AY2 subunit of Y-aminobutyric acid type a receptor (GABRG2)‎ gene polymorphism in children with febrile seizures

Abstract EN

Background : the y-Amino butyric Acid Receptor (GABR) is the predominant ligand-gated CI-ion channel conferring fast inhibitory synaptic transmission in the CNS, hence an abnormality of gamma-amino butyric acid (GABA)-ergo neurotransmission has been suggested as an etiologic factor in epileptogenesis.

Missense mutations in the y2 subunit of y-Amino butyric Acid Type A Receptor (GABRG2) gene, which encodes the y2 subunit of central nervous GABAA receptors, have been described with familial epilepsies.

It is not known, however, whether polymorphisms in those genes also contribute to the pathogenesis of FS.

Aims: to investigate whether polymorphisms in GABRG2 also contribute to the pathogenesis of Febrile Seizures (FS).

Methods : A total of 42 children with FSs and 50 normal control subjects were included in the study.

Polymerase chain reaction was used to identify the C / T polymorphism of the GABRG2 gene on chromosome 5q33.

Genotyping and allelic frequencies for gene polymorphism in both groups were compared.

Results : the number individuals with a homozygous GABRG2 (SNP211037)-C genotype and the C- allele frequency were significantly higher (p<0.05 and p<0.01 respectively), in patients with FSs compared to healthy controls.

Furthermore, the number of homozygous GABRG2 (SNP211037)-C genotype and the C-allele frequency were significantly higher in patients with positive family history of FSs compared to patients with negative family history.

Conclusion : this study demonstrated an association between the GABRG2 gene and FSs.

It also suggests that the GABRG2 gene or a closely linked gene might be one of the susceptibility factors for FSs.