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. 2021 Sep 1;16(9):e0247287. doi: 10.1371/journal.pone.0247287

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.