Table 2 |.
GWAS loci for the ascending thoracic aorta
| SNP | CHR | BP | Effect allele | Other allele | EAF | INFO | BETA | P | Nearest gene | Prior |
|---|---|---|---|---|---|---|---|---|---|---|
| rs2871651 | 1 | 9434969 | C | T | 0.58 | 0.99 | −0.042 | 5.80E-12 | SPSB1 | |
| rs67631072 | 1 | 38461821 | C | T | 0.45 | 0.99 | 0.041 | 1.40E-12 | SF3A3 | |
| rs3768274 | 1 | 41951383 | C | T | 0.50 | 0.98 | −0.040 | 6.70E-12 | EDN2 | |
| rs11207420 | 1 | 59646524 | G | A | 0.73 | 1.00 | −0.042 | 1.30E-10 | FGGY | Vasan et al. 2009 |
| rs72727759 | 1 | 185663021 | T | C | 0.74 | 0.99 | −0.041 | 2.10E-09 | HMCN1 | |
| rs35534155 | 1 | 237207943 | A | ATT | 0.19 | 0.90 | −0.047 | 9.70E-09 | RYR2 | |
| rs6707048 | 2 | 19720468 | T | C | 0.32 | 1.00 | 0.084 | 3.50E-41 | OSR1 | |
| rs138963986 | 2 | 145752940 | G | A | 0.93 | 0.96 | 0.068 | 4.00E-08 | ZEB2 | |
| rs12992231 | 2 | 148799710 | C | A | 0.64 | 1.00 | −0.039 | 8.10E-09 | MBD5 | |
| rs16849225 | 2 | 164906820 | C | T | 0.77 | 1.00 | −0.053 | 1.90E-15 | FIGN | |
| rs12052878 | 2 | 238227594 | G | A | 0.69 | 1.00 | −0.045 | 1.10E-11 | COL6A3 | |
| rs11712199 | 3 | 14858226 | G | A | 0.91 | 0.99 | 0.069 | 1.40E-12 | FGD5 | |
| rs9847006 | 3 | 41755359 | T | C | 0.83 | 1.00 | −0.075 | 3.80E-20 | ULK4 | Guo et al. 2016 |
| rs545996255 | 3 | 58100423 | G | GT | 0.70 | 0.97 | 0.057 | 5.10E-18 | FLNB | |
| rs2306272 | 3 | 66434643 | T | C | 0.71 | 1.00 | −0.043 | 1.50E-11 | LRIG1 | |
| rs55914222 | 3 | 128202943 | G | C | 0.97 | 0.99 | 0.179 | 3.90E-22 | GATA2 | |
| rs1108450 | 3 | 186995297 | T | G | 0.83 | 0.99 | −0.050 | 1.50E-09 | MASP1 | |
| rs16998073 | 4 | 81184341 | A | T | 0.71 | 1.00 | −0.036 | 3.50E-08 | FGF5 | |
| rs67846163 | 4 | 174656889 | A | G | 0.77 | 0.99 | −0.072 | 2.30E-24 | HAND2 | |
| rs73766539 | 5 | 81722919 | C | T | 0.79 | 1.00 | 0.048 | 6.80E-10 | ATP6AP1L | |
| rs72787618 | 5 | 95591331 | A | G | 0.63 | 0.99 | 0.099 | 3.20E-58 | PCSK1 | |
| rs17470137 | 5 | 122531347 | G | A | 0.73 | 1.00 | −0.058 | 5.80E-19 | PRDM6 | Vasan et al. 2009 |
| rs76888257 | 5 | 169809901 | C | T | 0.90 | 1.00 | 0.062 | 1.30E-08 | KCNMB1 | |
| rs496236 | 6 | 11641601 | A | G | 0.46 | 1.00 | 0.034 | 7.20E-10 | ADTRP | |
| rs1630736 | 6 | 12295987 | C | T | 0.54 | 0.99 | −0.046 | 8.30E-15 | EDN1 | |
| rs12199346 | 6 | 36641546 | C | A | 0.76 | 1.00 | −0.046 | 2.00E-10 | CDKN1A | |
