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首页> 外文期刊>Brazilian Journal of Otorhinolaryngology >Association of Ugrp2 gene polymorphisms with adenoid hypertrophy in the pediatric population ☆
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Association of Ugrp2 gene polymorphisms with adenoid hypertrophy in the pediatric population ☆

机译：Ugrp2基因多态性与小儿腺样体肥大的关系☆

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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.
机译：简介：腺样体肥大是一种表现为腺样体组织慢性肿大的疾病。它经常在儿科人群中观察到。 Ugrp2基因是分泌球蛋白超家族的成员，编码一种低分子量蛋白质，在上呼吸道上皮细胞的分化中起作用。但是，关于Ugrp2遗传变异与腺样体肥大的关系知之甚少。目的：研究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。方法：本研究共纳入219名儿童，其中包括114例患有腺样体肥大的患者和105例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。结果：我们在Ugrp2基因中鉴定出四个单核苷酸多态性（IVS1-189G> A，IVS1-89T> G，c.201delC和IVS2-15G> A）。我们的基因型分析表明，与对照组相比，Ugrp2（IVS1-89T> G）TG和（c.201delC）CdelC基因型及其次要等位基因与腺样体肥大的风险显着增加相关（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着相关（四个单核苷酸多态性从5'到3'有序; p = 0.0001）。多态性-多态性相互作用分析表明，导致腺样体肥大的Ugrp2基因的联合基因型之间存在强相互作用，并且其诊断几率增加（p <0.0001）。此外，携带突变型Ugrp2（c.201delC）等位基因的双型与哮喘和过敏性腺样体肥大的风险增加密切相关（分别为p = 0.003和p = 0.0007）。结论：Ugrp2基因中的某些单核苷酸多态性及其组合与发生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相关的遗传因素及其相关临床表型的重要性。

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