Polymorphisms in chronic rhinosinusitis with nasal polyps – a systematic review

Dinarte, Vanessa R. Pires; Santos, Anemari Ramos Dinarte dos; Araújo, Luíza Ferreira de; Reis, Mariah Guieiro Alves dos; Tamashiro, Edwin; Valera, Fabiana Cardoso Pereira; Júnior, Wilson Araújo da Silva; Anselmo‐Lima, Wilma Terezinha

doi:10.1016/j.bjorl.2017.03.002

Cited by 8 publications

(10 citation statements)

References 18 publications

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“…Although genetic background contributing to NP pathogenesis has been investigated, these studies show limited ability for detecting genetic markers due to the heterogeneity of the mixed populations. [5] Furthermore, large scale research data from genome-wide association studies (GWAS) for nasal polyposis is still missing. [5,14] Given the high prevalence and morbidity associated with NP, molec-ular genetic markers are required to better understand its' aetiology and develop novel therapeutic strategies.…”

Section: Discussionmentioning

confidence: 99%

“…It estimated to affect approximately 4% of the population worldwide. [3][4][5][6] Although its' aetiology remains elusive chronic infection, allergy, cystic fibrosis, and aspirin sensitivity seems to be associated with NP. [6] The most common symptoms of NP include nasal obstruction, postnasal drip, nasal discharge, facial pain and impairment of sense of smell.…”

Section: Introductionmentioning

confidence: 99%

“…[5] Findings imply that polymorphisms in several genes including MMP-9 [10] , LTC4S, NOS2A, PTGDR [11] , MET, COX-2 [12] , OSF-2 and LF [13] may also be associated with increased risk of developing nasal polyps. [5] However, these studies show limited ability in the detection of true genetic markers due to the heterogeneity of the mixed populations and/or concentration on populations from a small geographical region. [5] Furthermore, large scale research data from genome-wide association studies (GWAS) for nasal polyposis are still not available.…”

Section: Introductionmentioning

confidence: 99%

“…[5] However, these studies show limited ability in the detection of true genetic markers due to the heterogeneity of the mixed populations and/or concentration on populations from a small geographical region. [5] Furthermore, large scale research data from genome-wide association studies (GWAS) for nasal polyposis are still not available. [5,[10][11][12][13][14] Given the high prevalence and morbidity associated with NP, more research is required to better understand its' aetiology and develop novel therapeutic strategies.…”

Section: Introductionmentioning

confidence: 99%

“…[5,[10][11][12][13][14] Given the high prevalence and morbidity associated with NP, more research is required to better understand its' aetiology and develop novel therapeutic strategies. [5,6,[10][11][12][13][14][15] Previously, the association between NP and infections of DNA viruses such as Epstein-Barr virus and human herpes virus-6 infection was studied. [16,17] However, a possible link between Human Endogenous Retrovirus (HERV) and NP has not been investigated yet.…”

Section: Introductionmentioning

confidence: 99%

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IRAP-PCR As A Tool For Screening HERV Polymorphisms In Nasal Mucosal Swabs

et al. 2019

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Objective: Inter-retrotransposon polymorphism Polymerase Chain Reaction (IRAP-PCR) technique allows for detecting insertional polymorphisms via amplification of the DNA fragment between two retrotransposons in plant genomes. However, this method has not been reported to be used for analyzing human samples to date. Recently, Human Endogenous Retrovirus (HERV) polymorphisms gained interest due to their potential effect on pathophysiology of certain diseases. Nevertheless, the association between HERV polymorphisms and the risk for developing nasal polyposis (NP) has not been studied. In this study, we aimed to investigate whether or not IRAP-PCR could be performed in nasal swab samples for comparing HERV polymorphisms in different nasal mucosal samples.Methods: Nasal swab samples from 16 patients were used for DNA isolation. These DNA samples were used as templates for IRAP PCR of HERV-K6, HERV-K11, HERV-L1 and HERV-L2 and PCR products were analyzed by agarose gel electrophoresis.Results: Nasal swab samples yielded enough DNA material for successfully performing IRAP-PCR. We obtained specific banding patterns the three out of four HERV sequences tested in this study. No polymorphisms was detected between samples from different patients. Similarly, polymorphic bands was not detected between the polyps or nasal mucosal swab samples obtained from the same patient. Conclusion:We have, for the first time, shown that IRAP-PCR can be performed in nasal swabs. Our findings suggest that this technique can serve as an inexpensive and effective screening tool for investigating links between nasal mucosal diseases and HERV polymorphisms such as nasal polyposis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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IRAP-PCR As A Tool For Screening HERV Polymorphisms In Nasal Mucosal Swabs

et al. 2019

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Pathogenesis of Nasal Polyposis: Current Trends

