The paper investigates the association between mosaic loss events in blood and schizophrenia or bipolar disorder, finding increased odds ratios in young-onset cases.

medRxiv · Jun 13, 2025 · PreprintGenetic & Genomic Medicine

Improving Polygenic Prediction in Ancestrally Diverse Populations

Yunfeng Ruan, Kuang Lin, Yen‐Chen Anne Feng, Chia‐Yen Chen, Max Lam, Zhenglin Guo, Stanley Global Asia Initiatives, Yong Min Ahn, Kazufumi Akiyama, Makoto Arai, Ji Hyun Baek, Wei J. Chen, Young‐Chul Chung, Gang Feng, Kumiko Fujii, , Tian Ge

This paper introduces PRS-CSx, a method that improves polygenic prediction across ancestrally diverse populations by integrating GWAS summary statistics and sharing genetic effects.

Nature Genetics · May 1, 2022Peer-reviewedGenetic & Genomic Medicine

Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

Niamh Mullins, Andreas J. Forstner, Kevin Sean O’Connell, Brandon J. Coombes, Jonathan R. I. Coleman, Zhen Qiao, Thomas D. Als, Tim B. Bigdeli, Sigrid Børte, Julien Bryois, Alexander W. Charney, Ole Kristian Drange, Michael J. Gandal, Saskia P. Hagenaars, Masashi Ikeda, , Janos L. Kalman

Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

Nature Genetics · May 17, 2021Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest

Large scale genome-wide association study in a Japanese population identified 45 novel susceptibility loci for 22 diseases

Kazuyoshi Ishigaki, Masato Akiyama, Masahiro Kanai, Atsushi Takahashi, Eiryo Kawakami, Hiroki Sugishita, Saori Sakaue, Nana Matoba, Siew‐Kee Low, Yukinori Okada, Chikashi C. Terao, Tiffany Amariuta, Steven Gazal, Yuta Kochi, Momoko Horikoshi, , Yoichiro Kamatani

A large-scale GWAS in 212,453 Japanese individuals identified 45 novel susceptibility loci for 22 diseases, highlighting the importance of non-European population studies.

Nature Genetics · Jun 8, 2020Peer-reviewedGenetics

Promoter activity-based case-control association study on SLC6A4 highlighting hypermethylation and altered amygdala volume in male patients with schizophrenia

Tempei Ikegame, Miki Bundo, Naohiro Okada, Y. Murata, Shinsuke Koike, Hiroko Sugawara, Takeo Saito, Masashi Ikeda, Keiho Owada, Masaki Fukunaga, Fumio Yamashita, Daisuke Koshiyama, Tatsunobu Natsubori, Norichika Iwashiro, Tatsuro Asai, , Kazuya Iwamoto

The paper identifies hypermethylation of SLC6A4 in male schizophrenia patients and links it to reduced amygdala volume and 5-HTTLPR genotype.

Schizophrenia Bulletin · May 27, 2020Peer-reviewedGenetics

The genetic architecture of the human cerebral cortex

Katrina L. Grasby, Neda Jahanshad, Jodie N. Painter, Lucía Colodro‐Conde, Janita Bralten, Derrek P. Hibar, Penelope A. Lind, Fabrizio Pizzagalli, Christopher R. K. Ching, Mary Agnes B. McMahon, Natalia Shatokhina, Leo Charles Peek Zsembik, Sophia I. Thomopoulos, Alyssa H. Zhu, Lachlan T. Strike, , Yuri Milaneschi

The paper identifies genetic loci associated with human cortical structure and finds genetic correlations with neuropsychiatric disorders.

Science · Mar 19, 2020Peer-reviewedGenetics

Comparative genetic architectures of schizophrenia in East Asian and European populations

Max Lam, Chia‐Yen Chen, Zhiqiang Li, Alicia R. Martin, Julien Bryois, Xixian Ma, Héléna A. Gaspar, Masashi Ikeda, Beben Benyamin, Brielin C. Brown, Ruize Liu, Wei Zhou, Lili Guan, Yoichiro Kamatani, Sung‐Wan Kim, , Hailiang Huang

This study identifies schizophrenia genetic associations in East Asian and European populations, finding similar genetic effects across ancestries but highlighting challenges in polygenic risk prediction across groups.

Nature Genetics · Nov 18, 2019Peer-reviewedGenetics