Anthropogenetic Variability in the Group of Individuals with Febrile Seizures: Population-Genetic Study.

Sanja Dimitrijevic,Dimitrije Nikolic,Biljana Jekic,Aleksandra Pusica,Tamara Filipovic,Suzana Cvjeticanin

doi:10.1155/2018/7845904

Sanja Dimitrijevic, Dimitrije Nikolic + Show 4 more

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https://doi.org/10.1155/2018/7845904

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Abstract

Febrile seizures (FS) are the most common neurological disorder in childhood and are a great stress for parents due to their dramatic clinical appearance. Using test for determination of homozygously recessive characteristics in humans (HRC test) we analyzed presence, distribution, and individual combination of 20 selected genetically controlled morphophysiological traits among FS patients (N=121) and control (N=121) to determine a possible deviation in the homozygosity level and genetic loads in the group of affected children and whether there is a predisposition to the occurrence of FS. The results of our study show a statistically significant difference in the mean values of the HRC tested ( CN = 3.2 ± 0.2; FS = 4.6 ± 0.2, t= 5.74 , p< 0.0001), as well as in the distribution and variability of two studied samples (VC=55,3%, VFS= 39,6%), which indicates a complex polygenic difference among the tested groups of subjects. The differences in the degree of genetic homozygosity and variability are also present between the genders (t Cf/FSf = 4.12; t Cm/FSm = 3.98; p <0.0001) (VCf=56.9%, VFSf= 39.3%; VCm=54.1%, VFSm=40.1%). Obtained results indicate the enlargement of recessively homozygous genetic loads in the group of children with FS which may represent some kind of predisposition for expressivity of this type of seizures.

Highlights

Febrile seizures (FS) are one of the most common neurological disorders in children and infants
Our results show that the degree of recessive homozygosity in all groups of patients (FS, Simplex febrile seizures (SFS), Complex febrile seizures (CFS), WFS, and EFS) significantly increases with respect to the control group (Table 1), while comparison among subgroups of the affected children shows no differences (Table 1)
Variability for the tested genes in the group of FS patients decreases compared to the control group of individuals (CN: V = 55.3%; FS: V = 39.6%)

Summary

Introduction

Febrile seizures (FS) are one of the most common neurological disorders in children and infants. It is estimated that 2-5% of children younger than 5 years of age experience at least one epileptic seizure during the febrile period [1, 2]. FS, as defined by the American Academy of Pediatrics (AAP), is “seizure occurring in febrile children between the ages of 6 and 60 months who do not have an intracranial infection, metabolic disturbance, or history of afebrile seizures” [3]. The diagnosis of FS is based on physical examination and anamnesis taken from the guardian, aiming primarily to detect the real cause that led to a FS [4, 5]. There is strong evidence showing that heterogeneous genetic predisposition interacting with various risk factors can lead to a FS [6, 7]

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Conclusion