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Peer-reviewedCC BY-NC-NDTranslational psychiatry

A combined study of whole-exome sequencing and structural neuroimaging markers in bipolar disorder.

  • Seong-Woo Park1
  • Kyu-Man Han2,3
  • Eun-Young Oh1
  • Youbin Kang4
  • Aram Kim4
  • Jihoon Park2
  • Daun Shin2
  • Woo-Suk Tae3
  • Mi-Ryung Han5,6
  • Byung-Joo Ham7,8
8 affiliations
  1. 1Division of Life Sciences, College of Life Sciences and Bioengineering, Incheon National University, Incheon, Republic of Korea.
  2. 2Department of Psychiatry, Korea University Anam Hospital, Korea University College of Medicine, Seoul, Republic of Korea.
  3. 3Brain Convergence Research Center, Korea University College of Medicine, Seoul, Republic of Korea.
  4. 4Institute of Human Behavior and Genetics, Korea University College of Medicine, Seoul, Republic of Korea.
  5. 5Division of Life Sciences, College of Life Sciences and Bioengineering, Incheon National University, Incheon, Republic of Korea. [email protected].
  6. 6Institute for New Drug Development, College of Life Science and Bioengineering, Incheon National University, Incheon, Republic of Korea. [email protected].
  7. 7Department of Psychiatry, Korea University Anam Hospital, Korea University College of Medicine, Seoul, Republic of Korea. [email protected].
  8. 8Brain Convergence Research Center, Korea University College of Medicine, Seoul, Republic of Korea. [email protected].
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Abstract

Bipolar disorder (BD) is a highly heritable psychiatric disorder. An increasing number of whole-exome sequencing (WES) studies have been conducted on psychiatric research. However, few studies have investigated the association between single nucleotide variants (SNVs) in WES and structural brain changes in patients with BD. We conducted WES on 93 patients with BD and 161 healthy controls (HCs) to detect germline variants and copy number alterations (CNAs), as well as the gene-based effects of rare variants on BD. The impact of genetic factors on structural neuroimaging markers, including cortical thickness and white matter tract integrity, was examined using neuroimaging-genetic association analysis. We identified 382 BD-related genes, including SYNE1, PKHD1L1, FRAS1, and ZFHX4, from a systematic review, and the most frequently mutated genes. We identified a new gene, GNB3, which harbors a significant burden of rare nonsynonymous variants that affect BD. By integrating WES and structural neuroimaging data, we found that the single nucleotide polymorphism (SNP) rs56850341 in KMT2C was substantially correlated with structural neuroimaging measures, including cortical thickness and white matter tract integrity. In the present study, we suggest that rare nonsynonymous variants in GNB3 may be involved in the pathophysiology of BD, and that highly contributing heritable genetic variant in KMT2C may influence brain structural changes.

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Cite

BibTeXRIS
BibTeX
@article{park2026combined,
  title = {{A combined study of whole-exome sequencing and structural neuroimaging markers in bipolar disorder.}},
  author = {Seong-Woo Park and Kyu-Man Han and Eun-Young Oh and Youbin Kang and Aram Kim and Jihoon Park and Daun Shin and Woo-Suk Tae and Mi-Ryung Han and Byung-Joo Ham},
  journal = {Translational psychiatry},
  year = {2026},
  month = jul,
  doi = {10.1038/s41398-026-04291-0},
  url = {https://europepmc.org/article/MED/42897150},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - A combined study of whole-exome sequencing and structural neuroimaging markers in bipolar disorder.
AU  - Seong-Woo Park
AU  - Kyu-Man Han
AU  - Eun-Young Oh
AU  - Youbin Kang
AU  - Aram Kim
AU  - Jihoon Park
AU  - Daun Shin
AU  - Woo-Suk Tae
AU  - Mi-Ryung Han
AU  - Byung-Joo Ham
PY  - 2026
DA  - 2026/07/01
JO  - Translational psychiatry
DO  - 10.1038/s41398-026-04291-0
UR  - https://europepmc.org/article/MED/42897150
AB  - Bipolar disorder (BD) is a highly heritable psychiatric disorder. An increasing number of whole-exome sequencing (WES) studies have been conducted on psychiatric research. However, few studies have investigated the association between single nucleotide variants (SNVs) in WES and structural brain changes in patients with BD. We conducted WES on 93 patients with BD and 161 healthy controls (HCs) to detect germline variants and copy number alterations (CNAs), as well as the gene-based effects of rare variants on BD. The impact of genetic factors on structural neuroimaging markers, including cortical thickness and white matter tract integrity, was examined using neuroimaging-genetic association analysis. We identified 382 BD-related genes, including SYNE1, PKHD1L1, FRAS1, and ZFHX4, from a systematic review, and the most frequently mutated genes. We identified a new gene, GNB3, which harbors a significant burden of rare nonsynonymous variants that affect BD. By integrating WES and structural neuroimaging data, we found that the single nucleotide polymorphism (SNP) rs56850341 in KMT2C was substantially correlated with structural neuroimaging measures, including cortical thickness and white matter tract integrity. In the present study, we suggest that rare nonsynonymous variants in GNB3 may be involved in the pathophysiology of BD, and that highly contributing heritable genetic variant in KMT2C may influence brain structural changes.
SN  - 2158-3188
ER  -