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    Association of Ugrp2 gene polymorphisms with adenoid hypertrophy in the pediatric population
    (Assoc Brasileira Otorrinolaringologia & Cirurgia Cervicofacial, 2018) Atilla, Mahmut Hunturk; Ozdas, Sibel; Ozdas, Talih; Bastimur, Sibel; Muz, Sami Engin; Oz, Isilay; Kurt, Kenan
    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. (C) 2017 Associacao Brasileira de Otorrinolaringologia e Cirurgia C ervico-Facial. Published by Elsevier Editora Ltda.
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    Nazal polipozis’e eşlik eden IL5 (-746), IL6 (-174) ve IL18 (-607) gen polimorfizimleri
    (2021) Atilla, Mahmut Huntürk; Özdaş, Sibel; Baştimur, Sibel; Özdaş, Talih; Muz, Sami Engin; Oz, Isilay; Canatar, İpek Canatar İpek
    GİRİŞ ve AMAÇ: Nazal polipozis (NP), nazal mukozanın en sık karşılaşılan patolojik değişikliği olup, mukozal inflamasyon ile karakterize iyi huylu kronik bir hastalığıdır. Bu çalışmada, NP hastalarında yaygın olarak gözlenen İnterlökin (IL)5, IL6 ve IL18 gen promotor bölgesinde yer alan sırasıyla -746 C/T, -174 G/C ve -607 C/A tek nükleotidlik polimorfizmleri (SNPs) ile NP arasındaki ilişkiyi araştırmaktır. YÖNTEM ve GEREÇLER: Çalışmaya 87 NP’li hasta ve 76 kontrol olmak üzere 163 hasta dahil edilerek, polimorfizmler Snap-Shot ile genotiplendirildi. SNP'lerin bağlantı dengesizliğini değerlendirmek, allel, genotip ve haplotip frekanslarının analizi için bir lojistik regresyon modeli olan SNPStats kullanıldı. MDR ile polimorfizmlerin birbiriyle ve klinik değişkenlerle arasındaki etkileşimler değerlendirildi. BULGULAR: Çalışmamızda, IL5 ve IL18 SNP’lerinin varlığı, majör allellerinin ve CC genotiplerinin frekansı NP'de yüksekti (sırasıyla, P< 0.001ve P< 0.001; P< 0.001 ve P< 0.001; P= 0.023 ve P= 0.006). Ayrıca IL18 SNP, aspirin intoleransı ve astımatik NP’lilerde daha sık gözlendi (P= 0.013 ve P= 0.045). Bununla birlikte IL5-IL6-IL18 CGC haplotipinin frekansı NP’li hasta grubunda yüksekti (P< 0.0001). MDR analizi ile tespit edilen en iyi tek-lokus modeline göre IL18 CC genotipinin, iki-lokus modeline göre IL5_IL18’in majör allelli içeren diplotiplerinin artmış-NP riski ile ilişkili olduğu bulundu (P= 0.006, P< 0.0001). IL5 genotiplerinin ve IL5_IL6 diplotiplerininin NP'de risk paterni IL18’ün genotipine bağlı olduğu gözlendi (P< 0.0001). Ayrıca NP-pozitif aile öyküsüne sahip bireylerin 16-kat artmış NP riski taşıdığı gözlenmiştir (P= 0.0004). TARTIŞMA ve SONUÇ: Sonuç olarak, çalışmamız IL5 (-746) ve IL18 (-607) polimorfizmlerinin nazal polipozis için predispozan faktörler olduğunu göstermiştir. Nazal polipoziste IL5 (-746) ve IL18 (-607) SNP’lerinin gen aktivitesi üzerindeki sonuçlarını araştıran ileri fonksiyonel çalışmalara ihtiyaç vardır.
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    Öğe
    Protective Effect of 5-HTTLPR (S) and VNTR (10) Allele Combinationsof5-HTT Gene Against Adenotonsillary Hypertrophy
    (2021) Muz, Sami Engin; Özdaş, Sibel; Özdaş, Talih; Atilla, Mahmut Huntürk; Baştimur, Sibel; Öz, Işılay; Canatar, İpek
    INTRODUCTION: Serotonin transporter protein which is coded by 5HTT gene is responsible forpresynaptic reuptake of serotonin. In this study, we investigated the relationship between polymorphismsin the promoter region (5-HTTLPR) and in the second intron (VNTR) in the 5-HTTgene and adenotonsillarhypertrophy (ATH) in pediatric cases. METHODS: Genotyped of the 5-HTT gene promotor 5-HTTLPR and intronic VNTR of in 197 childrenwere analyzed using Snap Shot, Multifactor Dimensionality Reduction (MDR) software and carried out toassess the interactions among two polymorphisms and phenotype. RESULTS: A total of 119 children with ATH (48 girls, 71 boys age range: 3-10 years; mean age: 5.38years) and 78 healthy children (27 girls, 51 boys, age range: 4-13 years; mean age: 6.76 years) wereincluded in this study. The frequencies of the genotype in all of inheritance models of the 5-HTTLPR andthe VNTR (10) allele showed no significant differences between ATH patient and healthy controls (for allP> 0.05). However, frequency of the 5-HTTLPR (S) allele and VNTR_5-HTTLPR (10/S) haplotype and(10/10+S/S) diplotype were significantly higher in the control group compared to ATH cases (P= 0.048,P= 0.041, P= 0.13). DISCUSSION AND CONCLUSION: In this study, we observed that S/S genotype, 10/S haplotype and10/10 + S/S diplotype of 5-HTT gene could have protective effect against ATH.
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    Öğe
    Significant association between SCGB1D4 gene polymorphisms and susceptibility to adenoid hypertrophy in a pediatric population
    (Tubitak Scientific & Technological Research Council Turkey, 2017) Ozdas, Talih; Ozdas, Sibel; Babademez, Mehmet Ali; Muz, Sami Engin; Atilla, M. Hunturk; Bastimur, Sibel; Izbirak, Afife
    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.