Examination of genetic variants involved in generation and biodisposition of kinins in patients with angioedema

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)	Total number of patients with at least one genetic variant*
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.

ISSN: 1710-1492