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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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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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Aug 29, 2024 | 
nature.com | Ikuo Otsuka |Toshiyuki Shirai |Xiaoxi Liu |Yoichiro Kamatani |Chikashi Terao
AbstractMosaic chromosomal alterations (mCAs) are classified as mosaic deletions (loss), copy-neutral loss of heterozygosity (CN-LOH), and duplications (gain), attracting special attention as biological aging-related acquired genetic alterations. While these mCAs have been linked with aging and various diseases, no study has investigated their association with suicide risk which is associated with abnormal biological aging.
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Jun 18, 2024 | 
jamanetwork.com | Keiko Hikino |Yokohama City |Kaoru Ito |Chikashi Terao
Key PointsQuestion
Can the first large-scale genome-wide association studies of vasospastic angina (VSA) identify risk for VSA? Findings
A genome-wide association study including 5720 cases and 153 864 controls was performed using a large sample size and a nationwide, multicohort study.
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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 | Marios K. Georgakis |Yunye He |Masaru Koido |Chikashi Terao
AbstractGenetic variants in HTRA1 are associated with stroke risk. However, the mechanisms mediating this remain largely unknown, as does the full spectrum of phenotypes associated with genetic variation in HTRA1. Here we show that rare HTRA1 variants are linked to ischemic stroke in the UK Biobank and BioBank Japan.
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May 9, 2024 | 
nature.com | Masaru Koido |Chikashi Terao
AbstractCell-type-specific regulatory elements, cataloged through extensive experiments and bioinformatics in large-scale consortiums, have enabled enrichment analyses of genetic associations that primarily utilize positional information of the regulatory elements. These analyses have identified cell types and pathways genetically associated with human complex traits.
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Mar 28, 2024 | 
nature.com | Robert E. Handsaker |Maxwell A. Sherman |Nolan Kamitaki |Alison R. Barton |Chikashi Terao
AbstractCopy number variants (CNVs) are among the largest genetic variants, yet CNVs have not been effectively ascertained in most genetic association studies. Here we ascertained protein-altering CNVs from UK Biobank whole-exome sequencing data (n = 468,570) using haplotype-informed methods capable of detecting subexonic CNVs and variation within segmental duplications.
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Oct 4, 2023 | 
nature.com | Ashley Budu-Aggrey |Anna Kilanowski |Maria K Sobczyk |Suyash Shringarpure |Ruth E. Mitchell |Kadri Reis | +68 more
AbstractAtopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data.
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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.
