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Acta Neurológica Colombiana
Print version ISSN 0120-8748
Abstract
TEJADA MORENO, Johanna et al. Susceptibility gene variants in genetic generalized epilepsy in Colombian families. Acta Neurol Colomb. [online]. 2018, vol.34, n.3, pp.175-183. ISSN 0120-8748. https://doi.org/10.22379/24224022209.
INTRODUCTION:
Generalized genetic epilepsies (GGE) follow complex inheritance patterns. This phenotype is due to interaction of several genes with environmental factors. The genes/loci most consistently associated with this group of epilepsies are ECA1, ECA2-GABRG2, ECA3-CLCN2 (also known as JME6-CLCN2), JME1-EFHC1 and JME5-GABRA1. In Colombia, little is known about the contribution of gene variants to susceptibility to GGE forms. Our purpose was to evaluate the role of the five most consistently associated genes /loci in other studies, in Colombian families set with GGE.
METHODS:
Genotypes were obtained by means of PCR-RFLP and ARMS-Tetraprimer. Statistical analyses included both allelic and haplotypic association tests, in addition to gene-gene interaction tests. Two genetic markers were tested for each gene/locus.
RESULTS:
Ninety-eight families were included, from which 51 had absence epilepsy, and 47 had juvenile myoclonic epilepsy. A significant interaction was identified between allele G at marker rs4428455 (P-value = 0.0008; gene GABRA1) and allele G at marker rs719395 (P-value = 0.002; gene EFHC1).
CONCLUSION:
Our results suggest that these two markers are associated with GGE in the Colombian population. Other genes not analyzed could be tested using a larger sample size.
Keywords : epilepsy; epilepsy, generalized; genes; genetic association studies (MeSH).