The relationship between DIRAS1 gene and idiopathic generalized epilepsy in the Turkish population

Kaplan Ö., Pekmez M., Akinci Y., Atakli H. D., Eren F., Dirican A. C., ...More

GENE REPORTS, vol.23, 2021 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 23
  • Publication Date: 2021
  • Doi Number: 10.1016/j.genrep.2021.101177
  • Journal Name: GENE REPORTS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, BIOSIS, EMBASE
  • Keywords: Idiopathic generalized epilepsy, DIRAS1, Gene polymorphism, MYOCLONIC EPILEPSY, SUSCEPTIBILITY, POLYMORPHISMS, REPEAT, RAS
  • Istanbul University Affiliated: Yes


Idiopathic generalized epilepsy (IGE) is a type of epilepsy with a monogenic or polygenic inheritance pattern representing 47% of all epilepsies. Idiopathic epilepsies have a complex genetic structure and the genetic factors involved in the development of epilepsy are still unclear. Dog models are often used in researching the complex genetic basis of epilepsy. A study of Rhodesian Ridgeback (RR) dogs with generalized myoclonic epilepsy found a 4-bp-deletion in the second exon of the DIRAS1 gene. In the literature, there is no study on the presence of a relationship between DIRAS1 gene and epilepsy in human population. We aimed to analyze whether there is a relationship between human epilepsy and DIRAS1 gene. For genomic analysis, peripheral blood samples were taken from 109 patients diagnosed with IGE and 51 healthy volunteers in the Turkish population. Genomic DNA isolation was performed from blood samples and the DIRAS1 gene region of the genomic DNA was amplified by Polymerase Chain Reaction (PCR). PCR products were purified and sequenced. DNA sequencing results were analyzed by chi-squared test. In the patient and control groups, G/C change was found in nucleotide 549 of DIRAS1 gene. No significant correlation was found between the distribution of DIRAS1-549-G/C genotypes and allele frequencies (p = 0.8 and p = 0.7, respectively). In this study, DIRAS1-549-G/C polymorphism has been shown not to play an important role in the development of epilepsy in the Turkish population. As a result, new data on IGEs whose molecular mechanism is still not fully elucidated has been revealed.