Publications by authors named "Shuji Ito"

Article Synopsis
  • Human genetic variants influence various traits, but the underlying mechanisms are still largely unclear.
  • By studying around 260,000 Japanese participants and using a specific genotype reference panel, researchers identified over 4,400 significant genetic loci linked to 63 traits, with many being novel findings.
  • The study highlighted the role of noncoding variants, particularly in untranslated regions, and emphasized the importance of genetic research in diverse populations to uncover functional variants and their impacts.
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Sarcopenia, characterised by a decline in muscle mass and strength, affects the health of the elderly, leading to increased falls, hospitalisation, and mortality rates. Muscle quality, reflecting microscopic and macroscopic muscle changes, is a critical determinant of physical function. To utilise radiomic features extracted from magnetic resonance (MR) images to assess age-related changes in muscle quality, a dataset of 24 adults, divided into older (male/female: 6/6, 66-79 years) and younger (male/female: 6/6, 21-31 years) groups, was used to investigate the radiomics features of the dorsiflexor and plantar flexor muscles of the lower leg that are critical for mobility.

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Importance: Vasospastic angina (VSA) is vasospasm of the coronary artery and is particularly prevalent in East Asian populations. However, the specific genetic architecture for VSA at genome-wide levels is not fully understood.

Objective: To identify genetic factors associated with VSA.

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Sarcopenia 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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Article Synopsis
  • - We created a comprehensive whole-genome sequencing dataset called JEWEL, involving 3256 individuals from Japan, which uncovered unique genetic features absent in older microarray studies.
  • - Our analyses revealed a distinct genetic structure within the Japanese population, identifying them as having three main ancestral components and uncovering rare loss-of-function variants specific to certain genes.
  • - We also discovered 44 archaic genetic segments linked to complex traits, including a segment related to type 2 diabetes, and identified candidate genes that may have undergone recent natural selection, providing deeper insights into Japanese genetics.
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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 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. IRF8 is also a significant locus in European GWAS for systemic sclerosis, but rs10917688 only shows an association in the presence of the risk allele of IRF8 in the Japanese population.

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  • A recent study analyzed genetic data from over 156,000 prostate cancer cases and 788,000 controls from diverse populations, significantly increasing the representation of non-European participants.
  • Researchers identified 187 new genetic risk variants for prostate cancer, bringing the total to 451, enhancing understanding of genetic factors across different ancestries.
  • The developed genetic risk score (GRS) showed varying risk levels for prostate cancer among different ancestry groups, highlighting its potential for better risk assessment, especially in men of African descent.
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Article Synopsis
  • - The study analyzes genetic variations in two major Japanese subpopulations (Hondo and Ryukyu) using over 622,000 DNA markers from 20,366 individuals to understand natural selection patterns.
  • - Significant genetic signals were identified at various loci, including a new candidate locus (IKZF2) particularly in the Ryukyu subpopulation, and differing lead variants associated with health risks like narcolepsy and protective effects against type 1 diabetes.
  • - The research highlights distinct selection patterns in the ALDH2 gene and offers insights into the evolutionary pressures impacting these subpopulations over the last 20-150 generations.
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Prostate 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. Here, we address this issue by maximizing the statistical power of genetic data with multi-ancestry meta-analysis and focusing on binding sites of the androgen receptor (AR), which has a critical role in PrCa.

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  • Ossification of the posterior longitudinal ligament of the spine (OPLL) is a disease that can cause serious neurological issues, and its causes are not fully understood, particularly in relation to type 2 diabetes and high body mass index (BMI).
  • A comprehensive meta-analysis involving 22,016 Japanese individuals identified 14 significant genetic markers linked to OPLL, with 8 being newly discovered, and further analyses pointed to specific genes associated with the disease.
  • The research revealed that increased BMI and high bone mineral density could have a causal relationship with OPLL, and different subtypes of the disease were identified, particularly highlighting a strong correlation between BMI and thoracic OPLL.
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Background: Polygenic risk score (PRS) analysis is used to predict disease risk. Although PRS has been shown to have great potential in improving clinical care, PRS accuracy assessment has been mainly focused on European ancestry. This study aimed to develop an accurate genetic risk score for knee osteoarthritis (OA) using a multi-population PRS and leveraging a multi-trait PRS in the Japanese population.

