Table II.
Genes of the extracellular matrix (ECM) – structure and remodeling of the aortic wall
| Gene | Polymorphisms | Number of studies* |
|
|---|---|---|---|
| Associated | Not associated | ||
| COL3A1 | G619R | 3 (0)44 in 28 AAA-families, 45, 46 | |
| A531T | 3 (0)44, 45, 47 one study on AAA+PAA | ||
| 581 T>C | 1 (1)48 | ||
| Ava II rare allele | 1 (0)45 | ||
| FBN1 | 4 allele repeat | 1 (0)47 AAA vs AAA+PAA | |
| ELN | 422 G>A | 1 (1)48 in males with family history | 2 (1)48, 56 |
| ABCC6 | 31 mutations, c.1964 A>G, c.2171 G>A, c.2175 A>T, c.2224 A>T, c.4254 G>A | 1 (1)57 | |
| FBLN5 | rs2498834, rs2430366, rs2254320 | 1 (1)65 | |
| MMP1 | −1670 G/GG | 1 (1)48 | |
| MMP2 | −955 A>C | 1 (1)48 | |
| −1360 C>T | 2 (2)67, 68 AAA expansion | ||
| rs243865, rs2053605 | 1 (1)216 | ||
| MMP3 | −1612 5A/6A | 2 (2)48 in males with family history,70 | 3 (2)48, 67, 71 one study on AAA expansion |
| −1171 5A/6A | 1 (1)68 AAA expansion | ||
| MMP9 | rs3918242 | 1 (1)74 AAA vs PVD | 8 (6)48, 67, 68, 71, 75, 76 two studies on AAA expansion |
| −131 to −90 (CA repeat) | 2 (0)76, 77 | ||
| MMP10 | 180 A>G | 1 (1)48 | |
| MMP12 | −82 A>G | 3 (3)48, 67, 68 two studies on AAA expansion | |
| MMP13 | −77 A>G | 1 (1)48 | |
| TIMP1 | 434 C>T | 1 (1)48 males without family history | 1 (1)48 males with family history |
| −372 C>T | 1 (1)68 AAA expansion | ||
| rs2070584 | 1 (1)48 males without family history | 1 (1)48 males with family history | |
| TIMP2 | rs2009196 | 1 (1)48 | |
| TIMP3 | −1296 T>C | 1 (1)48 | |
| SERPINA1 | α1-AT P1 deficiency | 1 (0)82 | 1 (0)81 AAA vs IA |
| SERPINE1 | −675 4G/5G | 1 (0)217 AAA families | 3 (3)67, 68, 71, 86 three studies on AAA expansion |
| −847 A>G | 1 (1)68 AAA expansion | ||
| SPP1 | rs1126772, rs9138, rs4754, rs1126616, rs11730582 | 1 (1)91 | |
| XYLT1 | 343 G>T | 1 (0)92 | |
| CST3 | −148 G>A | 1 (1)96 AAA expansion | |
| −82 G>C | 1 (1)96 AAA expansion | ||
*
Number in parenthesis indicates the number of studies with a sample size of at least 150 cases and 150 controls.
If multiple sample sets were used in one publication, they were treated as independent studies.
AAA, abdominal aortic aneurysm; PAA, popliteal artery aneurysm; IA, intracranial aneurysm; PVD: peripheral vascular disease
Gene symbols available from the National Center for Biotechnology Information (NCBI; http://www.ncbi.nlm.nih.gov/) were used.