Atopik dermatitli çocuklarda KIF3A gen polimorfizminin etkisinin belirlenmesi

Atopic dermatitis (AD) is the most common chronic, pruritic, recurrent inflammatory skin disease in childhood. Disruption of the skin barrier and exaggeration of the immune response (especially the Th2 response) seem to be associated with the development, severity and persistence of atopic diseases. Skin barrier/epidermal regulation genes and genes involved in immune response/host defense play key roles. However, the mechanism of these relationships is not clear yet. In recent years, studies indicating that KIF3A may have an important role in skin barrier homeostasis and inflammation have been increasing. The literature has begun to reveal the relationship between the KIF3A gene (rs2897442) polymorphism and AD. To date, the relationship between atopic dermatitis and genetic mutation has not been demonstrated in Turkish population. It is aimed to investigate the KIF3A mutation and the inflammatory changes that occur in Turkish children with atopic dermatitis and their relationship with each other. The KIF3A gene (rs2897442) polymorphism was performed in 48 with atopic dermatitis and 46 healthy children aged 2 months to 16 years. Clinical data including age, gender, atopy status, SCORAD, presence of other concomitant allergic diseases, family history, and eosinophil count, percentage, total Ig E, skin prick test results were recorded. DNA isolation was performed using the DNA Isolation Robot. Real-Time PCR (RT-PCR) was then performed using the KIF3A detection kit. Allelic discrimination was then obtained from both the patient and control groups. Then, statistical analyzes were made using Fisher's Exact Tests and Chi-square tests in SPSS 26.0 program, and also student's t-test, Mann-Whitney U-test and Kruskal-Wallis test were used for numerical values. P values less than or equal to 0.05 are considered statistically significant. The KIF3A region of 48 patients with atopic dermatitis ( M: 25, F: 23 with a mean age of 4.89 ± 3.67 years) and 46 healthy children in the control group (M: 27, F: 19 with a mean age of 3.76 ± 2.83) years was genotyped. Total IgE, absolute eosinophil count and eosinophil percentage are higher in individuals with atopic dermatitis than in healthy individuals. There was no significant difference between KIF3A genotype and atopic dermatitis and control groups (p=0.08). Carrying the CC genotype increased the risk of atopic dermatitis disease 4 fold compared to the control group (p=0.043, χ2 =4.610, OR=4.053, 95%). CI=1.051-15.631). Carrying the T allele protects against atopic dermatitis (p=0.040, OR=0.235, 95%. CI=0.061-0.905). TT genotype had lower absolute eosinophil counts (p=0.023), and those with C allele had higher values (p=0.023). No statistically significant relationship was found between the KIF3A gene polymorphism and the severity of atopic dermatitis. In conclusion, It is the first pilot study showing the risk of KIF3A gene polymorphism in the development of atopic dermatitis for the Turkish population. Carrying a homozygous C (CCgenotype) increases the risk of developing AD, and carrying the T allele decreases the risk of AD. TT genotype had lower absolute eosinophil counts, and those with C allele had higher values In this regard, it is recommended to perform gene polymorphism in a larger study group and to conduct more analysis on the genotype-phenotype relationship and its effect on treatment.