Microsatellite DNA Instability in Nasal Polyposis

作者：Karatzanis Alexander D^*; Tzortzaki Eleni; Samara Katerina D; Neofytou Eirini; Zenk Johannes; Iro Heinrich; Siafakas Nikolaos; Velegrakis George A

来源：Laryngoscope, 2009, 119(4): 751-756.

DOI：10.1002/lary.20113

• Loss of heterozygosity
• microsatellite instability
• nasal polyps
• somatic mutations

Objective: Genetic alterations, such as microsatellite instability (MSI) and loss of heterozygosity (LOH), have been detected in various inflammatory diseases, providing evidence that acquired somatic mutations might play a role in the aetiopathogenesis of chronic inflammatory conditions. The aim of this study is to assess the presence of MSI and/or LOH in nasal cytology of patients with nasal polyps.
Study Design: Prospective case-controlled basic science experiment utilizing human blood and human nasal brush samples.
Methods: Nasal brush samples and peripheral blood from 12 patients with nasal polyps were analyzed. DNA was extracted and analyzed for MSI and LOH using the following microsatellite markers: D2S2113, D6S344, D6S1002, D11S1253, D11S480, USAT24G1, and D13S273, harboring potential susceptibility genes for nasal polyposis. Microsatellite DNA analysis was also performed in 7 control subjects.
Results: MSI or LOH were revealed in 3 specimens of the nasal polyps group. Among these there were 2 cases of LOH, one for marker D11S1273 and one for D13S273, and one case of MSI in marker USAT24G1. Each one of these alterations was detected in a different patient. None of the control subjects exhibited any genetic alterations in the 7 markers tested.
Conclusions: This is the first time that microsatellite genetic alterations are reported in nasal disease. The presence of such alterations suggests that acquired genomic somatic mutations might play a role in the pathogenesis of nasal polyps.

• 出版日期2009-4