Analysis of SCN1A polymorphism as Genetic Risk Factor for Neurological Disorders

Abstract

Asmaa Mohammed Saud.

Epileptic seizures lead to changes in the importance of the blood laboratory tests which represent changes in various systems of organs in the body. A present study assessed the association between the rs3812718 polymorphism in SCN1A gene and susceptibility with epilepsy. In total, 48 subjects (28 patients and 20 controls) were included in the study. Subjects’ age and sex were matched. The patients' demographic profiles, including the gender (female: 26 and male; 34), mean of ages (21±8.6), the controls gender (female: 6 and male; 19) and age mean (39±13.3). Single nucleotide polymorphisms (SNPs) was used to investigate the distribution of SCN1A rs3812718 genotypes (G > A) in patients with Epilepsy. Direct sequencing is use to identify the (G>A) polymorphisms of the SCN1A gene on chromosome 2q24. Genotypes and allelic frequencies for the SCN1A in both groups were compared. In addition, the results show two other SNPs for the first time in Iraqi patients rs2217199 T>C and rs3812719 G>T and the study determines some biochemical tests (potassium) were performed by Reflotron and (glucose, sodium, chloride and calcium) by a Spectrophotometer in the sera of subjects. In this population, the alleles frequency of rs2217199/ C, rs3812719/ T, rs3812718/A, the susceptibility of epileptic with gene polymorphisms was correlated (OR = 5.84, p = 0.0001; OR = 4.41, p = 0.001; OR = 5.33, p = 0.001; respectively). The haplotype (CTA) was also significantly related with Epileptic patients (OR = 7.08; p = 0.001). Also, the study showed an increase in glucose levels at p-value= 0.008, normal value in serum K, Cl, Ca and Na levels in Epileptic patient with seizure compare with control. The study in an Iraqi population suggests that SCN1A polymorphisms genetic risk factor for Epileptic patients. Simple blood testing, particularly for some encephalopathies, can be a crucial help for recognizing the etiology.