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Nov 19, 2024 | 
onlinelibrary.wiley.com | Kyuto Sonehara |Yukinori Okada
eQTL expression QTL GCT germ cell tumor GWAS genome-wide association study IGCT intracranial GCT LD linkage disequilibrium miRNA microRNA molQTL molecular QTL pQTL protein QTL PRS polygenic risk score QTL quantitative trait loci SNP single nucleotide polymorphism TCGA The Cancer Genome Atlas TGCT testicular GCT TWAS transcriptome-wide association study 1 INTRODUCTION Cancer has heritable components, as evidenced by epidemiological studies.1, 2 In the 1980–1990s, studies using candidate gene...
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Nov 5, 2024 | 
nature.com | Tanya J. Major |Riku Takei |Yuya Shirai |Wei Qing Wang |Murray Cadzow |Amanda Phipps-Green | +35 more
Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01921-5. Published online 15 October 2024. In the version of the article originally published, there were errors in the consortium lists at the end of the paper. Maureen Rischmueller, Hyon K. Choi, Masahiro Nakatochi, Jeff N. Miner, Daniel H. Solomon, Kathleen M. Giacomini and Deanna J. Brackman were erroneously listed as members of the Japan Gout Genomics Consortium.
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Oct 15, 2024 | 
nature.com | Tanya J. Major |Riku Takei |Yuya Shirai |Wei Qing Wang |Murray Cadzow |Amanda Phipps-Green | +35 more
AbstractGout is a chronic disease that is caused by an innate immune response to deposited monosodium urate crystals in the setting of hyperuricemia. Here, we provide insights into the molecular mechanism of the poorly understood inflammatory component of gout from a genome-wide association study (GWAS) of 2.6 million people, including 120,295 people with prevalent gout. We detected 377 loci and 410 genetically independent signals (149 previously unreported loci in urate and gout).
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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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Aug 22, 2024 | 
nature.com | Maho Hamasaki |Tadashi Yamamuro |Tatsuya Kaminishi |Satoshi Oikawa |Yoko Tanaka |Keisuke Tabata | +4 more
AbstractCells release intraluminal vesicles in multivesicular bodies as exosomes to communicate with other cells. Although recent studies suggest an intimate link between exosome biogenesis and autophagy, the detailed mechanism is not fully understood. Here we employed comprehensive RNA interference screening for autophagy-related factors and discovered that Rubicon, a negative regulator of autophagy, is essential for exosome release.
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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.
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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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Apr 12, 2024 | 
onlinelibrary.wiley.com | Yukinori Okada |Takeharu Kiso |Satoru Kawata |Kouta Shichiji
DATA AVAILABILITY STATEMENT The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
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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.
