Association of Ugrp2 gene polymorphisms with adenoid hypertrophy in the pediatric population / Associação de polimorfismos do gene Ugrp2 com hipertrofia de adenoide na população pediátrica

Abstract Introduction: Adenoid hypertrophy is a condition that presents itself as the chronic enlargement of adenoid tissues; it is frequently observed in the pediatric population. The Ugrp2 gene, a member of the secretoglobin superfamily, encodes a low-molecular weight protein that functions in the differentiation of upper airway epithelial cells. However, little is known about the association of Ugrp2 genetic variations with adenoid hypertrophy. Objective: The aim of this study is to investigate the association of single nucleotide polymorphisms in the Ugrp2 gene with adenoid hypertrophy and its related phenotypes. Methods: A total of 219 children, comprising 114 patients suffering from adenoid hypertrophy and 105 healthy patients without adenoid hypertrophy, were enrolled in this study. Genotypes of the Ugrp2 gene were determined by DNA sequencing. Results: We identified four single nucleotide polymorphisms (IVS1-189G>A, IVS1-89T>G, c.201delC, and IVS2-15G>A) in the Ugrp2 gene. Our genotype analysis showed that the Ugrp2 (IVS1-89T>G) TG and (c.201delC) CdelC genotypes and their minor alleles were associated with a considerable increase in the risk of adenoid hypertrophy compared with the controls (p = 0.012, p = 0.009, p = 0.013, and p = 0.037, respectively). Furthermore, Ugrp2 (GTdelCG, GTdelCA) haplotypes were significantly associated with adenoid hypertrophy (four single nucleotide polymorphisms ordered from 5′ to 3′; p = 0.0001). Polymorfism-Polymorfism interaction analysis indicated a strong interaction between combined genotypes of the Ugrp2 gene contributing to adenoid hypertrophy, as well as an increased chance of its diagnosis (p < 0.0001). In addition, diplotypes carrying the mutant Ugrp2 (c.201delC) allele were strongly associated with an increased risk of adenoid hypertrophy with asthma and with allergies (p = 0.003 and p = 0.0007, respectively). Conclusion: Some single nucleotide polymorphisms and their combinations in the Ugrp2 gene are associated with an increased risk of developing adenoid hypertrophy. Therefore, we tried to underline the importance of genetic factors associated with adenoid hypertrophy and its related clinical phenotypes.

Resumo Introdução: A adenoide ou hipertrofia de tonsila faríngea é uma condição que se apresenta como o aumento crônico de tecidos linfoides na rinofaringe e é frequentemente observada na população pediátrica. O gene Ugrp2, um membro da superfamília da secretoglobina, codifica uma proteína de baixo peso molecular que funciona na diferenciação das células epiteliais das vias aéreas superiores. No entanto, pouco se sabe sobre a associação de variações genéticas do Ugrp2 com hipertrofia de tonsila faríngea. Objetivo: Investigar a associação de polimorfismos de nucleotídeos únicos no gene Ugrp2 com hipertrofia de tonsila faríngea e seus fenótipos relacionados. Método: Foram incluídos no estudo 219 crianças, 114 pacientes com hipertrofia de tonsila faríngea e 105 saudáveis. Os genótipos do gene Ugrp2 foram determinados por sequenciamento de DNA. Resultados: Identificamos quatro polimorfismos de nucleotídeo único (IVS1-189G>A, IVS1-89T>G, c.201delC, e IVS2-15G>A) no gene Ugrp2. Nossa análise genotípica mostrou que os genótipos Ugrp2 (IVS1-89T>G) TG e (c.201delC) CdelC e seus alelos menores foram associados a um aumento considerável no risco de HA em comparação com os controles (p = 0,012, p = 0,009, p = 0,013 e p = 0,037, respectivamente). Além disso, os haplótipos Ugrp2 (GTdelCG, GTdelCA) foram significativamente associados com hipertrofia de tonsila faríngea (quatro polimorfismos de nucleot' ordenados de 5' a 3'; p = 0,0001). A análise de interação polimorfismo-polimorfismo indicou uma forte interação entre genótipos combinados do gene Ugrp2 que contribuiu para hipertrofia de tonsila faríngea, bem como uma chance maior de seu diagnóstico (p < 0,0001). Além disso, os diplótipos que transportam o alelo mutante Ugrp2 (c.201delC) foram fortemente associados a um risco aumentado de hipertrofia de tonsila faríngea com asma e com alergias (p = 0,003 e p = 0,0007, respectivamente). Conclusão: Alguns polimorfismos de nucleotídeo único e suas combinações no gene Ugrp2 estão associados a um risco aumentado de desenvolver hipertrofia de tonsila faríngea. Portanto, tentamos enfatizar a importância dos fatores genéticos e fenótipos clínicos associados a essa hipertrofia.

Association of Ugrp2 gene polymorphisms with adenoid hypertrophy in the pediatric population.

