Table VI.
The 19 single nucleotide polymorphisms (SNPs) significantly (P<1.21×10−6) associated with dissecting aortic aneurysm in an exome-wide association study (EWAS).
| Gene | dbSNP | Nucleotide (amino acid) substitutiona | Chromosome: position | MAF (%) | P-value (allele) | OR |
|---|---|---|---|---|---|---|
| ATXN7 | rs3774729 | G/A (V862M) | 3:63996406 | 46.8 | 3.81×10−35 | 0.91 |
| KIAA1217 | rs10828663 | G/A (A807T) | 10:24524525 | 10.4 | 1.34×10−27 | 0.78 |
| RNASE13 | rs143881017 | C/T (R140H) | 14:21033870 | 0.5 | 5.12×10−26 | 4.48 |
| INPP5F | rs3736822 | A/G (I453V) | 10:119806397 | 1.7 | 8.50×10−23 | 0.62 |
| rs9683944 | A/G | 4:137512008 | 10.8 | 4.61×10−17 | 1.17 | |
| rs9610342 | A/G | 22:35734530 | 30.7 | 8.20×10−17 | 0.79 | |
| FAM98C | rs3745962 | C/A (T240K) | 19:38405604 | 16.7 | 8.99×10−15 | 0.96 |
| ZNF474 | rs201335566 | G/A (R253Q) | 5:122152748 | 0.5 | 1.02×10−12 | 1.95 |
| rs3135365 | T/G | 6:32421478 | 18.9 | 1.21×10−12 | 0.86 | |
| DEPDC7 | rs34161108 | G/A (A192T) | 11:33027795 | 6.2 | 2.29×10−12 | 0.74 |
| ARHGEF28 | rs536568 | A/C | 5:73935841 | 45.8 | 5.53×10−12 | 1.04 |
| RALGPS1 | rs57728614 | G/T (G383C) | 9:127196583 | 9.5 | 5.73×10−11 | 0.84 |
| AIM1L | rs34370465 | C/T (R847H) | 1:26344118 | 23.9 | 3.63×10−10 | 1.09 |
| ANXA7 | rs3750575 | C/T (R419Q) | 10:73378933 | 5.7 | 4.20×10−10 | 1.06 |
| AXDND1 | rs41267592 | C/T (T627M) | 1:179468524 | 0.3 | 1.77×10−8 | ND |
| rs2138852 | A/G | 17:29376331 | 2.5 | 1.49×10−7 | 1.32 | |
| CHAT | rs78925077 | C/G (S119R) | 10:49622109 | 0.5 | 1.50×10−7 | 1.93 |
| GPR156 | rs902790 | A/T (E512D) | 3:120167929 | 4.8 | 2.24×10−7 | 0.71 |
| SELE | rs5361 | T/G (S149R) | 1:169731919 | 3.3 | 3.58×10−7 | 0.98 |
Allele frequencies were analyzed with Fisher's exact test.
a
Major allele/minor allele. MAF, minor allele frequency; OR, odds ratio; ND, not determined.