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

Details

• Personal Author:
  Beezhold, Donald H. ; Berlin N ; Fan L ; Levy J ; Rivard G-E ; Sussman GL ; Wagner E ; Zhang Z
• 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. Description provided by NIOSH
• Subjects:
  • Blood
  • Chronic Disease
  • DNA
  • Enzymes
  • Genetics
  • Hematologic Tests
  • Men
  • Neoplasms
  • Occupational Health
  • Safety
  More +
• Keywords:
  • Genetics
  • Mutation
  • Proteins
  • Humans
  • Men
  • Women
  • Pathogenesis
  • Autoimmunity
  • DNA-damage
  • Cancer
  More +
• ISSN:
  1710-1492
• Document Type:
  Text
• Genre:
  Journal Article
• Place as Subject:
  OSHA Region 3 ; West Virginia
• CIO:
  National Institute for Occupational Safety and Health (NIOSH)
• Division:
  HELD - Health Effects Laboratory Division
• Topic:
  Workplace Safety & Health
• Location:
  North America
• Pages in Document:
  60
• Volume:
  10
• NIOSHTIC Number:
  nn:20045817
• Citation:
  Allergy Asthma Clin Immunol 2014 Dec; 10:60
• Contact Point Address:
  Jonathan Levy, Division of Dermatology and Cutaneous Sciences, University of Alberta, 2-166 Clinical Sciences Building, 11350 - 83 Avenue, Edmonton, Alberta T6G 2G3, Canada
• Email:
  levy1@ualberta.ca
• Federal Fiscal Year:
  2015
• Peer Reviewed:
  True
• Source Full Name:
  Allergy, Asthma, and Clinical Immunology
• Download URL:
  https://stacks.cdc.gov/view/cdc/201100/cdc_201100_DS1.pdf
• File Type:
  [PDF - 384.64 KB]
• Collection(s):
  National Institute for Occupational Safety and Health
• Main Document Checksum:
  urn:sha-512:85cc38baec77936693c1de6360b9ef84b073d8dcd253aa1ccfa215e0d11a57c9a7cb2906f8216cc31ea489a452534241255908031f598e04faf367be4fdd640c