Variantes genéticas de susceptibilidad en epilepsia genética generalizada en familias colombianas

  1. Tejada Moreno, Johanna 1
  2. Carrizosa Moog, Jaime 2
  3. Gomez Castillo, Christhian 2
  4. Medina Malo, Carlos 3
  5. Uscategui, Angelica 4
  6. Guio, Laura 3
  7. Cabrera Hemer, Dagoberto 2
  8. Rojas, Winston 5
  9. Cornejo Ochoa, William 2
  10. Pineda Trujillo, Nicolás 1
  1. 1 Grupo Mapeo Genético, Departamento de Pediatria, Facultad de Medicina. Universidad de Antioquia. Medellín-Colombia.
  2. 2 Pediaciencias, Departamento de Pediatria, Facultad de Medicina. Universidad de Antioquia. Medellín-Colombia.
  3. 3 Liga Central Contra la Epilepsia, LICCE. Bogotá-Colombia.
  4. 4 Departamento de Pediatria. Universidad Nacional de Colombia. Bogotá-Colombia.
  5. 5 Genética Molecular. Insitituto de Biología, Universidad de Antioquia. Medellín-Colombia.
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Journal:
Acta Neurológica Colombiana

ISSN: 2422-4022,  0120-8748

Year of publication: 2018

Volume: 34

Issue: 3

Pages: 175-183

Type: Article

DOI: 10.22379/24224022209 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Acta Neurológica Colombiana

Abstract

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.

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