title: Genetics of chronic rhinosinusitis: state of the field and directions forward.
abstract: The cause of chronic rhinosinusitis (CRS) remains unclear. Study of the genetic susceptibility to CRS might be a valuable strategy to understand the pathogenesis of this burdensome disorder. The purpose of this review is to critically evaluate the current literature regarding the genetics of CRS in a comprehensive fashion. The most promising findings from candidate gene studies include the cystic fibrosis transmembrane conductance regulator gene (CFTR), as well as genes involved in antigen presentation, innate and adaptive immune responses, tissue remodeling, and arachidonic acid metabolism. We also review the few hypothesis-independent genetic studies of CRS (ie, linkage analysis and pooling-based genome-wide association studies). Interpretation of the current literature is limited by challenges with study design, sparse replication, few functional correlates of associated polymorphisms, and inadequate examination of linkage disequilibrium or expression quantitative trait loci for reported associations. Given the relationship of CRS to other airway disorders with well-characterized genetic components (eg, asthma), study of the genetics of CRS deserves increased attention and investment, including the organization of large, detailed, and collaborative studies to advance knowledge of the mechanisms that underlie this disorder.
authors.affiliation: Division of Allergy-Immunology, Northwestern University Feinberg School of Medicine, Chicago, IL 60637, USA.
authors.forename: Joy
authors.initials: J
authors.lastname: Hsu
authors.forename: Pedro C
authors.initials: PC
authors.lastname: Avila
authors.forename: Robert C
authors.initials: RC
authors.lastname: Kern
authors.forename: M Geoffrey
authors.initials: MG
authors.lastname: Hayes
authors.forename: Robert P
authors.initials: RP
authors.lastname: Schleimer
authors.forename: Jayant M
authors.initials: JM
authors.lastname: Pinto
mesh_terms: D056704:Adaptive Immunity / Q000235:genetics; D017951:Antigen Presentation; D000941:Antigens / Q000235:genetics / Q000276:immunology; D016718:Arachidonic Acid / Q000235:genetics / Q000378:metabolism; D002908:Chronic Disease; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000276:immunology; D005786:Gene Expression Regulation; D008040:Genetic Linkage / Q000276:immunology; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics* / Q000276:immunology; D012220:Rhinitis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D012852:Sinusitis / Q000235:genetics* / Q000276:immunology / Q000473:pathology
chemical_list: D000941:Antigens; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D016718:Arachidonic Acid
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