Interleukin 1 gene polymorphism and susceptibility to disease

Summary The Interleukin 1 (IL‐1) family plays a central role in the generation and regulation of inflammatory responses, in both innate and adaptive immunity. Although the IL‐1 molecules are traditionally considered to be classical proinflammatory cytokines, their functions are not restricted to inflammation, and they have also been shown to play a key role in a wide range of additional physiological and pathological functions, including learning modulation, sleep, pregnancy, depression, appetite, hematopoiesis, metabolism, and many others. Since their effect as cytokines and regulators of inflammation is so pleiotropic, any shift of the biological balance between agonistic and antagonistic signals has the potential to cause disease. Here, we consider the genetic influence of interleukin‐1 gene polymorphism in the context of susceptibility to human diseases. We review known single nucleotide polymorphisms (SNP) of IL‐1 genes linked to human diseases, and suggest how exploring biological effects of IL‐1 gene cluster polymorphism may lead to new directions in understanding and diagnostic of disease and effective treatment.