IL18R1 gene

The IL18R1 gene (IL18R1 stands for Interleukin 18 Receptor 1) is a protein-coding gene located on chromosome 2q12.1.

The protein encoded by the IL18R1 gene is a cytokine receptor that belongs to the interleukin-1 receptor family. This receptor specifically binds interleukin-18 (IL18) and is essential for IL18-mediated signal transduction. The receptor does not bind interleukin-1alpha or interleukin-1beta (Parnet P et al. 1996). Together with four other members of the interleukin-1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2) and IL1RL1, the IL18R1 gene forms a receptor gene cluster on chromosome 2q (Dale M et al. 1999). Alternatively spliced transcript variants encoding different isoforms were found for the IL18R1 gene.

Diseases associated with IL18R1 include Laron syndrome (a rare form of short stature caused by the body's inability to utilize growth hormone). Those affected are almost normal height at birth, but grow slowly from early childhood, resulting in a very short stature. Other characteristics of untreated Laron syndrome include reduced muscle strength and endurance, low blood sugar levels (hypoglycemia) in infancy, small genitalia and delayed puberty, thin and brittle hair and dental abnormalities. Many sufferers have a characteristic facial appearance, including a protruding forehead, a sunken bridge of the nose (saddle nose) and blue sclerae. Those affected have short limbs and small hands and feet compared to the size of their torso. Adults with this disease tend to be obese (Aguirre A et al. 1990). IL-18R1 polymorphisms and the risk of oesophageal cancer have not been clarified (Zhu J et al. 2016).

1. Aguirre A et al. (1990) High-affinity serum growth-hormone-binding protein, absent in Laron-type dwarfism, is diminished in heterozygous parents. Horm Res 34: 4-8.
2. Tominaga K et al. (2000) IL-12 synergizes with IL-18 or IL-1beta for IFN-gamma production from human T cells. Int Immunol 12:151-160.
3. Dale M et al. (1999) Interleukin-1 receptor cluster: gene organization of IL1R2, IL1R1, IL1RL2 (IL-1Rrrp2), IL1RL1 (T1/ST2), and IL18R1 (IL-1Rrp) on human chromosome 2q. Genomics 57: 177-179
4. Ding Y et al. (2023) Interleukin-1 receptor antagonist: a promising cytokine against human squamous cell carcinomas. Heliyon 28: e14960.
5. Parnet P et al. (1996) IL-1Rrp is a novel receptor-like molecule similar to the type I interleukin-1 receptor and its homologues T1/ST2 and IL-1R AcP. J Biol Chem 271: 3967-3970.
6. Torigoe K et al. (1997) Purification and characterization of the human interleukin-18 receptor. J Biol Chem 272: 25737-25742
7. Zhu J et al. (2016) Association of the interleukin-18 receptor 1 and interleukin-18 receptor accessory protein polymorphisms with the risk of esophageal cancer. Biomed Rep 4:227-235.