Masaru Koido

Nov 1, 2024 | biorxiv.org | Masaru Koido |Akari Suzuki |Kohei Tomizuka |Soichiro Yoshino

AbstractOpen chromatin regions (OCRs) provide genome-wide DNA elements in a cell-type-specific manner at high resolution but do not always mark active regulatory regions, hampering pinpointing causal functional variants in genetic association studies. Here, we developed a new scoring system, CAMBUS (Chromatin Accessibility Mutation Burden Score), to find active and constraint OCRs via machine-learning predictions of OCRs from surrounding DNA sequences.

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.

Jul 23, 2024 | nature.com | Wei Gan |Robert Clarke |Masaru Koido |Masahiro Kanai |Yukinori Okada |Yoichiro Kamatani | +7 more

AbstractElevated blood pressure (BP) is major risk factor for cardiovascular diseases (CVD). Genome-wide association studies (GWAS) conducted predominantly in populations of European ancestry have identified >2,000 BP-associated loci, but other ancestries have been less well-studied. We conducted GWAS of systolic, diastolic, pulse, and mean arterial BP in 100,453 Chinese adults. We identified 128 non-overlapping loci associated with one or more BP traits, including 74 newly-reported associations.

Jun 17, 2024 | medrxiv.org | Yoichiro Kamatani |Biobank Japan |Naoki Kojima |Masaru Koido

Y.K. holds stock of Staten Co., Ltd. This research was supported by the Ministry of Education, Culture, Sports, Sciences and Technology (MEXT) of the Japanese government and the Japan Agency for Medical Research and Development (AMED) under grant nos. JP18km0605001/ JP23tm0624002 (the BioBank Japan project), JP223fa627011 (Y.K.), and JP23tm0524003 (Y.K.). I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

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.