Table 2.
Patients with a specific genetic variant categorized by presumed etiology
| Genetic variant | APP (deletion) | APP (SNP) | ACE | PAI-1 | Factor XII | Total number of patients with at least one genetic variant* | |
|---|---|---|---|---|---|---|---|
| Presumed etiology (n) | (deletion) | (C/A) | (A) | (I/I polymorphism) | (5G/5G polymorphism) | (C/A, A, C/G, or G) | |
| ACE-inhibitor (3) | 0 | 0 | 0 | 0 | 1 (1.9%) | 0 | 1 (1.9%) |
| Malignancy (3) | 0 | 1 (1.9%) | 0 | 0 | 0 | 0 | 1 (1.9%) |
| Autoimmune (5) | 0 | 0 | 0 | 2 (3.8%) | 2 (3.8%) | 0 | 3 (5.8%) |
| NSAID (2) | 0 | 0 | 1 (1.9%) | 0 | 0 | 0 | 1 (1.9%) |
| Idiopathic (39) | 0 | 7 (13.5%) | 4 (7.7%) | 8 (15.4%) | 10 (19.2%) | 0 | 22 (42.3%) |
| Total (52) | 0 | 8 (15.4%) | 5 (9.6%) | 10 (19.2%) | 13 (25%) | 0 | 28 (53.8%) |
APP, Aminopeptidase P; ACE, Angiotensin-converting enzyme; PAI-1, Plasminogen-activator inhibitor-1; NSAID, Nonsteroidal anti-inflammatory drug; SNP, Single nucleotide polymorphism. Specific genetic variants were tested in the following genes: APP(deletion g.2953-3127del); APP, (SNP -2399C > A, dbSNP: rs3788853); ACE(insertion/deletion I/D polymorphism, dbSNP: rs1799752)); PAI-1(4G/5G polymorphism); Factor XII( mutations c.1032C > A or c.1032C > G).*Some patients had a genetic variant in multiple genes. Note: only significant genetic variants are reported, as indicated in title row.
Abbreviations: AE angioedema, C1-INH, C1-inhibitor, ACE angiotensin converting enzyme, NSAID nonsteroidal anti-inflammatory drug, HAE hereditary angioedema, PAI-1 plasminogen-activator inhibitor-1, APP aminopeptidase P.