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Dec 10, 2024 | 
medrxiv.org | Takashi Shimoyama |Koichi Matsuda |Yoichiro Kamatani |Hiroki Yamaguchi
The authors have declared no competing interest. N/AThis work was supported by a Grant-in-Aid for Scientific Research (C) (21K07445) from Japan Society for the Promotion of Science (JSPS). I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.
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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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Oct 3, 2024 | 
nature.com | Satoshi Koyama |Xiaoxi Liu |Yoshinao Koike |Keiko Hikino |Masaru Koido |Wei Li | +13 more
AbstractHuman genetic variants are associated with many traits through largely unknown mechanisms. Here, combining approximately 260,000 Japanese study participants, a Japanese-specific genotype reference panel and statistical fine-mapping, we identified 4,423 significant loci across 63 quantitative traits, among which 601 were new, and 9,406 putatively causal variants.
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Sep 29, 2024 | 
nature.com | Masatoshi Matsunami |Minako Imamura |Xiaoxi Liu |Keiko Hikino |Koichi Matsuda |Chikashi Terao
AbstractPelvic organ prolapse (POP) affects approximately 40% of elderly women, characterized by the descent of the pelvic organs into the vaginal cavity. Here we present the results of a genome-wide association study (GWAS) for susceptibility to POP comprising 771 cases and 76,625 controls in the Japanese population.
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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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Jul 16, 2024 | 
nature.com | Kyuto Sonehara |Tatsuhiko Naito |Hiroyuki Yoshihara |Koichi Matsuda |Yukinori Okada
AbstractRecurrent pregnancy loss (RPL) is a major reproductive health issue with multifactorial causes, affecting 2.6% of all pregnancies worldwide. Nearly half of the RPL cases lack clinically identifiable causes (e.g., antiphospholipid syndrome, uterine anomalies, and parental chromosomal abnormalities), referred to as unexplained RPL (uRPL). Here, we perform a genome-wide association study focusing on uRPL in 1,728 cases and 24,315 female controls of Japanese ancestry.
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Jan 31, 2024 | 
nature.com | Yuki Ishikawa |Nao Tanaka |Mitsuteru Akahoshi |Takashi Matsushita |Akira Oka |Motohisa Yamamoto | +15 more
AbstractHere we report the largest Asian genome-wide association study (GWAS) for systemic sclerosis performed to date, based on data from Japanese subjects and comprising of 1428 cases and 112,599 controls. The lead SNP is in the FCGR/FCRL region, which shows a penetrating association in the Asian population, while a complete linkage disequilibrium SNP, rs10917688, is found in a cis-regulatory element for IRF8.
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Oct 2, 2023 | 
nature.com | Minta Thomas |Elisabeth Rosenthal |Lori C. Sakoda |Stephanie Schmit |Maria Timofeeva |Ceres Fernández-Rozadilla | +60 more
AbstractPolygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher risk to undertake targeted screening. However, current PRS using European ancestry data have sub-optimal performance in non-European ancestry populations, limiting their utility among these populations.
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Oct 2, 2023 | nature.com | Minta Thomas |Elisabeth Rosenthal |Lori C. Sakoda |Stephanie Schmit |Maria Timofeeva |Ceres Fernández-Rozadilla | +60 more
AbstractPolygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher risk to undertake targeted screening. However, current PRS using European ancestry data have sub-optimal performance in non-European ancestry populations, limiting their utility among these populations.
