Table 2. Top SNPs associated with abdominal aortic aneurysm.
SNP | Chr: BP (GRCh37) | Allele | Nearest Gene | Type | MAF (%) | OR (95% CI) | P-value |
---|---|---|---|---|---|---|---|
rs116390453 | 5:27,997,008 | C/T | LINC01021 | Intergenic | 0.77 | 2.505 (1.84–3.4) | 4.26x10-9 |
rs7936928 | 11:130,279,168 | C/T | ADAMTS8 | Intronic | 39.3 | 0.786 (0.724–0.853) | 7.51x10-9 |
rs4936099 | 11:130,280,725 | A/C | ADAMTS8 | Intronic | 40.7 | 0.789 (0.727–0.856) | 1.05x10-8 |
rs11222084 | 11:130,273,230 | A/T | ADAMTS8 | Intergenic | 36.7 | 0.785 (0.723–0.853) | 1.12x10-8 |
rs3740888 | 11:130,278,210 | T/C | ADAMTS8 | Intronic | 39.4 | 0.790 (0.728–0.858) | 1.59x10-8 |
rs113626898 | 2:86,015,431 | G/A | ATOH8 | UTR3 | 0.59 | 2.714 (1.93–3.82) | 9.06x10-9 |
rs193181528 | 9:5,059,543 | T/C | JAK2 | Intronic | 0.58 | 2.776 (1.93–3.99) | 3.26x10-8 |
rs1537373 | 9:22,103,341 | G/T | CDKN2B-AS1 | ncRNA | 49.4 | 0.821 (0.76–0.887) | 6.68x10-7 |
rs12740374 | 1:109,817,590 | G/T | CELSR2 | 3’-UTR | 21.8 | 0.767 (0.694–0.848 | 2.04x10-7 |
rs629301 | 1:109,818,306 | T/G | CELSR2 | 3’-UTR | 22 | 0.770 (0.697–0.851) | 2.78x10-7 |
rs646776 | 1:109,818,530 | T/C | CELSR2 | downstream | 22 | 0.770 (0.697–0.851) | 2.83x10-7 |
rs3832016 | 1:109,818,158 | C/CT | CELSR2 | 3’-UTR | 21.3 | 0.768 (0.694–0.85) | 3.35x10-7 |
rs660240 | 1:109,817,838 | C/T | CELSR2 | 3’-UTR | 21.3 | 0.771 (0.696–0.853) | 4.36x10-7 |
rs7528419 | 1:109,817,192 | A/G | CELSR2 | 3’-UTR | 22 | 0.777 (0.703–0.858) | 6.81x10-7 |
7 variants in 4 genes, LINC01021, ADAMTS8, ATOH8 and JAK2, reached genome-wide significance P-value of < 5 x10-8, while 7 additional variants in CDKN2B-AS1 and CELSR2, while not statistically significant, replicated findings from earlier studies. Of these, LINC01021, ATOH8 and JAK2 are novel AAA-associated loci identified in the present study (bold faced). Chr:BP denotes the chromosome location and NCBI Build 37 SNP physical position. Variants that are in linkage disequilibrium (LD) are identically colored. MAF, minor allele frequency. OR, odds ratio.