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Nov 12, 2024 | 
nature.com | Yoshihiko Furuta |Masato Akiyama |Mao Shibata |Jun Hata |Chikashi Terao |Yukihide Momozawa | +5 more
AbstractThe genetic architecture of white matter lesions (WMLs) in Asian populations has not been well-characterized. Here, we performed a genome-wide association study (GWAS) to identify loci associated with the WML volume. Brain MRI and DNA samples were collected from 9479 participants in the Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD). The GWAS confirmed three known WML-associated loci (SH3PXD2A, GFAP, and TRIM47).
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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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Jun 12, 2024 | 
nature.com | Aoxing Liu |Giulio Genovese |Yajie Zhao |Matti Pirinen |Xiaoxi Liu |Bryan R. Gorman | +15 more
AbstractMosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of female individuals1,2, but little is known about its genetic determinants or phenotypic consequences. Here, to address this, we used data from 883,574 female participants across 8 biobanks; 12% of participants exhibited detectable mLOX in approximately 2% of leukocytes. Female participants with mLOX had an increased risk of myeloid and lymphoid leukaemias.
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May 19, 2024 | 
nature.com | Xiaoxi Liu |Yoshinao Koike |Keiko Hikino |Yukihide Momozawa |Kouichi Ozaki |Hirotaka Watada | +2 more
AbstractSarcopenia is a common skeletal muscle disease in older people. Lower limb muscle strength is a good predictive value for sarcopenia; however, little is known about its genetic components. Here, we conducted a genome-wide association study (GWAS) for knee extension strength in a total of 3452 Japanese aged 60 years or older from two independent cohorts.
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Mar 3, 2024 | 
onlinelibrary.wiley.com | Mayumi Kobayashi Kato |Yuka Asami |Yukihide Momozawa |Erisa Fujii
1 INTRODUCTION Lynch syndrome (LS), a common inherited disorder,1 is caused by pathogenic variants of DNA mismatch repair (MMR)-related genes such as MLH1, MSH2, MSH6, PMS2, and EPCAM.2 The MMR system is responsible for identifying and repairing errors generated during DNA replication.
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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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Sep 20, 2023 | 
nature.com | Yukihide Momozawa |Natsuko Chiba
AbstractNumerous variants of unknown significance (VUSs) exist in hereditary breast and ovarian cancers. Although multiple methods have been developed to assess the significance of BRCA1/2 variants, functional discrepancies among these approaches remain. Therefore, a comprehensive functional evaluation system for these variants should be established.
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Aug 23, 2023 | 
nature.com | Yuki Ishikawa |Rosalind A. Eeles |Yoshinao Koike |Keiko Hikino |Momoko Horikoshi |Kaoru Ito | +4 more
AbstractProstate cancer (PrCa) is the second most common cancer worldwide in males. While strongly warranted, the prediction of mortality risk due to PrCa, especially before its development, is challenging.
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Aug 2, 2023 | 
onlinelibrary.wiley.com | Yukihide Momozawa |Yoshiaki Usui
3.3 Optimization of target individuals benefit from genetic testing In the United States Consensus Conference, germline testing has been expanding for metastatic prostate cancer or for all patients with a personal history of breast cancer.65, 66 These expansions might be extended to individuals unaffected by the disease.
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May 11, 2023 | 
nature.com | Shohei Kojima |Satoshi Koyama |Steven Heaton |Yoichiro Kamatani |Yasuhiro Murakawa |Kazuyoshi Ishigaki | +6 more
AbstractMobile genetic elements (MEs) are heritable mutagens that recursively generate structural variants (SVs). ME variants (MEVs) are difficult to genotype and integrate in statistical genetics, obscuring their impact on genome diversification and traits. We developed a tool that accurately genotypes MEVs using short-read whole-genome sequencing (WGS) and applied it to global human populations.