| rs6459130 | 6 | 56055564 | G | T | 0.44 | 1.00 | −0.033 | 3.30E-10 | COL21A1 | |
| rs1570350 | 6 | 143592386 | A | G | 0.56 | 0.99 | −0.059 | 2.90E-22 | AIG1 | |
| rs13203975 | 6 | 152333104 | G | A | 0.89 | 0.99 | 0.070 | 3.30E-13 | ESR1 | |
| rs79215950 | 7 | 35277067 | G | A | 0.62 | 1.00 | 0.065 | 7.80E-23 | TBX20 | |
| rs6974735 | 7 | 73428222 | A | G | 0.55 | 1.00 | −0.111 | 7.90E-77 | ELN | |
| rs1583081 | 7 | 85034227 | G | T | 0.58 | 1.00 | −0.075 | 2.40E-36 | SEMA3D | |
| rs483916 | 8 | 9793601 | A | C | 0.48 | 0.99 | 0.044 | 1.30E-12 | MSRA | |
| rs11785562 | 8 | 23391493 | G | A | 0.80 | 0.97 | −0.043 | 3.70E-10 | SLC25A37 | |
| rs9721183 | 8 | 75781818 | C | T | 0.63 | 0.95 | 0.048 | 1.40E-14 | PI15 | |
| rs16876090 | 8 | 108363596 | G | A | 0.91 | 0.99 | −0.080 | 1.40E-15 | ANGPT1 | |
| rs562291939 | 8 | 120709336 | T | C | 1.00 | 0.80 | 0.744 | 5.10E-26 | ENPP2 | |
| rs10111085 | 8 | 122646152 | G | T | 0.71 | 0.99 | 0.048 | 2.00E-12 | HAS2 | |
| rs34557926 | 8 | 124607159 | C | T | 0.63 | 0.99 | −0.060 | 2.90E-22 | FBXO32 | |
| rs112342612 | 8 | 141047976 | AAC | A | 0.40 | 0.95 | −0.035 | 3.30E-09 | TRAPPC9 | |
| rs4978966 | 9 | 113662374 | C | T | 0.79 | 1.00 | 0.049 | 2.50E-11 | LPAR1 | |
| rs1757223 | 10 | 18514999 | G | A | 0.24 | 0.99 | 0.042 | 2.00E-09 | CACNB2 | |
| rs16916931 | 10 | 63813744 | A | T | 0.69 | 0.98 | 0.045 | 1.20E-12 | ARID5B | |
| rs7090111 | 10 | 65077994 | C | G | 0.58 | 1.00 | 0.044 | 3.10E-13 | JMJD1C | |
| rs71482305 | 10 | 96119130 | C | T | 0.84 | 1.00 | 0.079 | 6.30E-23 | NOC3L | |
| rs1340837 | 10 | 97542035 | A | G | 0.59 | 1.00 | 0.031 | 4.90E-09 | ENTPD1 | |
| rs11196083 | 10 | 114500004 | G | T | 0.77 | 1.00 | −0.049 | 1.60E-11 | VTI1A | |
| rs77889556 | 11 | 17498057 | G | A | 0.83 | 0.91 | −0.056 | 8.40E-12 | ABCC8 | |
| rs3741025 | 11 | 30851976 | C | T | 0.43 | 0.99 | 0.041 | 1.70E-10 | DCDC1 | |
| rs111412755 | 11 | 69819139 | C | T | 0.91 | 0.98 | −0.093 | 7.80E-20 | ANO1 | Wild et al. 2017 |
| rs12286728 | 11 | 113022450 | G | C | 0.90 | 1.00 | 0.056 | 3.10E-08 | NCAM1 | |
| rs747249 | 11 | 130271647 | A | G | 0.36 | 0.99 | −0.044 | 1.30E-12 | ADAMTS8 | |
| rs61907983 | 12 | 15448631 | C | T | 0.91 | 0.97 | 0.062 | 2.60E-08 | RERG | |
| rs2307024 | 12 | 22005003 | T | G | 0.59 | 0.99 | 0.054 | 2.30E-18 | ABCC9 | |
| rs56298756 | 12 | 62777565 | G | T | 0.89 | 1.00 | −0.082 | 8.40E-16 | USP15 | |
