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

Details

• Alternative Title:
  Allergy Asthma Clin Immunol
• Personal Author:
  Levy, Jonathan ; Rivard, Georges-Etienne ; Wagner, Eric ; Beezhold, Don ; Berlin, Noam ; Fan, Li ; Zhang, Zhao ; Sussman, Gordon L
• Description:
  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.
• Subjects:
  • Research
  • Angioedema
  • Plasminogen-activator inhibitor-1
  • Aminopeptidase P
  • Angiotensin-converting enzyme
  • Factor XII
• Source:
  Allergy Asthma Clin Immunol. 10(1).
• Document Type:
  Journal Article
• Volume:
  10
• Issue:
  1
• Download URL:
  https://stacks.cdc.gov/view/cdc/27593/cdc_27593_DS1.pdf
• File Type:
  [PDF - 416.68 KB]
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:4c9ba2ac79f386b3b32b7dd686aa3ed9def9973bf75c105b7edb4fa9ee1e9a2e