title: Toll-like receptor polymorphisms and susceptibility to human disease.
abstract: Although several lines of evidence suggest that variation in human inflammation is genetically controlled, the genes which regulate these responses are largely unknown. TLRs (Toll-like receptors) mediate recognition of microbes, regulate activation of the innate immune response and influence the formation of adaptive immunity. Cellular and molecular studies over the past several years have identified a number of common TLR polymorphisms that modify the cellular immune response and production of cytokines in vitro. In addition, human genetic studies suggest that some of these polymorphisms are associated with susceptibility to a spectrum of diseases. In this review, we summarize studies of common TLR polymorphisms and how this work is beginning to illuminate the influence of human variation on inflammation and disease susceptibility.
authors.affiliation: Department of Medicine, University of Washington School of Medicine, 1959 NE Pacific St, Seattle, WA 98195, USA.
authors.forename: E Ann
authors.initials: EA
authors.lastname: Misch
authors.forename: Thomas R
authors.initials: TR
authors.lastname: Hawn
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology; D009894:Opportunistic Infections / Q000235:genetics; D011110:Polymorphism, Genetic; D015398:Signal Transduction / Q000276:immunology; D051193:Toll-Like Receptors / Q000235:genetics* / Q000276:immunology
chemical_list: D051193:Toll-Like Receptors