Goulioumis

Gkorpa²,

Danielides

2022

Indian J Otolaryngol Head Neck Surg

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Chronic Rhinosinusitis (CRS) is characterized by edema of the sub-epithelial layers, but, only specific types of CRS are developing polyps. Nasal polyposis may develop under different pathogenetic mechanisms rendering the typical macroscopic classification of CRS, with or without nasal polyps, rather deficient. Currently, we approach nasal polyposis, in terms of diagnosis and treatment, according to its endotype, which means that we focus on the specific cells and cytokines that are participating in its pathogenesis. It appears that the molecular procedures that contribute to polyp formation, initiating with a Th-2 response of the adaptive immune system, are local phenomena occurring in the sub-epithelial layers of the mucosa. Several hypotheses are trying to approach the etiology that drives the immune response towards Th-2 type. Extrinsic factors, like fungi, Staphylococcus superantigens, biofilms, and altered microbiome can contribute to a modified and intense local reaction of the immune system. Some hypotheses based on intrinsic factors like the elimination of Treg lymphocytes, low local vitamin-D levels, high levels of leukotrienes, epithelial to mesenchymal transition (EMT) induced by hypoxia, and altered levels of NO, add pieces to the puzzle of the pathogenesis of nasal polyposis. Currently, the most complete theory is that of epithelial immune barrier dysfunction. Intrinsic and extrinsic conditions can damage the epithelial barrier rendering sub-epithelial layers more vulnerable to invasion by pathogens that trigger a Th-2 response of the adaptive immune system. Th2 cytokines, subsequently, induce the accumulation of eosinophils and IgE together with the remodeling of the stroma in the sub-epithelial layers leading, eventually, to the formation of nasal polyps.

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Glutathione S-transferase gene polymorphisms and risk of nasal or colorectal polyposis

Zhang

Lin

et al. 2019

Bioscience Reports

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We observed inconsistent conclusions regarding the genetic role of glutathione S-transferase gene polymorphisms, including glutathione S-transferase M1 (GSTM1), glutathione S-transferase T1 (GSTT1) present/null, and glutathione S-transferase pi (GSTP1) Ile105Val polymorphisms, in the susceptibility to nasal or colorectal polyposis (NP or CP). Thus, we aimed to perform a meta-analysis to comprehensively evaluate this association by applying Stata/SE software. After the heterogeneity assumption, Mantel–Haenszel statistics were used to obtain the odds ratio (OR), 95% confidence interval (95% CI) and P-value of the association test (PA). We obtained a total of 235 articles by searching online databases. After screening, ten eligible case–control studies were finally enrolled in our meta-analysis. For the meta-analysis of the GSTT1 gene under present versus null, we observed a decreased risk of NP [OR = 0.65; PA=0.018], but not CP. In addition, we did not detect any evident association between the GSTM1 present/null polymorphism and NP or CP risk. For the meta-analysis of the GSTP1 Ile105Val polymorphism, compared with controls, an increased risk of NP cases was detected under the models of Val versus Ile (OR = 1.36; PA=0.027), Ile/Val versus Ile/Ile (OR = 1.70; PA=0.011) and Ile/Val+Val/Val versus Ile/Ile (OR = 1.65; PA=0.010). In conclusion, the null genotype of the GSTT1 polymorphism may be linked to an increased susceptibility to NP, whereas the Ile/Val genotype of the GSTP1 Ile105Val polymorphism may be associated with a decreased risk of NP.

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Polymorphisms in chronic rhinosinusitis with nasal polyps – a systematic review

Abstract: Genetic studies on chronic rhinosinusitis with nasal polyps are promising and may offer insights into its pathophysiology, which is likely affected by multiple genetic factors.

Cited by 8 publications

References 18 publications

IRAP-PCR As A Tool For Screening HERV Polymorphisms In Nasal Mucosal Swabs

IRAP-PCR As A Tool For Screening HERV Polymorphisms In Nasal Mucosal Swabs

Pathogenesis of Nasal Polyposis: Current Trends

Glutathione S-transferase gene polymorphisms and risk of nasal or colorectal polyposis

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