Exp Mol Med.  2012 Feb;44(2):121-129. 10.3858/emm.2012.44.2.007.

Genetic association of the EGR2 gene with bipolar disorder in Korea

  • 1Department of Neuropsychiatry, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 110-744, Korea. kys@snu.ac.kr
  • 2Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-744, Korea.
  • 3Department of Psychiatry and Behavioral Science and Institute of Human Behavioral Medicine, Seoul National University College of Medicine, Seoul 110-744, Korea.
  • 4Department of Neuropsychiatry, Eulji General Hospital, Eulji University School of Medicine, Seoul 139-711, Korea.
  • 5Department of Biomedical Science and Technology IBST, Konkuk University, Seoul 143-701, Korea.


The early growth response gene 2 (EGR2) is located at chromosome 10q21, one of the susceptibility loci in bipolar disorder (BD). EGR2 is involved in cognitive function, myelination, and signal transduction related to neuregulin-ErbB receptor, Bcl-2 family proteins, and brain-derived neurotrophic factor. This study investigated the genetic association of the EGR2 gene with BD and schizophrenia (SPR) in Korea. In 946 subjects (350 healthy controls, 352 patients with BD, and 244 with SPR), nine single nucleotide polymorphisms (SNPs) in the EGR2 gene region were genotyped. Five SNPs showed nominally significant allelic associations with BD (rs2295814, rs61865882, rs10995315, rs2297488, and rs2297489), and the positive associations of all except rs2297488 remained significant after multiple testing correction. Linkage disequilibrium structure analysis revealed two haplotype blocks. Among the common identified haplotypes (frequency > 5%), 'T-G-A-C-T (block 1)' and 'A-A-G-C (block 2)' haplotypes were over-represented, while 'C-G-G-T-T (block 1)' haplotype was under-represented in BD. In contrast, no significant associations were found with SPR. Although an extended analysis with a larger sample size or independent replication is required, these findings suggest a genetic association of EGR2 with BD. Combined with a plausible biological function of EGR2, the EGR2 gene is a possible susceptibility gene in BD.


bipolar disorder; EGR2 protein, human; genes, immediate early; genetic association studies; schizophrenia
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