INTRODUCTION: Adenoid hypertrophy is a condition that presents itself as the chronic enlargement of adenoid tissues; it is frequently observed in the pediatric population. The Ugrp2 gene, a member of the secretoglobin superfamily, encodes a low-molecular weight protein that functions in the differentiation of upper airway epithelial cells. However, little is known about the association of Ugrp2 genetic variations with adenoid hypertrophy. OBJECTIVE: The aim of this study is to investigate the association of single nucleotide polymorphisms in the Ugrp2 gene with adenoid hypertrophy and its related phenotypes. METHODS: A total of 219 children, comprising 114 patients suffering from adenoid hypertrophy and 105 healthy patients without adenoid hypertrophy, were enrolled in this study. Genotypes of the Ugrp2 gene were determined by DNA sequencing. RESULTS: We identified four single nucleotide polymorphisms (IVS1-189G>A, IVS1-89T>G, c.201delC, and IVS2-15G>A) in the Ugrp2 gene. Our genotype analysis showed that the Ugrp2 (IVS1-89T>G) TG and (c.201delC) CdelC genotypes and their minor alleles were associated with a considerable increase in the risk of adenoid hypertrophy compared with the controls (p=0.012, p=0.009, p=0.013, and p=0.037, respectively). Furthermore, Ugrp2 (GTdelCG, GTdelCA) haplotypes were significantly associated with adenoid hypertrophy (four single nucleotide polymorphisms ordered from 5' to 3'; p=0.0001). Polymorfism-Polymorfism interaction analysis indicated a strong interaction between combined genotypes of the Ugrp2 gene contributing to adenoid hypertrophy, as well as an increased chance of its diagnosis (p<0.0001). In addition, diplotypes carrying the mutant Ugrp2 (c.201delC) allele were strongly associated with an increased risk of adenoid hypertrophy with asthma and with allergies (p=0.003 and p=0.0007, respectively). CONCLUSION: Some single nucleotide polymorphisms and their combinations in the Ugrp2 gene are associated with an increased risk of developing adenoid hypertrophy. Therefore, we tried to underline the importance of genetic factors associated with adenoid hypertrophy and its related clinical phenotypes.

Significant association between SCGB1D4 gene polymorphisms and susceptibility to adenoid hypertrophy in a pediatric population.

BACKGROUND/AIM: Adenoid hypertrophy (AH) is chronic enlargement of the adenoid tissue. The pathophysiology of the disease is unclear. We analyzed SCGB1D4 gene polymorphisms in order to determine the effect of the variants or their genetic combinations on AH. MATERIALS AND METHODS: We genotyped the SCGB1D4 (IIS) gene in 167 participants (95 children with AH and 72 controls) by performing DNA sequencing in blood samples. RESULTS: We genotyped three single nucleotide polymorphisms (SNPs). In the analysis, we found that in the presence of those SNPs and the minor alleles of individual SNPs four haplotypes were associated with an increased risk of AH. In addition, those SNPs were significantly associated with asthma, allergy, sleep-disordered breathing, AH grade +4, and a high level of IgE. As indicated on multifactor dimensionality reduction analysis, single-locus (rs35328961), two-locus (rs35328961_rs56196602), and three-locus models (rs200327820_rs35328961_rs56196602) had the highest synergistic interaction effect on AH. The three-factor model was also significantly associated with some genotypes of rs35328961 and allergic-asthmatic AH. CONCLUSION: SNPs of SCGB1D4 and their combinations are associated with an increased risk for developing AH. We highlighted the importance of genetic factors on AH and AH-related clinical phenotypes.

Acantholytic squamous cell carcinoma of the maxilla: unusual location and aggressive behavior of a rare histologic variant.

Acantholytic squamous cell carcinoma (ASCC) of the mucosal membranes has been documented sporadically. The highly aggressive behavior of a mucosal ASCC arising in the oral cavity has been recently reported. To the best of our knowledge, only 1 autopsy case of maxillary ASCC previously has been reported in the literature. We present what we believe is only the second case of maxillary ASCC. Our goal is to emphasize the aggressive behavior of this tumor in order to add weight to the argument that the prognosis is poor.

[Management of laryngeal hemangioma in adults: a case report]. / Eriskinlerde larengeal hemanjiyoma yaklasim: Olgu sunumu.

Hemangiomas are the most common vascular tumors mostly (60%) seen in the head-neck region. Head-neck hemangiomas are seen frequently in the oral cavity, rarely in the larynx. Adult laryngeal hemangiomas are rare and often seen in the supraglottic region, therefore causing dysphagia/dysphonia. We presented two-cases with laryngeal hemangioma, discussed the diagnosis, treatment and follow-up of adult cavernous hemangiomas. A forty-one-year-old female patient applied to hospital with hoarseness and breathing difficulty lasting for three years. A cavernous hemangioma located on laryngeal surface of the epiglottis was excised through a transoral endoscopic approach. The patient had no symptoms after the operation but on the postoperative 34th month follow-up she was admitted to our clinic again because of difficulty during swallowing. Relapsed hemangioma was diagnosed and reoperated by open surgery (laryngofissure). After reoperation the patient had symptomatic relief in three months and videolaryngoscopic examination showed granulation tissue. The patient's regular follow-up was continued. A forty-year-old female other patient was applied to hospital with hoarseness and swallowing difficulty worsening in three months. Hemangioma located in the postcricoid area with extensive to hypopharynx-esophagus junction was diagnosed. The location of the lesion in imaging techniques was evaluated with the thoracic surgery and gastroenterology department and we decided not to do any operation and follow-up patient by considering the severity of symptoms, location of lesion and complications of operation.