Journal Article

Influence of Interleukin-1 Receptor Antagonist Gene Polymorphism on Disease

Steven S. Witkin, Stefan Gerber and William J. Ledger

in Clinical Infectious Diseases

Published on behalf of Infectious Diseases Society of America

Volume 34, issue 2, pages 204-209
Published in print January 2002 | ISSN: 1058-4838
Published online January 2002 | e-ISSN: 1537-6591 | DOI: http://dx.doi.org/10.1086/338261
Influence of Interleukin-1 Receptor Antagonist Gene Polymorphism on Disease

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Interleukin-1 receptor antagonist (IL-1RA) is a naturally occurring competitive inhibitor of interleukin-1 (IL-1)–induced proinflammatory activity. The IL-1RA gene is polymorphic, resulting in quantitative differences in both IL-1RA and IL-1β production. Persons homozygous for allele 2 of the IL-1RA gene (IL1RN*2) have a more prolonged and more severe proinflammatory immune response than persons with other IL-1RA genotypes. Thus, being IL1RN*2 homozygous might be beneficial when combating infectious agents or malignantly transformed cells, but it might be detrimental for those with chronic inflammatory conditions or who are pregnant. The IL1RN*2 phenotype is associated with ulcerative colitis and Crohn's disease, lupus erythematosus, vulvar vestibulitis, and possibly with osteoporosis and coronary artery disease. IL1RN*2 homozygosity may also be associated with recurrent spontaneous abortion, preterm birth, and severity of preeclampsia. Conversely, there are negative associations between IL1RN*2 homozygosity and vaginal colonization with mycoplasmas, infection with human cytomegalovirus and Epstein-Barr virus, human immunodeficiency virus proliferation, and the occurrence of ovarian cancer.

Journal Article.  4330 words.  Illustrated.

Subjects: Infectious Diseases ; Immunology ; Public Health and Epidemiology ; Microbiology

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