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Jan 16, 2025 | 
jnnp.bmj.com | Chris Kato |Satoru Morimoto |Shinichi Takahashi |Shinichi Namba
Spinal cord motor neuron phenotypes and polygenic risk scores in sporadic amyotrophic lateral sclerosis: deciphering the disease pathology and therapeutic potential of ropinirole hydrochloride Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service.
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Nov 11, 2024 | 
nature.com | Kenichi Yamamoto |Shinichi Namba |Kyuto Sonehara |Ken Suzuki |Saori Sakaue |Koichi Matsuda | +2 more
AbstractThe tripartite ancestral structure is a recently proposed model for the genetic origin of modern Japanese, comprising indigenous Jomon hunter-gatherers and two additional continental ancestors from Northeast Asia and East Asia. To investigate the impact of the tripartite structure on genetic and phenotypic variation today, we conducted biobank-scale analyses by merging Biobank Japan (BBJ; n = 171,287) with ancient Japanese and Eurasian genomes (n = 22).
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Oct 13, 2024 | 
nature.com | Shinichi Namba |Masato Akiyama |Haruka Hamanoue |Itaru Kushima |Koichi Matsuda |Masahiro Nakatochi | +4 more
Private enterprises offer preimplantation genetic testing with polygenic scores to select embryos with ‘desirable’ potential. In silico simulations using biobank resources show that the selected embryo would rely substantially on the choice of polygenic score method and randomness in score construction, which raises ethical concerns.
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Sep 27, 2024 | 
nature.com | Qingbo Wang |Ho Namkoong |Ryunosuke Saiki |Kyuto Sonehara |Shuhei Azekawa |Yugo Takahashi | +12 more
Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01896-3, published online 24 September 2024. In the version of the article initially published, there was an error in the x-axis label of Fig. 1a, where in the text now reading “pQTL –log10(P) ≥ x” it originally read “… ≤ x.” In the keys to both graphs in Fig. 7b, the blue dot was listed as “β > 0” and has now been amended to “β < 0.” The symbols are corrected in the HTML and PDF versions of the article.
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Sep 24, 2024 | 
nature.com | Qingbo Wang |Ho Namkoong |Ryunosuke Saiki |Kyuto Sonehara |Shuhei Azekawa |Saori Sakaue | +12 more
AbstractStudying the genetic regulation of protein expression (through protein quantitative trait loci (pQTLs)) offers a deeper understanding of regulatory variants uncharacterized by mRNA expression regulation (expression QTLs (eQTLs)) studies. Here we report cis-eQTL and cis-pQTL statistical fine-mapping from 1,405 genotyped samples with blood mRNA and 2,932 plasma samples of protein expression, as part of the Japan COVID-19 Task Force (JCTF).
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Sep 20, 2024 | 
nature.com | Tatsuhiko Naito |Shinichi Namba |Kyuto Sonehara |Ken Suzuki |Biobank Japan |Koichi Matsuda | +2 more
AbstractAlthough polygenic risk scores (PRSs) are expected to be helpful in precision medicine, it remains unclear whether high-PRS groups are more likely to benefit from preventive interventions for diseases. Recent methodological advancements enable us to predict treatment effects at the individual level. We employed causal forest to explore the relationship between PRSs and individual risk of diseases associated with certain environmental factors.
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Sep 3, 2024 | 
jnnp.bmj.com | Chris Kato |Satoru Morimoto |Shinichi Takahashi |Shinichi Namba
X @NambaShinichiContributors CK, SM and ST designed the study and acquired samples from patients. CK analysed the data and performed statistical analyses. CK, SM, ST, SN, QW, YO and HO contributed to the interpretation of the results. ST, SN, QW, YO and HO provided supervision. CK and SM wrote the manuscript, and all authors corrected the manuscript and collectively made the decision to submit for publication.
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Aug 15, 2024 | 
digitalcommons.library.tmc.edu | Ying Wang |Shinichi Namba |Esteban Lopera |Sini Kerminen
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However, few studies have thoroughly investigated their best practices in global populations across different diseases. We here utilized data from Global Biobank Meta-analysis Initiative (GBMI) to explore methodological considerations and PRS performance in 9 different biobanks for 14 disease endpoints. Specifically, we constructed PRSs using pruning and thresholding (P + T) and PRS-continuous shrinkage (CS).
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Jun 11, 2024 | 
nature.com | Shinichi Namba |Ken Suzuki |Kenichi Yamamoto |Kyuto Sonehara |Akira Narita |Yoichiro Kamatani | +3 more
AbstractType 2 diabetes (T2D) shows heterogeneous body mass index (BMI) sensitivity. Here, we performed stratification based on BMI to optimize predictions for BMI-related diseases. We obtained BMI-stratified datasets using data from more than 195,000 individuals (nT2D = 55,284) from BioBank Japan (BBJ) and UK Biobank. T2D heritability in the low-BMI group was greater than that in the high-BMI group.
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Mar 7, 2024 | 
medrxiv.org | Chris Kato |Satoru Morimoto |Shinichi Takahashi |Shinichi Namba
Hideyuki Okano reports grants and personal fees as a Chief Scientific Officer from K Pharma, Inc. during the conduct of the study; personal fees from Sanbio Co. Ltd., outside the submitted work; In addition, Hideyuki Okano has a patent on a therapeutic agent for amyotrophic lateral sclerosis and composition for treatment licensed to K Pharma, Inc. Q.S.W is currently an employee of Calico Life Science LLC. Involvement in the presented research was prior to the affiliation.
