Table 3 |.
GWAS loci for the descending thoracic aorta
| SNP | CHR | BP | Effect allele | Other allele | EAF | INFO | BETA | P | Nearest gene | Prior |
|---|---|---|---|---|---|---|---|---|---|---|
| rs35584696 | 1 | 89145392 | C | CT | 0.44 | 1.00 | −0.033 | 3.80E-09 | PKN2 | |
| rs527725 | 1 | 201752429 | A | C | 0.60 | 0.97 | 0.036 | 1.20E-11 | NAV1 | |
| rs7255 | 2 | 20878820 | T | C | 0.45 | 1.00 | 0.045 | 4.80E-17 | GDF7 | |
| rs202119031 | 2 | 179744659 | CAG | C | 0.87 | 1.00 | 0.045 | 3.80E-08 | CCDC141 | |
| rs7580831 | 2 | 238219499 | C | A | 0.68 | 1.00 | −0.037 | 5.20E-10 | COL6A3 | |
| rs11707002 | 3 | 8580237 | C | G | 0.55 | 0.99 | 0.031 | 2.40E-08 | LMCD1 | |
| rs5848609 | 3 | 41802815 | G | GTTA | 0.84 | 0.99 | −0.041 | 4.50E-08 | ULK4 | Guo et al. 2016 |
| rs56004178 | 3 | 58101471 | G | A | 0.70 | 0.99 | 0.038 | 3.10E-10 | FLNB | |
| rs2055981 | 3 | 114203969 | T | C | 0.36 | 0.99 | −0.032 | 1.70E-08 | ZBTB20 | |
| rs698099 | 3 | 186987941 | G | A | 0.17 | 1.00 | 0.060 | 2.20E-16 | MASP1 | |
| rs6855532 | 4 | 7908237 | C | T | 0.57 | 1.00 | 0.030 | 2.70E-08 | AFAP1 | |
| rs60991988 | 4 | 54801228 | T | G | 0.89 | 0.99 | −0.047 | 3.70E-08 | FIP1L1 | |
| rs3733336 | 4 | 81207963 | A | G | 0.64 | 0.90 | −0.034 | 5.10E-09 | FGF5 | |
| rs6853490 | 4 | 95544718 | A | G | 0.58 | 0.98 | 0.031 | 1.00E-08 | PDLIM5 | |
| rs9285863 | 5 | 108071655 | T | C | 0.66 | 0.99 | −0.036 | 4.20E-10 | FER | |
| rs35564079 | 5 | 172670611 | C | CT | 0.71 | 0.97 | −0.035 | 3.00E-08 | NKX2-5 | |
| rs2853975 | 6 | 31382717 | A | T | 0.71 | 0.99 | −0.042 | 2.60E-12 | MICA | |
| rs733590 | 6 | 36645203 | T | C | 0.65 | 1.00 | −0.035 | 2.20E-10 | CDKN1A | |
| rs4707174 | 6 | 85987918 | A | C | 0.70 | 0.98 | −0.036 | 5.30E-10 | NT5E | |
| 6 | 87836772 | ACACACACACC | A | 0.65 | 0.77 | 0.035 | 3.40E-08 | ZNF292 | ||
| rs2107595 | 7 | 19049388 | G | A | 0.84 | 0.99 | 0.079 | 5.80E-27 | TWIST1 | |
| rs343044 | 7 | 35508859 | A | G | 0.20 | 0.99 | −0.047 | 1.50E-12 | TBX20 | |
| rs36086322 | 8 | 75735030 | C | T | 0.93 | 1.00 | 0.059 | 8.40E-09 | PI15 | |
| rs574214679 | 8 | 120244723 | A | G | 1.00 | 0.71 | 0.413 | 1.10E-08 | MAL2 | |
| rs10740811 | 10 | 30167754 | G | A | 0.41 | 1.00 | 0.057 | 6.40E-25 | SVIL | |
| rs2901761 | 10 | 95895127 | G | A | 0.59 | 1.00 | 0.058 | 1.70E-25 | PLCE1 | |
| 11 | 117085914 | CTTA | C | 0.94 | 1.00 | −0.068 | 6.60E-10 | PCSK7 | ||
| rs10894192 | 11 | 130266117 | T | A | 0.42 | 0.98 | −0.030 | 4.90E-08 | ADAMTS8 | |
| rs4759275 | 12 | 57525756 | G | A | 0.58 | 1.00 | 0.035 | 8.10E-11 | STAT6 | Guo et al. 2016 |
| rs10744777 | 12 | 112233018 | T | C | 0.66 | 1.00 | −0.035 | 8.80E-10 | ALDH2 | |
| rs12889267 | 14 | 21542766 | A | G | 0.83 | 1.00 | 0.048 | 2.90E-11 | ARHGEF40 | |
| rs422068 | 14 | 23864804 | T | C | 0.64 | 1.00 | 0.036 | 1.10E-09 | MYH6 | |
| rs12590407 | 14 | 24835115 | G | A | 0.29 | 1.00 | 0.034 | 1.40E-08 | NFATC4 | |
| rs12890024 | 14 | 94469801 | A | G | 0.62 | 0.98 | 0.038 | 2.10E-11 | OTUB2 | |
| rs12913300 | 15 | 40655444 | C | T | 0.83 | 1.00 | −0.052 | 1.20E-12 | DISP2 | |
| rs17352842 | 15 | 48694211 | C | T | 0.81 | 1.00 | −0.037 | 2.20E-08 | FBN1 | LeMaire et al. 2011, Guo et al. 2016, van ‘t Hof et al. 2016 |
| rs1048661 | 15 | 74219546 | G | T | 0.66 | 0.99 | −0.038 | 2.30E-11 | LOXL1 | Vasan et al. 2009 |
| rs116901435 | 15 | 79059695 | C | T | 0.58 | 0.98 | −0.032 | 7.90E-09 | ADAMTS7 | |
| rs62053262 | 16 | 69969299 | C | G | 0.95 | 0.99 | 0.087 | 3.50E-12 | WWP2 | |
| rs894871 | 17 | 77910932 | A | G | 0.68 | 0.98 | −0.032 | 7.50E-09 | TBC1D16 | |
| rs8094206 | 18 | 46317137 | G | A | 0.89 | 0.98 | 0.052 | 2.00E-09 | CTIF | |
| rs55678414 | 19 | 2177625 | T | G | 0.94 | 1.00 | 0.088 | 6.70E-15 | DOT1L | |
| rs2303040 | 19 | 39138608 | T | C | 0.51 | 0.99 | −0.037 | 9.50E-11 | ACTN4 | |
| rs1673096 | 19 | 41042755 | A | G | 0.52 | 0.99 | 0.031 | 3.20E-08 | SPTBN4 | |
| rs11668847 | 19 | 46210365 | T | G | 0.48 | 0.98 | 0.033 | 5.30E-10 | FBXO46 | |
| rs76496822 | 20 | 10687240 | G | T | 0.96 | 0.99 | −0.072 | 4.00E-08 | JAG1 | |
| rs76530933 | 23 | 135204774 | G | T | 0.73 | 0.94 | −0.030 | 3.10E-08 | FHL1 |
The lead SNPs from the GWAS for the diameter of the descending thoracic aorta. SNP, the rsID of the variant, where available; for variants that are not in dbSNP, this column is left blank. BP, genomic position, keyed to GRCh37. EAF, effect allele frequency. INFO, imputation INFO score. BETA, effect size per effect allele on the inverse normal transformed trait. P, the BOLT-LMM association P value. Prior, known from prior publications addressing common genetic variation linked to aortic size, aortic aneurysm, or aortic dissection25–29.