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Chapter-25 Genetic Basis of Rhinosinusitis

BOOK TITLE: Sataloff’s Comprehensive Textbook of Otolaryngology: Head & Neck Surgery (Rhinology/Allergy and Immunology) -Volume 2

Author
1. Shargorodsky Josef
2. Lane Andrew P
ISBN
9789351524564
DOI
10.5005/jp/books/12714_26
Edition
1/e
Publishing Year
2016
Pages
14
Author Affiliations
1. Coastal Ear, Nose and Throat, Jersey Shore University Medical Center, Neptune City, New Jersey, USA, Jersey Shore University Medical Center, Neptune, New Jersey, USA
2. Johns Hopkins School of Medicine, Baltimore, Maryland, USA
Chapter keywords
nasal endoscopy, physiologic causes, mucosal inflammation, epidemiologic studies, inheritance patterns, research techniques, genetic mechanisms, polymorphisms, nucleotide variation, microarray technology, respiratory epithelium, ataxia telangiectasia, multifactorial diseases, phenotypic misclassification, pathophysiology, glucocorticoids, homozygotes, autosomal recessive pattern

Abstract

This chapter discusses genetic basis of rhinosinusitis, where chronic rhinosinusitis (CRS) consists of a set of symptoms associated with persistent nasal and paranasal sinus mucosal inflammation. The symptoms and processes of CRS frequently coincide with those of asthma and allergic rhinitis, suggesting a shared genetic underpinning. Current laboratory methods for studying sinus disease include real-time polymerase chain reaction, pithelial cell culture, flow cytometry, genomics or single-nucleotide polymorphism detection, microarrays, and genetic animal models. The recent developments in genome sequencing have allowed for evaluation of associations between genetic polymorphisms and chronic disease. Computer-enhanced laser detection then assists with quantification of the hybridization. The DNA microarray studies have identified multiple potentially causative genes within the spectrum of CRS. Several genetic syndromes have CRS as a common clinical manifestation. Young syndrome, also known as sinusitis-infertility syndrome or azoospermia sinopulmonary syndrome is a rare condition composed of bronchiectasis, rhinosinusitis, and reduced fertility.

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