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Alergologia Polska - Polish Journal of Allergology
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4/2024
vol. 11
 
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abstract:
Original paper

Investigation of interleukin-4 (IL-4) and leukotriene C4 synthase (LTC4S) genes in patients with asthma by next-generation sequencing analysis

Muhammet Mesut Nezir Engin
1
,
Önder Kılıçaslan
2
,
Recep Eröz
3
,
Öner Özdemir
4
,
Ramazan Cahit Temizkan
5
,
Kenan Kocabay
6

  1. Private outpatient clinic of Child Follow-up Academy, Sakarya, Turkey
  2. Department of Pediatric Infectious Diseases, Istanbul Prof. Dr. Cemil Taşcıoğlu City Hospital, Istanbul, Turkey
  3. Department of Medical Biology and Genetics, Faculty of Medicine, Aksaray University, Aksaray, Turkey
  4. Department of Pediatric Allergy and Immunology, Faculty of Medicine, Sakarya University, Serdivan, Sakarya, Turkey
  5. Department of Pediatric Emergency Medicine, School of Medicine, Düzce University, Düzce, Turkey
  6. Department of Child Health and Diseases, School of Medicine, Düzce University, Düzce, Turkey
Alergologia Polska – Polish Journal of Allergology 2024; 11, 4: 277–285
DOI: https://doi.org/10.5114/pja.2024.145210
Online publish date: 2024/11/21
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Introduction:
Asthma is the most common childhood chronic respiratory disease. There are many studies on asthma genetics today, but asthma genetics is still not clearly understood. As far as we know, there is no study in the literature evaluating the IL-4 or leukotriene C4 synthase (LTC4S) gene with the next generation sequencing method.

Aim:
In this study, we aimed to reveal the changes in IL-4 and LTC4S genes by next-generation sequencing analysis in patients followed up with the diagnosis of asthma.

Material and methods:
This is a prospective study conducted on 50 patients who were diagnosed with asthma and followed up by a specialist physician according to GINA criteria at an outpatient clinic of Pediatrics in a University Hospital. DNA isolation was performed, and IL-4 and LTC4S genes were scanned from the isolated DNA samples using the next generation sequencing method. In addition, demographic, clinical and laboratory data of the patients were recorded.

Results:
A total of 50 patients, 32 (64%) male and 18 (36%) female, were included in the study. Variation was detected in 31 (62%) of 50 patients included in our study. The variants c.-33C>T in intron 1, c.361-9C>A in intron 3, c.360+18 C>A in intron 3 and c.23G >A in exon 4 of the IL-4 gene were detected in the asthmatic case group. The variants c.59-10 C>A in intron 1, c.-33 C>T in intron 1, c.230-12 T>C in intron 3, c.361-9 C>A in intron 3 and c.312-16 T>C in intron 5 were identified in the LTC4S gene.

Conclusions:
In our study, we found 9 different genetic changes that may contribute to the pathogenesis of the disease in the presence of available data in patients with asthma. The genetic changes detected in IL-4 and LTC4S genes in our study will contribute to studies on the diagnosis, prognosis and treatment of asthma.

keywords:

asthma, child, IL-4 gene, LTC4S gene, next generation sequencing analysis


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