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Association of Ugrp2 gene polymorphisms with adenoid hypertrophy in the pediatric population
Mahmut Huntürk Atilla1, Sibel Özdaş2, Talih Özdaş1
1Yıldırım Beyazıt University, Yenimahalle Education and Research Hospital, Otolaryngology Clinic, Ankara, Turkey.
Insights
Genetic variations in the Ugrp2 gene are linked to an increased risk of adenoid hypertrophy in children. Specific Ugrp2 gene polymorphisms and their combinations significantly contribute to the development of this condition.
Area of Science:
- Genetics
- Pediatrics
- Immunology
Background:
- Adenoid hypertrophy, a common pediatric condition, involves chronic enlargement of adenoid tissues.
- The Ugrp2 gene, involved in upper airway epithelial cell differentiation, has an unclear role in adenoid hypertrophy.
- Limited research exists on the association between Ugrp2 genetic variations and adenoid hypertrophy.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in the Ugrp2 gene and adenoid hypertrophy.
- To explore the relationship between Ugrp2 gene variations and related clinical phenotypes of adenoid hypertrophy.
Main Methods:
- A cohort of 219 children (114 with adenoid hypertrophy, 105 controls) was studied.
- DNA sequencing was employed to determine Ugrp2 gene genotypes.
- Statistical analyses, including haplotype and diplotype analyses, were performed.
Main Results:
- Four Ugrp2 SNPs (IVS1-189G>A, IVS1-89T>G, c.201delC, IVS2-15G>A) were identified.
- Specific Ugrp2 genotypes (TG, CdelC) and minor alleles showed increased risk for adenoid hypertrophy (p<0.05).
- Ugrp2 haplotypes (GTdelCG, GTdelCA) and combined genotypes demonstrated significant associations (p<0.0001). Diplotypes with the c.201delC allele correlated with increased risk of adenoid hypertrophy with asthma and allergies (p<0.007).
Conclusions:
- Certain Ugrp2 gene single nucleotide polymorphisms and their combinations are associated with an elevated risk of adenoid hypertrophy.
- Genetic factors play a significant role in the pathogenesis of adenoid hypertrophy and its clinical manifestations.
- This study highlights the importance of investigating genetic predispositions for adenoid hypertrophy.
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.
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