Yıldırım Beyazıt University, Yenimahalle Education and Research Hospital, Otolaryngology Clinic, Ankara, Turkey.
Adana Science and Technology University, Faculty of Engineering and Natural Sciences, Department of Bioengineering, Adana, Turkey.
Braz J Otorhinolaryngol. 2018 Sep-Oct;84(5):599-607. doi: 10.1016/j.bjorl.2017.07.004. Epub 2017 Aug 1.
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.
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.
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.
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).
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.
腺样体肥大是一种表现为腺样体组织慢性肿大的疾病，常见于儿科人群。Ugrp2 基因是分泌球蛋白超家族的一个成员，它编码一种低分子量的蛋白质，在呼吸道上皮细胞的分化中起作用。然而，关于 Ugrp2 基因遗传变异与腺样体肥大的关联知之甚少。
本研究旨在探讨 Ugrp2 基因单核苷酸多态性与腺样体肥大及其相关表型的关系。
共纳入 219 名儿童，包括 114 名腺样体肥大患者和 105 名无腺样体肥大的健康患者。通过 DNA 测序确定 Ugrp2 基因的基因型。
我们在 Ugrp2 基因中发现了四个单核苷酸多态性（IVS1-189G>A、IVS1-89T>G、c.201delC 和 IVS2-15G>A）。我们的基因型分析显示，与对照组相比，Ugrp2（IVS1-89T>G）TG 和（c.201delC）CdelC 基因型及其较小等位基因与腺样体肥大的风险显著增加相关（p=0.012、p=0.009、p=0.013 和 p=0.037）。此外，Ugrp2（GTdelCG、GTdelCA）单倍型与腺样体肥大显著相关（按 5' 至 3' 顺序排列的四个单核苷酸多态性；p=0.0001）。多态性-多态性相互作用分析表明，Ugrp2 基因的组合基因型对腺样体肥大有很强的相互作用，并增加了其诊断的可能性（p<0.0001）。此外，携带突变 Ugrp2（c.201delC）等位基因的二倍型与腺样体肥大伴哮喘和过敏的风险增加强烈相关（p=0.003 和 p=0.0007）。
Ugrp2 基因的一些单核苷酸多态性及其组合与腺样体肥大的风险增加有关。因此，我们试图强调与腺样体肥大及其相关临床表型相关的遗传因素的重要性。
