Febril Nöbet Geçiren Çocuklarda Akuaporin 4 Gen Polimorfizmi

Yıl 2019, Cilt: 41 Sayı: 2, 132 - 140, 01.04.2019

Kursat Carman , Tunç Tuncel , Mustafa Çalık Yasemin Karal Sedat Işıkay Ozan Kocak Aysima Özçelik Ahmet Sami Yazar Çağatay Nuhoğlu Çiğdem Sag Ömer Kılıç Meltem Dinleyici Sevgi Yimenicioğlu Arzu Ekici Pelen Perk Ayşe Tosun İlhan Işık Coşkun Yarar Hüseyin Karacan Emrah Atay Ener Çağrı Dinleyici

https://doi.org/10.20515/otd.469491

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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