Genetic Background of the Rhinologic Diseases
Rhinologic diseases have a very high prevalence worldwide. It is known now that many rhinologic diseases have a strong genetic background. Some formidable challenges still remain for these diseases. However, research in the field of genetics has made much
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Mehmet Gunduz, Eyyup Uctepe, and Esra Gunduz
Keywords
Rhinologic diseases • Epigenetic • Allergic rhinitis • Cystic fibrosis • Vasomotor rhinitis • Nasal polyps
Core Messages
• It is expected that the prevalence of allergic rhinitis in the Western world will reach 50 % within the next 15 years. • Exposure early in childhood to microbes and infections leads to modification of the immune system, a reduced risk of IgE sensitization and a decreased risk of AR throughout life. • People who have persistent nonallergic rhinitis based on allergy skin test and
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M. Gunduz, MD, PhD (*) Departments of Otolaryngology Head and Neck Surgery, Faculty of Medicine, Turgut Ozal University Hospital, Alparslan Turkes Cad. No. 57 Emek, Ankara 06510, Turkey Department of Medical Genetics, Faculty of Medicine, Turgut Ozal University Hospital, Alparslan Turkes Cad. No.57 Emek, Ankara 06510, Turkey e-mail: [email protected] E. Uctepe, MD • E. Gunduz, DMD, PhD Department of Medical Genetics, Faculty of Medicine, Turgut Ozal University Hospital, Alparslan Turkes Cad. No.57 Emek, Ankara 06510, Turkey
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serum-specific IgE test result might have a localized form of allergic rhinitis. Information on the genetics of allergic diseases is valuable not only for analyzing the molecular basis of allergic diseases but also for investigating new drugs. Environmental effects on various genetic variants as well as epigenetics determine the fate of chronic nasal diseases. CFTR genotype affects progression of airway obstruction in CF. The studies demonstrated a role of various modifier genes such as ADIPOR2, EDNRA, IFRD1, IL-8, MBL2, TCF7L2, MSRA, SERPINA1, and TGF-b1 in CF for pathologies of pulmonary function, liver disease, intestinal obstruction, diabetes, and infection. Alleles in the promoter (−509) and first exon (codon 10) of TGF-b1 are correlated with worse lung function. ΔF508 homozygosity was associated with clinical severity of paranasal sinus diseases and with the presence of polyps on endoscopy.
T.M. Önerci (ed.), Nasal Physiology and Pathophysiology of Nasal Disorders, DOI 10.1007/978-3-642-37250-6_32, © Springer-Verlag Berlin Heidelberg 2013
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Introduction
Rhinologic diseases are very commonly seen pathologies all over the world. They affect millions of people and cause huge social and economic burdens. In this chapter, the genetic origin of the main rhinologic diseases is discussed. These are allergic rhinitis, chronic sinusitis, vasomotor rhinitis, cystic fibrosis, and nasal polyps.
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effort that consists of millions of beating cilia to direct any mucus or particles toward the ostia of the sinus. This process is quite prone to obstruction during swelling or inflammation of the nasal mucosa. Therefore, it causes a decrease in ciliary beat frequency and results in poor drainage from the sinus ostia (Chen B et al. 2006). This situation leads to stagnation of sinus secretions and a decrease of oxygen level in the sinus, subsequently reducing mucociliary clearance and nitric
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