Table 3.
Most significant associations with AAA discovered in candidate gene and pathway-based studies.
| Gene name (study) | Functional class | Polymorphism | AAA cases N |
Controls N |
OR [95% CI] |
Association P valuea |
|---|---|---|---|---|---|---|
| SORT1 [47]b | Lipid metabolism | rs599839 | 7,048 | 75,976 | 0.81 [0.76–0.85] |
7.2 × 10−14 |
| IL6R [49] | Inflammation | rs7529229 | 4,524 | 15,710 | 0.84 [0.80–0.89] |
2.7 × 10−11 |
| LPA [50] | Lipid metabolism | rs10455872 with rs3798220 |
4,572 | 33,520 | 1.23 [1.11–1.36] |
6.0 × 10−5 |
| AGTR1 [51]b | Renin-angiotensin system | rs5186 | 1,226 | 1,723 | 1.60 [1.32–1.93] |
1.1 × 10−6 |
| TGFBR2 [52]b | TGFB signaling | rs1036095 | 1,904 | 2,616 | 1.59 [1.23–2.07] |
4.8 × 10−4 |
| TGFBR2 [52]b | TGFB signaling | rs764522 | 1,904 | 2,616 | 1.69 [1.28–2.25] |
2.7 × 10−4 |
| ACE [53]b | Renin-angiotensin system | rs4646994 | 1,415 | 1,677 | 1.35 [1.17–1.56] |
<0.0001 |
| MMP3 [54]b | Degradation of ECM | rs3025058 | 1,258 | 1,406 | 1.48 [1.23–1.78] |
3.95 × 10−5 |
| MMP13 [55]b | Degradation of ECM | rs2252070 | 800 | 843 | 1.37 [1.04–1.82] |
NA |
| MTHFD1 [56] | Methionine metabolism | rs8003379 | 423 | 423 | 0.41 [0.26–0.65] |
<0.0001 |
| MTRR [56] | Methionine metabolism | rs326118 | 423 | 423 | 0.47 [0.29–0.77] |
0.003 |
| LRP5 [57] | Lipid metabolism | rs3781590 rs4988300 |
423 | 423 | 2.16 [1.41–3.29] |
<0.0001 |
OR: odds ratio; 95% CI: 95% confidence interval; ECM: extracellular matrix; TGFB: transforming growth factor beta; NA: not available. Gene symbols are available from http://www.ncbi.nlm.nih.gov/gene/.
a P-values were taken from either a meta-analysis or the largest report demonstrating association with AAA and cited in the first column.
bMeta-analysis.
Modified from [4].