Clinical Significance
A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer.
Mutations in the IL1RN gene results in a rare disease called deficiency of the interleukin-1–receptor antagonist (DIRA). Variants of the IL1RN gene is also associated with risk of schizophrenia. Elevated levels of IL1RN has been found in serum of schizophrenia patients.
An interleukin 1 receptor antagonist is used in the treatment of rheumatoid arthritis, an autoimmune disease in which IL-1 plays a key role. It is commercially produced as anakinra, which is a human recombinant form of IL-1RA. In terms of protein similarities, IL-1β is more closely related to IL-1RA than it is to IL- 1α. The amino acids that are identical between mature human IL-1α and mature IL-1β is 22% while it is 26% when comparing IL-1β to IL-1RA and only 18% when comparing IL-1α to IL-1RA.
Read more about this topic: Interleukin 1 Receptor Antagonist
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