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    Investigation of interleukin-4 (IL-4) and leukotriene C4 synthase (LTC4S) genes in patients with asthma by next-generation sequencing analysis
    (Termedia Publishing House Ltd., 2024) Engin, Muhammet Mesut Nezir; Kılıçaslan, Önder; Eröz, Recep; Özdemir, Öner; Temizkan, Ramazan Cahit; Kocabay, Kenan
    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.