Human IL-1 Receptor Antagonist
Genetic variation in Interleukin-1 Receptor Antagonist (IL-1RN) is associated with susceptibility to microvascular complications of diabetes type 4 (MVCD4). These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. Defects in IL1RN are the cause of interleukin 1 receptor antagonist deficiency (DIRA), also known as deficiency of interleukin 1 receptor antagonist. DIRA is a rare autosomal recessive genetic autoinflammatory disease that results in sterile multifocal osteomyelitis (bone inflammation in multiple places), periostitis (inflammation of the membrane surrounding the bones), and pustulosis (due to skin inflammation) from birth. IL-1RN is available for medicinal use under the name Kineret (Amgen). Recombinant IL-1RN comprises a 152 amino acid fragment (26-177) corresponding to the mature soluble IL-1RN protein and is expressed in E. coli with an amino-terminal hexahistidine tag.