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Nanodiamonds can be excellent quantum sensors for local magnetic field measurements. We demonstrate magnetic field imaging with high accuracy of 1.8 [Formula: see text]T combining nanodiamond ensemble (NDE) and machine learning without any physical models.

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  • Hypoxia in inflammatory conditions, like rheumatoid arthritis (RA), promotes bone resorption by enhancing the formation of osteoclasts, but the exact mechanisms linking hypoxia to osteoclastogenesis are not well understood.
  • This study investigates the role of the protein lysine-specific demethylase 1 (LSD1) in connecting inflammatory osteoclastogenesis and bone loss using both cell studies and experimental mouse models of arthritis.
  • The research finds that LSD1 expression is increased in RA patients and is crucial for osteoclast differentiation, revealing potential genetic pathways that link hypoxia to the accelerated bone erosion seen in inflammatory arthritis.
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Background: For treatment of advanced elbow osteochondritis dissecans (OCD), we have used surgical treatment. Although favorable treatment outcomes have been reported for centrally located OCD, treatment outcomes are generally questionable and the choice of surgical method is controversial for laterally located OCD. Our purpose was to evaluate the treatment outcomes based on lesion location.

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A 68-year-old Japanese man was monitored for chronic kidney disease (CKD), with unknown primary disease starting in 2014. His serum creatinine (sCr) was stable at ~ 2.5 mg/dL for ~ 2 years.

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Background: Esophageal verrucous carcinoma is a rare variant of esophageal squamous cell carcinoma. In most cases, verrucous carcinoma presents as an exophytic, slow-growing mass with an extensive superficial growth pattern. Symptoms often include an insidious onset of dysphagia resulting in weight loss.

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Sarcomatoid carcinoma of the urinary bladder is a rare entity, whose histogenesis and biological behavior remain controversial. The cytological literature on sarcomatoid carcinoma in voided urine is very scarce. Clinically, the diagnosis of this tumor can be made by computed tomography (CT), magnetic resonance imaging (MRI), cytology, and biopsy material.

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Aim: To determine factors predictive for esophageal varices in severe alcoholic disease (SAD).

Methods: Abdominal ultrasonography (US) was performed on 444 patients suffering from alcoholism. Forty-four patients found to have splenomegaly and/ or withering of the right liver lobe were defined as those with SAD.

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Intramolecular charge transfer in 5,15-bis(azulenylethynyl) substituted zinc(ii) porphyrin leads to a significant enhancement of two-photon absorption at near-IR region, which has been investigated by femtosecond Z-scan method.

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Background: Nonalcoholic fatty liver disease (NAFLD) includes both nonalcoholic fatty liver (FL) and nonalcoholic steatohepatitis (NASH). It has previously been reported that alcoholic hepatitis, which shows morphological findings similar to that of NASH, leads to the onset of endotoxinemia and to an increase in the production of tumor necrosis factor-alpha (TNF-alpha) and/or interleukin-1 (IL-1) from macrophages. Tumor necrosis factor-alpha and IL-1 induce strong expression of intercellular adhesion molecule-1 (ICAM-1) of the cell membranes of hepatocytes and/or sinusoidal endothelial cells, resulting in increased serum ICAM-1 levels in our previous study.

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Acrylamide (AAm) is formed from asparagine (Asn) and reducing sugar during cooking of foods at high temperature. We examined the formation of AAm in a model system using a glass fiber filter paper, and looked for suitable conditions for inhibiting AAm formation. In frying, the formation rate was about 10 times that in a moistureless oven.

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The neurohypophyseal peptide [Arg(8)]-vasopressin (AVP) exerts major physiological actions through three distinct receptor isoforms designated V1a, V1b, and V2. Among these three subtypes, the vasopressin V1b receptor is specifically expressed in pituitary corticotrophs and mediates the stimulatory effect of vasopressin on ACTH release. To investigate the functional roles of V1b receptor subtypes in vivo, gene targeting was used to create a mouse model lacking the V1b receptor gene (V1bR-/-).

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