Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Dean Liu
 + 456 word(s) 456 2020-12-15 07:57:20

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Liu, D. IL1A Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4170 (accessed on 25 April 2024).
Liu D. IL1A Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4170. Accessed April 25, 2024.
Liu, Dean. "IL1A Gene" Encyclopedia, https://encyclopedia.pub/entry/4170 (accessed April 25, 2024).
Liu, D. (2020, December 23). IL1A Gene. In Encyclopedia. https://encyclopedia.pub/entry/4170
Liu, Dean. "IL1A Gene." Encyclopedia. Web. 23 December, 2020.
IL1A Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/il1a

Interleukin 1 alpha

genes

1. Introduction

The IL1A gene provides instructions for making a protein called interleukin-1 alpha. Interleukins are a group of proteins that are made primarily in immune system cells. They are involved in cell-to-cell communication and have a wide variety of functions within the immune system. Interleukin-1 alpha is described as "pro-inflammatory" because it stimulates the activity of genes involved in inflammation and immunity. This protein plays a critical role in protecting the body from foreign invaders such as bacteria and viruses. It is also involved in bone resorption, the breakdown and removal of bone tissue that is no longer needed.

Interleukin-1 alpha is initially produced as a relatively long protein that is trapped within cells. Another protein, called calpain, cuts (cleaves) this precursor protein to create a shorter, mature version of interleukin-1 alpha. The shorter form of this protein is secreted by immune system cells to influence the functions of other cells.

2. Health Conditions Related to Genetic Changes

2.1. Ankylosing Spondylitis

Several variations (polymorphisms) in the IL1A gene have been found to influence the risk of ankylosing spondylitis. Each of these variations changes a single protein building block (amino acid) in interleukin-1 alpha. It is unclear how these variations alter the protein's function. Studies suggest that the effects of IL1A variations are probably related to the role of interleukin-1 alpha in promoting inflammation. Other genetic and environmental factors, many of which are unknown, also affect the chance of developing ankylosing spondylitis.

2.2. Other Disorders

Variations in the IL1A gene have been studied as potential risk factors for several other disorders associated with abnormal inflammation. These include chronic gum (periodontal) disease, a progressive bone infection known as chronic osteomyelitis, and an eye disease called open-angle glaucoma.

The most well-studied variation affecting the IL1A gene is a change in a single DNA building block (nucleotide) in a region of regulatory DNA near the start of the gene (written as IL1A-889 C>T). This variation affects the production of interleukin-1 alpha within cells. Researchers have also identified a second common variation in the IL1A gene, written as IL1A+4845 G>T, which changes a single nucleotide in the gene. This variation likely affects the sensitivity of interleukin-1 alpha to cleavage by calpain.

It is unclear how changes in the IL1A gene influence the risk of inflammatory disorders. Studies suggest that the effects of IL1A variations are probably related to the role of interleukin-1 alpha in promoting inflammation. Other genetic and environmental factors also likely affect the chance of developing these complex disorders.

3. Other Names for This Gene

  • hematopoietin-1

  • IL-1 alpha

  • IL-1A

  • IL1

  • IL1-ALPHA

  • IL1A_HUMAN

  • IL1F1

  • interleukin 1, alpha

  • Interleukin-1 alpha

  • preinterleukin 1 alpha

  • pro-interleukin-1-alpha

References

  1. Asensi V, Alvarez V, Valle E, Meana A, Fierer J, Coto E, Carton JA, MaradonaJA, Paz J, Dieguez MA, de la Fuente B, Moreno A, Rubio S, Tuya MJ, Sarasúa J,Llames S, Arribas JM. IL-1 alpha (-889) promoter polymorphism is a risk factorfor osteomyelitis. Am J Med Genet A. 2003 Jun 1;119A(2):132-6.
  2. Brionez TF, Reveille JD. The contribution of genes outside the majorhistocompatibility complex to susceptibility to ankylosing spondylitis. Curr OpinRheumatol. 2008 Jul;20(4):384-91. doi: 10.1097/BOR.0b013e32830460fe. Review.
  3. Dinarello CA. Biologic basis for interleukin-1 in disease. Blood. 1996 Mar15;87(6):2095-147. Review.
  4. Graves DT, Cochran D. The contribution of interleukin-1 and tumor necrosisfactor to periodontal tissue destruction. J Periodontol. 2003 Mar;74(3):391-401. Review.
  5. Kawaguchi Y, Tochimoto A, Hara M, Kawamoto M, Sugiura T, Saito S, Kamatani N. Contribution of single nucleotide polymorphisms of the IL1A gene to the cleavage of precursor IL-1alpha and its transcription activity. Immunogenetics. 2007Jun;59(6):441-8.
  6. Lee S, Temple S, Roberts S, Price P. Complex effects of IL1A polymorphism and calpain inhibitors on interleukin 1 alpha (IL-1 alpha) mRNA levels and secretion of IL-1 alpha protein. Tissue Antigens. 2008 Jul;72(1):67-71. doi:10.1111/j.1399-0039.2008.01052.x.
  7. Sims AM, Timms AE, Bruges-Armas J, Burgos-Vargas R, Chou CT, Doan T, DowlingA, Fialho RN, Gergely P, Gladman DD, Inman R, Kauppi M, Kaarela K, Laiho K,Maksymowych W, Pointon JJ, Rahman P, Reveille JD, Sorrentino R, Tuomilehto J,Vargas-Alarcon G, Wordsworth BP, Xu H, Brown MA; International Genetics ofAnkylosing Spondylitis. Prospective meta-analysis of interleukin 1 gene complexpolymorphisms confirms associations with ankylosing spondylitis. Ann Rheum Dis.2008 Sep;67(9):1305-9.
  8. Tsezou A, Poultsides L, Kostopoulou F, Zintzaras E, Satra M, Kitsiou-Tzeli S, Malizos KN. Influence of interleukin 1alpha (IL-1alpha), IL-4, and IL-6polymorphisms on genetic susceptibility to chronic osteomyelitis. Clin VaccineImmunol. 2008 Dec;15(12):1888-90. doi: 10.1128/CVI.00209-08.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Dean Liu
View Times: 244
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Feedback