Table 2.
Seventeen new TAAD risk loci after discovery in the MVP and independent replication
Chr:pos (hg19) | rsID | EA | NEA | EAF | Overall OR | Overall 95% CI | Overall P | Gene/locus* | Annotation |
---|---|---|---|---|---|---|---|---|---|
1:9,436,538 | rs4596926 | A | G | 0.404 | 1.10 | 1.07–1.13 | 3.94 × 10−11 | (SPSB1) | regulatory_region_variant |
2:164,915,279 | rs13002621 | G | A | 0.222 | 1.12 | 1.08–1.15 | 2.68 × 10−12 | AC092684.1 | intron_variant |
2:19,729,131 | rs1863777 | T | C | 0.361 | 1.14 | 1.11–1.17 | 1.67 × 10−19 | (OSR1) | intergenic_variant |
2:238,227,919 | rs6759927 | G | A | 0.301 | 1.11 | 1.08–1.14 | 3.57 × 10−12 | COL6A3 | downstream_gene_variant |
4:146,814,640 | rs7666150 | C | T | 0.504 | 1.13 | 1.10–1.16 | 6.58 × 10−17 | ZNF827 | intron_variant |
5:122,441,482 | rs337128 | C | A | 0.513 | 1.12 | 1.09–1.15 | 2.74 × 10−16 | PRDM6 | intron_variant |
5:95,566,562 | rs55745974 | A | T | 0.658 | 1.20 | 1.16–1.23 | 1.54 × 10−32 | CTD-2337A12.1 | intron_variant |
7:35,293,972 | rs336284 | A | G | 0.485 | 1.1 | 1.08–1.14 | 6.23 × 10−13 | TBX20 | upstream_gene_variant |
7:73,431,693 | rs62465578 | T | G | 0.431 | 1.18 | 1.15–1.21 | 2.94 × 10−31 | (ELN) | regulatory_region_variant |
9:127,883,905 | rs139650453 | A | G | 0.875 | 1.15 | 1.10–1.20 | 4.98 × 10−10 | SCAI | intron_variant |
10:96,061,793 | rs4394764 | G | A | 0.810 | 1.15 | 1.11–1.19 | 4.52 × 10−17 | PLCE1 | intron_variant |
11:130,271,647 | rs747249 | G | A | 0.619 | 1.16 | 1.13–1.19 | 5.50 × 10−25 | ADAMTS8 | downstream_gene_variant |
13:22,861,921 | rs9316871 | A | G | 0.783 | 1.21 | 1.18–1.25 | 3.03 × 10−32 | (AL354828.1) | regulatory_region_variant |
13:50,810,171 | rs2765768 | G | A | 0.307 | 1.10 | 1.07–1.13 | 4.85 × 10−11 | DLEU1 | intron_variant |
15:71,612,514 | rs1441358 | T | G | 0.643 | 1.12 | 1.09–1.15 | 4.50 × 10−16 | THSD4 | intron_variant |
16:83,045,790 | rs7500448 | G | A | 0.241 | 1.13 | 1.09–1.16 | 2.47 × 10−13 | CDH13 | intron_variant |
17:2,097,583 | rs1002135 | G | T | 0.398 | 1.11 | 1.09–1.14 | 5.10 × 10−16 | SMG6 | intron_variant |
*Genes for variants that are outside the transcript boundary of a protein-coding gene are shown with the nearest candidate gene in parentheses (for example, (OSR1)).