This study identifies twelve novel blood pressure loci and shows smoking modifies genetic effects on BP through immune-related pathways in over 1 million individuals.

medRxiv · Oct 6, 2025 · PreprintGenetic & Genomic Medicine

Associations between mosaic loss and schizophrenia or bipolar disorder of young onset

Shunsuke Uchiyama, Takeo Saito, Xiaoxi Liu, Yuki Ishikawa, Keiko Hikino, Masashi Ikeda, Giulio Genovese, Nakao Iwata, Chikashi C. Terao

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

Genetic insights into ossification of the posterior longitudinal ligament of the spine

Yoshinao Koike, Masahiko Takahata, Masahiro Nakajima, Nao Otomo, Hiroyuki Suetsugu, Xiaoxi Liu, Tsutomu Endo, Shiro Imagama, Kazuyoshi Kobayashi, Takashi Kaito, Satoshi Kato, Yoshiharu Kawaguchi, Masahiro Kanayama, Hiroaki Sakai, Takashi Tsuji, , Shiro Ikegawa

This study identifies genetic loci and causal traits associated with ossification of the posterior longitudinal ligament of the spine using GWAS and Mendelian randomization analyses.

eLife · Jun 16, 2023Peer-reviewedGenetic & Genomic Medicine

Mobile elements in human population-specific genome and phenotype divergence

Shohei Kojima, Satoshi Koyama, Mirei Ka, Yuka Saito, Erica H. Parrish, Mikiko Endo, Sadaaki Takata, Misaki Mizukoshi, Keiko Hikino, Atsushi Takeda, Asami F. Gelinas, Steven M. Heaton, Rie Koide, Anselmo Jiro Kamada, Michiya Noguchi, , Nicholas F. Parrish

The paper develops a tool to genotype mobile element variants (MEVs) using short-read data and identifies population-specific MEs linked to disease and gene regulation.

bioRxiv · Mar 25, 2022 · PreprintGenetics