IL1A
interleukin 1 alpha
Normal Function
Health Conditions Related to Genetic Changes
Ankylosing spondylitis
Several variations (polymorphisms) in the IL1A gene have been found to influence the risk of ankylosing spondylitis. This condition is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Each of these variations changes a single protein building block (amino acid) in interleukin-1 alpha. It is not fully known 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.
More About This Health ConditionRelated Conditions
Ankylosing spondylitisIdiopathic inflammatory myopathyIntervertebral disc diseaseKeratoconusOther disorders
Health Conditions Related to Genetic Changes
Several variations (polymorphisms) in the IL1A gene have been found to influence the risk of ankylosing spondylitis. This condition is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Each of these variations changes a single protein building block (amino acid) in interleukin-1 alpha. It is not fully known 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.
MedlinePlus Genetics provides information about Idiopathic inflammatory myopathy
MedlinePlus Genetics provides information about Intervertebral disc disease
MedlinePlus Genetics provides information about Keratoconus
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.