| rs10400419 | 12 | 66389968 | T | C | 0.45 | 0.95 | 0.036 | 2.50E-09 | LLPH | Vasan et al. 2009, Wild et al. 2017 |
| rs7302816 | 12 | 89950320 | A | C | 0.80 | 0.98 | −0.043 | 2.50E-08 | GALNT4 | |
| rs2363080 | 12 | 94140463 | C | G | 0.56 | 0.99 | 0.037 | 4.30E-10 | CRADD | |
| rs11112482 | 12 | 105738183 | C | G | 0.77 | 0.99 | −0.039 | 2.10E-08 | C12orf75 | |
| rs61937394 | 12 | 116756670 | T | G | 0.81 | 0.91 | 0.042 | 1.60E-08 | MED13L | |
| rs7994761 | 13 | 22871446 | A | G | 0.78 | 0.99 | 0.109 | 1.30E-52 | FGF9 | |
| rs2687941 | 13 | 50760363 | T | C | 0.55 | 0.99 | −0.032 | 3.70E-08 | DLEU1 | |
| rs4905134 | 14 | 94459845 | A | G | 0.50 | 0.99 | 0.055 | 5.40E-20 | ASB2 | |
| rs3803359 | 15 | 40662748 | G | A | 0.83 | 1.00 | −0.044 | 7.50E-09 | DISP2 | |
| rs2118181 | 15 | 48915884 | T | C | 0.90 | 0.99 | −0.082 | 2.30E-16 | FBN1 | LeMaire et al. 2011, Guo et al. 2016, van ‘t Hof et al. 2016 |
| rs1441358 | 15 | 71612514 | T | G | 0.66 | 1.00 | 0.053 | 8.10E-17 | THSD4 | |
| rs369339295 | 16 | 56322945 | A | AAG | 0.68 | 0.97 | 0.042 | 1.50E-10 | GNAO1 | |
| rs62053262 | 16 | 69969299 | C | G | 0.95 | 0.99 | 0.187 | 4.00E-42 | WWP2 | |
| rs546590249 | 16 | 71104575 | A | C | 0.99 | 0.38 | 0.275 | 2.70E-08 | HYDIN | |
| rs7500448 | 16 | 83045790 | A | G | 0.75 | 0.98 | −0.045 | 2.90E-11 | CDH13 | |
| rs16965180 | 16 | 88989862 | A | G | 0.65 | 0.99 | 0.063 | 1.20E-21 | CBFA2T3 | |
| 17 | 2088848 | CCAGA | C | 0.68 | 1.00 | −0.063 | 6.80E-24 | SMG6 | Vasan et al. 2009, Wild et al. 2017 | |
| rs78180894 | 17 | 7483662 | G | C | 0.93 | 0.94 | −0.072 | 6.60E-09 | CD68 | |
| rs7215383 | 17 | 12182246 | A | G | 0.25 | 0.99 | 0.078 | 4.90E-29 | MAP2K4 | |
| rs6505216 | 17 | 29206421 | G | T | 0.77 | 0.92 | 0.053 | 2.00E-11 | ATAD5 | |
| rs76954792 | 17 | 30033514 | C | T | 0.77 | 0.98 | 0.044 | 3.90E-09 | COPRS | |
| rs264203 | 18 | 10882121 | A | C | 0.38 | 0.99 | −0.035 | 2.50E-08 | PIEZO2 | |
| rs7257694 | 19 | 30314666 | C | T | 0.60 | 0.99 | −0.039 | 3.00E-10 | CCNE1 | |
| rs3063286 | 20 | 10488552 | T | TTA | 0.47 | 0.94 | 0.034 | 2.20E-09 | SLX4IP | |
| rs6075516 | 20 | 19455985 | G | A | 0.75 | 0.97 | 0.040 | 6.30E-09 | SLC24A3 | |
| rs28451064 | 21 | 35593827 | G | A | 0.87 | 0.96 | 0.051 | 4.20E-08 | KCNE2 | |
| rs4402860 | 22 | 40554445 | A | T | 0.80 | 1.00 | 0.057 | 7.30E-14 | TNRC6B |
The lead SNPs from the GWAS for the diameter of the ascending 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.