs1333042 | 22,103,813 | 0.283 | 1.10E−12 | + | + | + | + | 72.7 | 1.18E−02 |
| rs7859362 | 22,105,927 | 0.276 | 6.92E−12 | + | + | + | + | 70.5 | 1.72E−02 |
| rs10757275 | 22,106,225 | −0.235 | 5.68E−10 | − | − | + | − | 78.4 | 3.08E−03 |
| rs6475609 | 22,106,271 | 0.277 | 5.91E−12 | + | + | + | + | 69.9 | 1.88E−02 |
| rs1333043 | 22,106,731 | −0.277 | 6.27E−12 | − | − | − | − | 69.9 | 1.89E−02 |
| rs1412834 | 22,110,131 | 0.274 | 1.09E−11 | + | + | + | + | 69.4 | 2.04E−02 |
| rs7341786 | 22,112,241 | 0.276 | 1.03E−11 | + | + | + | + | 68.2 | 2.39E−02 |
| rs7341791 | 22,112,427 | 0.276 | 9.76E−12 | + | + | + | + | 68.4 | 2.33E−02 |
| rs10511701 | 22,112,599 | 0.255 | 2.01E−11 | + | + | + | + | 56.9 | 7.34E−02 |
| rs10733376 | 22,114,469 | −0.279 | 7.26E−12 | − | − | − | − | 69.7 | 1.93E−02 |
| rs10738609 | 22,114,495 | 0.235 | 5.10E−10 | + | + | + | + | 72.2 | 1.30E−02 |
| rs2383206 | 22,115,026 | 0.185 | 3.13E−07 | + | + | − | + | 89.4 | 2.97E−06 |
| rs944797 | 22,115,286 | 0.186 | 2.69E−07 | + | + | − | + | 89.5 | 2.92E−06 |
| rs1004638 | 22,115,589 | 0.275 | 9.00E−12 | + | + | + | + | 69.8 | 1.91E−02 |
| rs2383207 | 22,115,959 | 0.275 | 8.92E−12 | + | + | + | + | 69.8 | 1.92E−02 |
| rs1537374 | 22,116,046 | 0.276 | 8.19E−12 | + | + | + | + | 69.8 | 1.91E−02 |
| rs1537375 | 22,116,071 | 0.266 | 8.73E−13 | + | + | + | + | 43.6 | 1.50E−01 |
| rs1537376 | 22,116,220 | 0.185 | 3.29E−07 | + | + | − | + | 89.4 | 2.96E−06 |
| rs1333045 | 22,119,195 | 0.182 | 2.89E−07 | + | + | − | + | 86.4 | 6.24E−05 |
| rs10217586 | 22,121,349 | 0.172 | 1.21E−06 | + | + | − | + | 84.9 | 1.77E−04 |
| rs10738610 | 22,123,766 | 0.235 | 4.94E−10 | + | + | + | + | 72.4 | 1.25E−02 |
| rs1333046 | 22,124,123 | −0.210 | 9.85E−09 | − | − | + | − | 82.0 | 8.27E−04 |
| rs7857118 | 22,124,140 | 0.270 | 2.30E−11 | + | + | − | + | 77.5 | 4.02E−03 |
| rs10757277 | 22,124,450 | 0.248 | 6.77E−11 | + | + | + | + | 75.4 | 6.68E−03 |
| rs10811656 | 22,124,472 | −0.198 | 6.29E−08 | − | − | + | − | 88.6 | 8.51E−06 |
| rs10757278 | 22,124,477 | 0.248 | 6.78E−11 | + | + | + | + | 75.4 | 6.67E−03 |
| rs10757277 | 22,124,450 | 0.248 | 6.77E−11 | + | + | + | + | 75.4 | 6.68E−03 |
| rs10811656 | 22,124,472 | −0.198 | 6.29E−08 | − | − | + | − | 88.6 | 8.51E−06 |
| rs10757278 | 22,124,477 | 0.248 | 6.78E−11 | + | + | + | + | 75.4 | 6.67E−03 |
| rs1333047 | 22,124,504 | 0.296 | 3.23E−13 | + | + | + | + | 70.4 | 1.76E−02 |
| rs10757279 | 22,124,630 | 0.250 | 4.65E−11 | + | + | + | + | 75.6 | 6.46E−03 |
| rs4977575 | 22,124,744 | 0.297 | 2.65E−13 | + | + | + | + | 70.5 | 1.72E−02 |
| rs1333048 | 22,125,347 | 0.186 | 2.32E−07 | + | + | − | + | 85.0 | 1.66E−04 |
| rs1333049 | 22,125,503 | −0.218 | 2.42E−09 | − | − | + | − | 84.6 | 2.18E−04 |
| rs1333050 | 22,125,913 | −0.199 | 8.65E−06 | − | − | + | − | 69.3 | 2.05E−02 |