Full Name: Interleukin 1 Alpha
Genomic Location: Chromosome 2:112,773,915-112,785,394
Protein Size: 271 amino acids
Produced by activated macrophages, IL-1 stimulates thymocyte proliferation by inducing IL-2 release, B-cell maturation and proliferation, and fibroblast growth factor activity. IL-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells.
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease.
- rs1800587 is linked to IL1A, it is located in the 5’-UTR region.
- Population frequencies are approximately 69% for the reference allele (C) and 31% for the alternate allele (T).
- Studies suggest the T allele is associated with increased cognition in the elderly and reduced risk for obesity when exercising frequently and following a healthy diet.