Genetics of chronic rhinosinusitis: State of the field and directions forward

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

卷:131

Article

Hsu, Joy¹  Avila, Pedro C.¹  Kern, Robert C.²  Hayes, M. Geoffrey^3,4,5  Schleimer, Robert P.¹  Pinto, Jayant M.⁶ 

[1] Northwestern Univ, Feinberg Sch Med, Div Allergy Immunol, Chicago, IL 60611 USA

[2] Northwestern Univ, Feinberg Sch Med, Dept Otolaryngol Head & Neck Surg, Chicago, IL 60611 USA

[3] Northwestern Univ, Feinberg Sch Med, Div Endocrinol Metab & Mol Med, Chicago, IL 60611 USA

[4] Northwestern Univ, Feinberg Sch Med, Ctr Genet Med, Chicago, IL 60611 USA

[5] Northwestern Univ, Dept Anthropol, Chicago, IL 60611 USA

[6] Univ Chicago, Pritzker Sch Med, Dept Surg, Sect Otolaryngol Head & Neck Surg, Chicago, IL 60637 USA

关键词: Genetics;    genome;    variation;    chronic rhinosinusitis;    nasal polyposis;    single nucleotide polymorphism;    polymorphism;    candidate gene;    linkage;    genome wide association study;    susceptibility;    sinusitis;   

DOI  :  10.1016/j.jaci.2013.01.028

来源: Elsevier

【 摘 要 】

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. (J Allergy Clin Immunol 2013; 131: 977-93.)

【 授权许可】

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