Association of carriers of single nucleotide polymorphisms rs206787 and rs516535 in gene BRD2 and rs3743123 in gene GJD2 with juvenile myoclonic epilepsy of Caucasian patients in the Siberia

Abstract

This article outlines recent findings on genetics of juvenile myoclonic epilepsy (JME), where JME occurrence is associated with polymorphic allelic variants in BRD2 gene (locus EJM3) and GJD2 gene (locus EJM2).Objective: To establish risk factors for development of JME in the context of genetic predisposition; specifically, polymorphic allelic variants rs206787 and rs516535 in the BRD2 gene and rs3743123 in the GJD2 gene.Materials and Methods: Using RT-PCR, we identified carriers of single nucleotide polymorphisms (SNPs) rs206787 and rs516535 in gene BRD2 and rs3743123 in gene GJD2, from samples of 79 JME patients and 150 healthy volunteers of European descent residing in the Siberian Federal District.Results: We found complete linkage disequilibrium between studied loci in patients with JME and healthy controls, however there was no association between SNPs rs206787 and rs516535 and JME development in our study population (р > 0,05). Haplotype TT/TT for SNPs rs206787 and rs516535 in the BRD2 gene associated with photoparoxysmal response (OR = 3,6; 95% CI 1,37 – 9,48; p = 0,02) in JME patients. Homozygosity of allele T (rs3743123) in the GJD2 gene was associated with risk of JME development in our study population (OR = 2,66; 95% CI 1,24 – 5,74; р = 0,04).Conclusion: These results strongly suggest that genotyping JME patients of European descent living in Siberia to identify carriers of haplotype TT/TT in BRD2 SNPs (locus EJM3) and T allele (rs3743123) in the GJD2 gene will enable personalised approach to JME diagnosis and management, as well as identification of high-risk individuals in affected families.

Keywords

• juvenile myoclonic epilepsy (jme)
• genetics
• brd2
• gjd2
• single nucleotide polymorphisms (snps)
• haplotypes
• photosensitivity