Total for the last 12 months
number of access : ?
number of downloads : ?
ID 115603
Title Alternative
GWAS of bipolar disorder
Ikeda, M Fujita Health University
Takahashi, A RIKEN Center for Integrative Medical Sciences|National Cerebral and Cardiovascular Center
Kamatani, Y RIKEN Center for Integrative Medical Sciences
Okahisa, Y Okayama University
Kunugi, H National Center of Neurology and Psychiatry
Mori, N Hamamatsu University School of Medicine
Sasaki, T The University of Tokyo
Okamoto, Y Hiroshima University
Kawasaki, H Fukuoka University
Shimodera, S Kochi University
Kato, T RIKEN Brain Science Institute
Yoneda, H Osaka Medical College
Yoshimura, R University of Occupational and Environmental Health
Iyo, M Chiba University
Matsuda, K The University of Tokyo
Akiyama, M RIKEN Center for Integrative Medical Sciences
Ashikawa, K RIKEN
Kashiwase, K Japanese Red Cross Kanto-Koshinetsu Block Blood Center
Tokunaga, K University of Tokyo
Kondo, K Fujita Health University
Saito, T Fujita Health University
Shimasaki, A Fujita Health University
Kawase, K Fujita Health University
Kitajima, T Fujita Health University
Matsuo, K Yamaguchi University
Itokawa, M Tokyo Metropolitan Institute of Medical Science
Someya, T Niigata University
Inada, T Nagoya University
Hashimoto, R Osaka University
Inoue, T Tokyo Medical University
Akiyama, K Dokkyo Medical University
Tanii, H Mie University
Arai, H Juntendo University
Kanba, S Kyushu University
Ozaki, N Nagoya University
Kusumi, I Hokkaido University
Yoshikawa, T RIKEN Brain Science Institute
Kubo, M RIKEN Center for Integrative Medical Sciences
Iwata, N Fujita Health University
Content Type
Journal Article
Genome-wide association studies (GWASs) have identified several susceptibility loci for bipolar disorder (BD) and shown that the genetic architecture of BD can be explained by polygenicity, with numerous variants contributing to BD. In the present GWAS (Phase I/II), which included 2964 BD and 61 887 control subjects from the Japanese population, we detected a novel susceptibility locus at 11q12.2 (rs28456, P=6.4 × 10−9), a region known to contain regulatory genes for plasma lipid levels (FADS1/2/3). A subsequent meta-analysis of Phase I/II and the Psychiatric GWAS Consortium for BD (PGC-BD) identified another novel BD gene, NFIX (P best=5.8 × 10−10), and supported three regions previously implicated in BD susceptibility: MAD1L1 (P best=1.9 × 10−9), TRANK1 (P best=2.1 × 10−9) and ODZ4 (P best=3.3 × 10−9). Polygenicity of BD within Japanese and trans-European-Japanese populations was assessed with risk profile score analysis. We detected higher scores in BD cases both within (Phase I/II) and across populations (Phase I/II and PGC-BD). These were defined by (1) Phase II as discovery and Phase I as target, or vice versa (for ‘within Japanese comparisons’, Pbest~10−29, R2~2%), and (2) European PGC-BD as discovery and Japanese BD (Phase I/II) as target (for ‘trans-European-Japanese comparison,’ Pbest~10−13, R2~0.27%). This ‘trans population’ effect was supported by estimation of the genetic correlation using the effect size based on each population (liability estimates~0.7). These results indicate that (1) two novel and three previously implicated loci are significantly associated with BD and that (2) BD ‘risk’ effect are shared between Japanese and European populations.
Journal Title
Molecular Psychiatry
Springer Nature
Start Page
End Page
Published Date
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit
DOI (Published Version)
URL ( Publisher's Version )
FullText File
Medical Sciences