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

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dc.contributor.authorEngin, Muhammet Mesut Nezir
dc.contributor.authorKılıçaslan, Önder
dc.contributor.authorEröz, Recep
dc.contributor.authorÖzdemir, Öner
dc.contributor.authorTemizkan, Ramazan Cahit
dc.contributor.authorKocabay, Kenan
dc.date.accessioned2025-04-16T08:22:34Z
dc.date.available2025-04-16T08:22:34Z
dc.date.issued2024
dc.departmentTıp Fakültesi
dc.description.abstractIntroduction: 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.
dc.identifier.doi10.5114/pja.2024.145210
dc.identifier.endpage285
dc.identifier.issn2353-3854
dc.identifier.issue4
dc.identifier.startpage277
dc.identifier.uri10.5114/pja.2024.145210
dc.identifier.urihttps://hdl.handle.net/20.500.12451/13060
dc.identifier.volume11
dc.identifier.wos001410126000001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.institutionauthorEröz, Recep
dc.language.isoen
dc.publisherTermedia Publishing House Ltd.
dc.relation.ispartofAlergologia Polska - Polish Journal of Allergology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAsthma
dc.subjectChild
dc.subjectIL-4 gene
dc.subjectLTC4S gene
dc.subjectNext Generation Sequencing Analysis
dc.titleInvestigation of interleukin-4 (IL-4) and leukotriene C4 synthase (LTC4S) genes in patients with asthma by next-generation sequencing analysis
dc.typeArticle

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