-
Article
Open AccessLong-read sequencing for 29 immune cell subsets reveals disease-linked isoforms
Alternative splicing events are a major causal mechanism for complex traits, but they have been understudied due to the limitation of short-read sequencing. Here, we generate a full-length isoform annotation o...
-
Article
Open AccessGWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region
Here 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 ...
-
Article
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-ancestry genetic research of RA promises to improve power to detect genetic signals, fine-map** resolution and per...
-
Article
Open AccessSplicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci
Splicing quantitative trait loci (sQTLs) are one of the major causal mechanisms in genome-wide association study (GWAS) loci, but their role in disease pathogenesis is poorly understood. One reason is the comp...
-
Article
Effects of Cough Training and Inspiratory Muscle Training on Cough Strength in Older Adults: A Randomized Controlled Trial
While the need for preventive strategies to reduce the incidence of aspiration pneumonia has been indicated, it is also important to investigate effective training methods to improve cough function, which is a...
-
Article
Cap analysis of gene expression (CAGE) and noncoding regulatory elements
Cap analysis of gene expression (CAGE) was developed to detect the 5′ end of RNA. Trap** of the RNA 5′-cap structure enables the enrichment and selective sequencing of complete transcripts. Upscaled high-thr...
-
Article
A cross-population atlas of genetic associations for 220 human phenotypes
Current genome-wide association studies do not yet capture sufficient diversity in populations and scope of phenotypes. To expand an atlas of genetic associations in non-European populations, we conducted 220 ...
-
Article
Chromosomal alterations among age-related haematopoietic clones in Japan
The extent to which the biology of oncogenesis and ageing are shaped by factors that distinguish human populations is unknown. Haematopoietic clones with acquired mutations become common with advancing age and...
-
Article
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
The overwhelming majority of participants in current genetic studies are of European ancestry. To elucidate disease biology in the East Asian population, we conducted a genome-wide association study (GWAS) wit...
-
Chapter and Conference Paper
Evaluation of Condition and Damage in Reinforced Concrete by Elastic Wave Method
In this study acoustic emission and ultrasonic testing were applied to evaluate cracking induced rebar corrosion. It is clarified that AE activity becomes high and wave velocity detected by ultrasonic testing ...
-
Chapter
Genetic and Functional Genetics of Autoimmune Diseases
The majority of autoimmune diseases are multi-factorial diseases that develop through the interaction of several factors, such as genetic and environmental factors. A limited number of disease susceptibility g...
-
Article
Open AccessTranscriptome analysis of peripheral blood from patients with rheumatoid arthritis: a systematic review
In the era of precision medicine, transcriptome analysis of whole gene expression is an essential technology. While DNA microarray has a limited dynamic range and a problem of background hybridization, RNA seq...
-
Article
Macrophage extracellular trap formation promoted by platelet activation is a key mediator of rhabdomyolysis-induced acute kidney injury
Platelet activation after muscle trauma promotes extracellular trap release by macrophages and acute kidney injury.
-
Article
Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis
Yuta Kochi and colleagues perform expression quantitative trait loci (eQTL) analysis on five subsets of immune cells individually sorted from blood from 105 individuals. They develop an integrated analysis pip...
-
Article
Open AccessImmunophenoty** of rheumatoid arthritis reveals a linkage between HLA-DRB1 genotype, CXCR4 expression on memory CD4+ T cells and disease activity
Rheumatoid arthritis (RA) is a chronic autoimmune inflammatory disease that leads to destructive arthritis. Although the HLA class II locus is the strongest genetic risk factor for rheumatoid arthritis, the re...
-
Article
Open AccessDecreased severity of experimental autoimmune arthritis in peptidylarginine deiminase type 4 knockout mice
Peptidylarginine deiminase type 4 (PADI4) has been identified as a susceptibility gene for rheumatoid arthritis (RA) by genome-wide association studies. PADI4 is highly expressed in the bone marrow, macrophage...
-
Article
Open AccessEAF2 mediates germinal centre B-cell apoptosis to suppress excessive immune responses and prevent autoimmunity
Regulated apoptosis of germinal centre (GC) B cells is critical for normal humoral immune responses. ELL-associated factor 2 (EAF2) regulates transcription elongation and has been shown to be an androgen-respo...
-
Article
High-density genoty** of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry
Swapan Nath, Sang-Cheol Bae and colleagues report the results of a large-scale association study of systemic lupus erythematosus in individuals of Asian ancestry. They identify several new susceptibility loci ...
-
Article
Open AccessPeptidylarginine deiminase type 4 deficiency reduced arthritis severity in a glucose-6-phosphate isomerase-induced arthritis model
Peptidyl arginine deiminase 4 (PAD4) is an enzyme that is involved in protein citrullination and is a target for anti-citrullinated peptide antibodies (ACPAs) in rheumatoid arthritis (RA). Genetic polymorphism...
-
Article
Genetics of rheumatoid arthritis in Asia—present and future
Genetic factors play an important part in the disease heterogeneity observed in patients with rheumatoid arthritis (RA). Genome-wide association studies (GWAS) have linked common single-nucleotide polymorphism...
