Febril Nöbet Geçiren Çocuklarda Akuaporin 4 Gen Polimorfizmi

Öz

Febril nöbeti genetik temeli mevcuttur. Çalışmamızın amacı febril nöbet geçiren çocuklarda akuaporin 4 gen polimorfizminin ve febril nöbet kliniği üzerine olan etkilerinin araştırılmasıdır. Çok merkezli, prospektif olarak yürütülen bu çalışmaya febril nöbet geçiren 122 hasta ve kontrol grubu olarak 136 sağlıklı çocuk alınmıştır. Real time hibridizasyon yöntemi ile rs1058424 (A/T) and rs3763043 (C/T) tek nükleotid polimorfizmleri (SNPs) araştırıldı. Yapılan analiz sonucu rs3763043 (A/T) genotip AA, AT ve TT   sıklığı sırasıyla hasta grubunda % 48.4, %42.6, %9, kontrol grubunda %44,9, %46,3% ve %8,8 saptandı (p> 0.05).   rs1058424 (C/T) genotip CC, CT, ve TT sıklıkları ise hasta çocuklarda %61.5, %34.4, %4.1 bulunurken bu oranlar kontrol grubunda %64, %29.4 ve %6.6 belirlendi (p> 0.05).  Hastaların çoğunda febril nöbet basit tipteydi. İstatistiksel analiz normal genotip basit febril nöbet geçiren çocuklarda daha sık olduğu gösterdi. Polimorfizimle aile öyküsü, nöbet sayısı, süresi gibi nöbet özellikleri arasında istatiksel olarak anlamlı bir farklılık saptanmadı. Ulaştığımız veriler rs1058424 (A/T) ve rs3763043 (C/T) polimorfizmleri arasında bir ilişki olmadığını gösterdi ve bu konuda yapılan ilk araştırmadır. 

Anahtar Kelimeler

• febril nöbet,aquaporin-4,gen

Aquaporin 4 Gene Polymorphism in Children with Febrile Seizure

Öz

Febrile seizure (FS) has a genetic background. The purpose of this study is to search aquaporin-4 (AQP4) gene polymorphisms in children with FS and to explore their effect on the clinical features of FS. This prospective multicenter, case-control included 122 patients with febrile seizure and matched with age, sex 136 healthy control children. A real-time hybridization method was used to analyze and detect the rs1058424 (A/T) and rs3763043 (C/T) single-nucleotide polymorphisms (SNPs).  In patient group, the frequencies of rs3763043 (A/T) genotypes AA, AT and TT   were 48.4%, 42.6%, and 9% respectively, compared with 44,9%, 46,3% and 8,8% respectively, in control group. The results showed that the frequencies of rs1058424 (C/T) genotypes CC, CT, and TT 61,5%, 34,4% and 4,1% respectively in children with febrile seizures, compared 64%, 29,4% and 6,6% respectively in controls (p >0.05). The majority of children experienced simple type FS and their first FS. The statistical analysis showed that wild-type genotype was more common in children with simple FS. There was no statistically significant effect of the SNPs on the features of FS, such as family history, number of seizure or duration. The data obtained from molecular analysis show a lack of association between the rs1058424 (A/T) and rs3763043 (C/T) SNPs and FS in children. This is the first research conducted to examine the relationship between AQP4 and FS. 

Anahtar Kelimeler

• febrile seizure,aquaporin-4,gene

Kaynakça

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