domingo, 1 de marzo de 2015

Examination of genetic variants involved in generation and biodispo... - PubMed - NCBI

Examination of genetic variants involved in generation and biodispo... - PubMed - NCBI



 2014 Dec 12;10(1):60. doi: 10.1186/s13223-014-0060-y. eCollection 2014.

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

Abstract

BACKGROUND:

Angioedema (AE) is idiopathic in the majority of cases. We studied patients with AE for genetic variants of proteins involved with bradykinin generation and biodisposition.

METHODS:

One hundred sixty one patients with AE were recruited at a university hospital clinic. Patients were categorized according to the proposed pathogenesis of AE: low C1 inhibitor (C1-INH) and C4 levels, autoimmune disease, cancer, angiotensin-converting enzyme (ACE) inhibitor-induced, nonsteroidal antiinflammatory drug (NSAID)-induced, or idiopathic. In addition, each patient had a blood sample analyzed for a complement profile and enzymes (C1-INH and C4). Fifty-two of the patients were tested for genetic variants in factor XII, plasminogen-activator inhibitor-1 (PAI-1), ACE, and aminopeptidase P (APP).

RESULTS:

The cause of angioedema was identified in 59/161 (37%) of the cases: 3 (2%) patients had a low plasma C1-INH and C4; 20 (12%) were ACE inhibitor-induced; 12 (7%) were associated with autoimmune disorders; 7 (4%) were associated with malignancy; and 17 (11%) were associated with NSAIDs. In the remaining 102 (63%) patients the cause of angioedema was idiopathic. Of 52 patients with genetic analysis, 13 (25%) had a genetic variant in APP, 10 (19%) in ACE, 13 (25%) in PAI-1, and 0 in Factor XII.

CONCLUSIONS:

In addition to related diseases and medications causing AE, certain genetic variants encoding proteins involved in bradykinin generation and/or catabolism pathways may be involved in the pathogenesis of AE.

KEYWORDS:

Aminopeptidase P; Angioedema; Angiotensin-converting enzyme; Factor XII; Plasminogen-activator inhibitor-1

PMID:
 
25670937
 
[PubMed] 
PMCID:
 
PMC4323216
 
Free PMC Article

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