Table V.
The 45 single nucleotide polymorphisms (SNPs) significantly (P<1.21×10−6) associated with true aortic aneurysm in an exome-wide association study (EWAS).
| Gene | dbSNP | Nucleotide (amino acid) substitutiona | Chromosome: position | MAF (%) | P-value (allele) | Allele OR |
|---|---|---|---|---|---|---|
| KIAA1217 | rs10828663 | G/A (A807T) | 10:24524525 | 10.4 | 6.87×10−94 | 1.14 |
| NRAP | rs79461687 | G/T (H1246Q) | 10:113606247 | 1.3 | 1.58×10−90 | 1.67 |
| OR5W2 | rs75634103 | G/A | 11:55914523 | 10.4 | 4.84×10−81 | 1.17 |
| ATAD5 | rs11657270 | T/C (Y1419H) | 17:30887369 | 18.1 | 9.29×10−70 | 0.98 |
| rs9683944 | A/G | 4:137512008 | 10.8 | 1.65×10−56 | 0.83 | |
| TMPRSS3 | rs928302 | C/T (V53I) | 21:42389975 | 27.6 | 1.34×10−52 | 0.99 |
| ZNF804B | rs6963781 | A/G (M1105V) | 7:89336295 | 5.1 | 6.67×10−47 | 1.01 |
| ZNF474 | rs201335566 | G/A (R253Q) | 5:122152748 | 0.5 | 5.79×10−42 | 0.84 |
| LOC100506679 | rs5751416 | G/A | 22:43036820 | 26.3 | 2.46×10−26 | 0.71 |
| ARHGEF28 | rs536568 | A/C | 5:73935841 | 45.8 | 3.10×10−23 | 1.03 |
| RALGAPA2 | rs142962992 | G/C (E1676D) | 20:20505435 | 0.9 | 8.85×10−23 | 0.72 |
| LYSMD1 | rs79024247 | G/T (Q150K) | 1:151160974 | 5.2 | 7.43×10−21 | 0.88 |
| CNGA1 | rs192912733 | C/T (R493Q) | 4:47937223 | 0.7 | 8.13×10−21 | 1.17 |
| MOV10L1 | rs760749 | A/C (I454L) | 22:50117257 | 27.8 | 1.23×10−20 | 1.18 |
| HLA-DMB | rs151719 | A/G | 6:32936123 | 25.7 | 1.96×10−19 | 1.17 |
| TUBB1 | rs6070697 | G/A (R307H) | 20:59024347 | 12.1 | 3.20×10−18 | 0.97 |
| rs3135365 | T/G | 6:32421478 | 18.9 | 3.94×10−17 | 0.83 | |
| CCDC33 | rs1484214 | A/C | 15:74288732 | 49.3 | 6.60×10−17 | 1.09 |
| ZNF708 | rs504280 | C/T (R66Q) | 19:21294577 | 7.4 | 3.03×10−15 | 0.98 |
| rs2823962 | G/A | 21:16673913 | 32.8 | 3.36×10−14 | 0.97 | |
| SGCZ | rs1037934 | G/A | 8:14399065 | 9.0 | 3.44×10−13 | 1.22 |
| DUOX1 | rs199549867 | A/T (R569S) | 15:45141997 | 0.2 | 1.58×10−10 | 0.81 |
| CTSC | rs3888798 | T/C (I453V) | 11:88294041 | 16.5 | 3.21×10−10 | 1.06 |
| C10orf128 | rs118189413 | C/G (H67D) | 10:49166908 | 6.3 | 4.04×10−10 | 0.84 |
| OR5V1 | rs9405124 | A/G | 6:29401036 | 19.9 | 4.15×10−10 | 0.98 |
| UBAP2L | rs143080179 | T/C (S641P) | 1:154255163 | 1.3 | 4.20×10−10 | 0.66 |
| CAMSAP1 | rs201291561 | T/C (N1062S) | 9:135821476 | 0.2 | 5.67×10−10 | 1.87 |
| TICRR | rs79501973 | G/A (V1373I) | 15:89624427 | 14.7 | 7.76×10−10 | 1.04 |
| NCAM1 | rs7111410 | C/T | 11:113178565 | 15.9 | 2.63×10−9 | 0.80 |
| IRGQ | rs3817 | C/A | 19:43586043 | 47.7 | 3.30×10−9 | 0.92 |
| SSPO | rs191064068 | G/A (R209H) | 7:149777738 | 1.1 | 2.35×10−8 | 1.67 |
| SLC9A4 | rs1014286 | A/G (S784G) | 2:102532641 | 43.9 | 2.84×10−8 | 1.11 |
| rs2138852 | A/G | 17:29376331 | 2.5 | 2.92×10−8 | 0.77 | |
| SPATC1L | rs113710653 | C/T (E231K) | 21:46161921 | 1.9 | 3.91×10−8 | 7.39 |
| DRD2 | rs12363125 | C/T | 11:113415194 | 6.2 | 4.99×10−8 | 0.87 |
| CCT5 | rs201280643 | C/G (S373C) | 5:10262584 | 0.4 | 7.04×10−8 | 0.99 |
| AXDND1 | rs41267592 | C/T (T627M) | 1:179468524 | 0.3 | 7.85×10−8 | 1.03 |
| rs507856 | C/T | 3:161736158 | 38.3 | 1.10×10−7 | 1.02 | |
| rs962040 | A/G | 8:15454369 | 30.1 | 1.21×10−7 | 0.96 | |
| rs11970286 | C/T | 6:118359211 | 17.3 | 1.60×10−7 | 0.83 | |
| NINL | rs199671123 | C/T (A796T) | 20:25476905 | 0.2 | 2.45×10−7 | 0.85 |
| rs12531488 | C/T | 7:145194993 | 16.0 | 7.91×10−7 | 1.14 | |
| MROH7 | rs143029488 | G/C (A1313P) | 1:54710152 | 0.8 | 1.05×10−6 | 1.34 |
| AFAP1 | rs28406288 | G/C (C403S) | 4:7800500 | 0.1 | 1.10×10−6 | ND |
| GALM | rs6741892 | A/T (N190Y) | 2:38689828 | 20.1 | 1.12×10−6 | 0.93 |
Allele frequencies were analyzed with Fisher's exact test.
a
Major allele/minor allele. MAF, minor allele frequency; OR, odds ratio; ND, not determined.