Korean J Biol Psychiatry.  2022 Oct;29(2):33-39. 10.22857/kjbp.2022.29.2.001.

Genetic Association Study of the Common Genetic Variation of Early Growth Response 3 Gene With Bipolar Disorder in Korean Population

  • 1Department of Psychiatry, Seoul National University Hospital, Seoul, Korea
  • 2Department of Psychiatry, Seoul National University College of Medicine, Seoul, Korea
  • 3Department of Psychiatry, Eulji University Hospital, Seoul, Korea


The early growth response 3 (EGR3) gene located in chromosome 8p21.3 is one of the susceptibility loci in many psychiatric disorders. EGR3 gene plays critical roles in signal transduction in the brain, which is involved in neuronal plasticity, neuronal development, learning, memory, and circadian rhythms. Recent studies have suggested EGR3 as a potential susceptibility gene for bipolar disorder (BPD). However, this requires further replication with an independent sample set.
To investigate the genetic role of EGR3 in Korean patients, we genotyped six single-nucleotide polymorphisms (SNPs) in the chromosome region of EGR3 in 1076 Korean BPD patients and 773 healthy control subjects.
Among the six examined SNPs of EGR3 (rs17088531, rs1996147, rs3750192, rs35201266, rs7009708, rs1008949), SNP rs35201266, rs7009708, rs1008949 showed a significant association with BPD (p = 0.0041 for rs35201266 and BPD2, p = 0.0074 for rs1008949 and BPD, p = 0.0052 for rs1008949 and BPD1), which withstand multiple testing correction. In addition, the ‘G-C-C-C’ and ‘G-C-G-C’ haplotypes of EGR3 were overrepresented in the patients with BPD (p = 0.0055, < 0.0001, respectively) and the ‘G-T-G-C’ haplotype of EGR3 was underrepresented in patients with BPD (p = 0.0040).
In summary, our study supports the association of EGR3 with BPD in Korean population sample, and EGR3 could be suggested as a compelling susceptibility gene in BPD.


Bipolar disorder; Early growth response 3
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