title: Genetic variation in pattern recognition receptors: functional consequences and susceptibility to infectious disease.
abstract: Cells of the innate immune system are equipped with surface and cytoplasmic receptors for microorganisms called pattern recognition receptors (PRRs). PRRs recognize specific pathogen-associated molecular patterns and as such are crucial for the activation of the immune system. Currently, five different classes of PRRs have been described: Toll-like receptors, C-type lectin receptors, nucleotide-binding oligomerization domain-like receptors, retinoic acid-inducible gene I-like receptors and absent in melanoma 2-like receptors. Following their discovery, many sequence variants in PRR genes have been uncovered and shown to be implicated in human infectious diseases. In this review, we will discuss the effect of genetic variation in PRRs and their signaling pathways on susceptibility to infectious diseases in humans.
authors.affiliation: Department of Internal Medicine, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: Martin
authors.initials: M
authors.lastname: Jaeger
authors.affiliation: Department of Internal Medicine, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands.|Department of Medical Microbiology & Infectious Diseases, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.|Faculty of Medicine, Research group of Immunology & Biochemistry, Hasselt University, Hasselt, Belgium.
authors.forename: Mark H T
authors.initials: MH
authors.lastname: Stappers
authors.affiliation: Department of Internal Medicine, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: Leo A B
authors.initials: LA
authors.lastname: Joosten
authors.affiliation: Department of Internal Medicine, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands.|Department of Medical Microbiology & Infectious Diseases, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.|Faculty of Medicine, Research group of Immunology & Biochemistry, Hasselt University, Hasselt, Belgium.
authors.forename: Inge C
authors.initials: IC
authors.lastname: Gyssens
authors.affiliation: Department of Internal Medicine, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: Mihai G
authors.initials: MG
authors.lastname: Netea
mesh_terms: D003141:Communicable Diseases / Q000235:genetics* / Q000276:immunology*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007113:Immunity, Innate; D051192:Receptors, Pattern Recognition / Q000235:genetics*; D015398:Signal Transduction
chemical_list: D051192:Receptors, Pattern Recognition
keywords: disease susceptibility; genetic variation; infectious disease; pattern recognition; polymorphism; receptors; single nucleotide