Investigation of IL 2, IL 6 and IL 10 cytokine genes in patients with febrile convulsions by next generation sequence analysis

Introduction: Although the pathogenesis of Febrile Convulsion (FC) cannot be fully explained, family history and genetic predisposition are the most important factors in all studies. The role of genetic mutations in the family history in the studies of our country and in the world is compatible and interesting with the literature.In some sttudies, the underlying genetic predisposition with fever-related seizures is thought to be linked to interleukin (IL) 2, 6, 10, and tumor necrosis factor (TNF), which play a role in the regulation of proinflammatory and anti-inflammatory. In this study, changes in genes encoding IL 2, IL 6 and IL 10 cytokines were investigated in patients with febrile convulsions of unknown origin in our region. Material and Method: 42 patients who were evaluated with the diagnosis of FK who applied to the Pediatric Emergency Service between August 2018 and May 2019 participated prospectively in the study according to the determined criteria. The Control Group was added to the study to be selected from a similar age range with a group of 12 patients according to the determined criteria. In addition to the genetic analysis of the Patient Group, a 30-question anamnesis questionnaires were distributed to patients who had febrile convulsions to be filled by their parents, The data obtained were added to the study findings, gender of the patients, drug use, family history, seizure numbers, seizure types, complete blood counts, C-reactive protein values and EEG examination results were performed in the study. In addition to the genetic analysis of the Control Group, complete blood counts and C-reactive protein values were compared with the group of patients who underwent FK. Results: 42 patients diagnosed with febrile convulsions, 27 (59.5%) were male and 15 (40.5%) were female. The male / female ratio was found to be 1.47/ 1. In our study, based on the type of seizure in the Patient Group, 32 (76.2%) out of the 42 cases had simple type of FC, while 10 (23.8%) out of the patients had the type of seizure defined as complicated FC. There was a history of febrile convulsion in childhood in the Patient Group of 24 (57.1%) cases who had first and second degree relatives, 18 (42.9%) children did not have a family history of febrile convulsion. In our study, genetic variation was observed in 31 (73.8%) out of 42 patients. The highest number of observation in IL 10 c.378 + 19T> C rs1554286 homozygous genetic variation was detected in all cases participating in the study. In the Control Group, 8 (66.6%) out of 12 cases had IL 10 c.378 + 19T> C rs1554286 homozygous genetic variation, other 4 cases in the Control Group had IL 10 c.378 + 19T> C rs1554286 heterozygous genetic variation. Conclusions: Our study is the first study to investigate IL 2, 6, 10 cytokine genes simultaneously with the New Generation Sequence Analysis. There are some prominent results in our study. In this study, as the number of febrile seizures decreased, agglomerations of cases increased in the Patient Group carrying the homozygous variation of IL10 c.378 + 19T > C rs1554286. The mentioned situation suggests that homozygous variation of IL 10 c.378 + 19T> C rs1554286 may have a protective effect against the disease and decrease the number of seizures. According to the results, it was observed that patients carrying variation in the IL 2 cytokine gene had a 1.414-fold higher risk of febrile convulsions than those who did not (OD: 1,414; CI: 1,161-1,721). According to the results obtained in our study, it can be interpreted that carrying variation in the IL 10 cytokine gene decreases the need for medication in patients with FK, and has a protective effect in this sense.