Bromodomain-containing protein 2 gene polymorphism among patients with photosensitive epilepsy in Indonesia

Objectives

Genetic-associated epilepsy in the Indonesian population is rarely discussed, and no study was specifically studied about photosensitive epilepsy. The fundamental goal of this research endeavor was to evaluate whether the single nucleotide polymorphism (SNP) of the Bromodomain-Containing Protein 2 (BRD2) gene gives vulnerability to photosensitive epilepsy among Indonesian descent.

Methods

This observational case–control study includes patients of Indonesian descent with Javanese ancestry. Clinical and neurophysiological data, along with electroencephalographic (EEG) recordings, were used to diagnose epilepsy and photosensitive epilepsy. Blood samples were collected and analyzed for BRD2 gene SNPs (rs206781, rs188245, and rs15912) using polymerase chain reaction (PCR), electrophoresis, and the Sanger sequencing method.

Results

This study included 27 participants, consisting of 17 patients in the epilepsy group (nine patients with photosensitive epilepsy and eight patients without photosensitive epilepsy) and 10 patients in the non-epilepsy group. Significant statistical differences were found in genotype (rs206781, p = 0.008 and rs188245, p = 0.004) and allele frequencies (rs206781, p < 0.001 and rs188245, p < 0.001) of the BRD2 gene in Indonesian descent with Javanese race patients diagnosed with photosensitive epilepsy and in those without this condition.

Significance

Our study corroborates the observation that genetic diversity within the BRD2 locus (rs206781 and rs188245) is associated with PE in Indonesian descendants of the Javanese race. To acquire a complete knowledge of the development of photosensitive epilepsy, further polymorphism studies at other SNP locations or genes are necessary.

Plain Language Summary

This study investigated whether genetic differences in the BRD2 gene were linked to photosensitive epilepsy (a type of epilepsy triggered by visual stimuli like flashing lights) in individuals of Indonesian Javanese descent. We analyzed deoxyribonucleic acid (DNA) samples from patients with epilepsy, including those with photosensitive epilepsy, and found that certain variations in the BRD2 gene were significantly more common in people with photosensitive epilepsy. These findings imply that genetic factors, specifically variations in the BRD2 gene, could elevate the risk of individuals in this population experiencing photosensitive epilepsy.