A5078716608- Genetic Associations and Epidemiology
- Endometrial and Cervical Cancer Treatments
- Cancer Genomics and Diagnostics
- Cancer-related molecular mechanisms research
- Cervical Cancer and HPV Research
- BRCA gene mutations in cancer
- Neonatal Respiratory Health Research
- Congenital Diaphragmatic Hernia Studies
- Nutrition, Genetics, and Disease
- Neuroblastoma Research and Treatments
- Cancer, Lipids, and Metabolism
- Ovarian cancer diagnosis and treatment
- Chromatin Remodeling and Cancer
- T-cell and B-cell Immunology
- Reproductive System and Pregnancy
- Immune Cell Function and Interaction
- Ectopic Pregnancy Diagnosis and Management
- Economic and Financial Impacts of Cancer
- Neuroendocrine Tumor Research Advances
- Epigenetics and DNA Methylation
- Hernia repair and management
- Health Systems, Economic Evaluations, Quality of Life
- Virus-based gene therapy research
- Genomics and Rare Diseases
- Respiratory viral infections research
Osaka University
2017-2025
Soka University
2023-2024
Osaka Prefectural Medical Center
2016
Osaka University Hospital
2016
Inuyama Chuo Hospital
2013
Autoimmune and allergic diseases are outcomes of the dysregulation immune system. Our study aimed to elucidate differences or shared components in genetic backgrounds between autoimmune diseases.
We performed genome-wide association studies of five gynecologic diseases using data 46,837 subjects (5236 uterine fibroid, 645 endometriosis, 647 ovarian cancer (OC), 909 endometrial (UEC), and 538 cervical (UCC) cases allowing overlaps, 39,556 shared female controls) from Biobank Japan Project. used the population-specific imputation reference panel (n = 3541), yielding 7,645,193 imputed variants. Analyses under logistic model, linear mixed model incorporating correlations identified nine...
Abstract Pulmonary alveolar proteinosis (PAP) is a devastating lung disease caused by abnormal surfactant homeostasis, with prevalence of 6–7 cases per million population worldwide. While mutations causing hereditary PAP have been reported, the genetic basis contributing to autoimmune (aPAP) has not thoroughly investigated. Here, we conducted genome-wide association study aPAP in 198 patients and 395 control participants Japanese ancestry. The common variant, rs138024423 at 6p21,...
MicroRNAs (miRNAs) modulate the post-transcriptional regulation of target genes and are related to biology complex human traits, but genetic landscape miRNAs remains largely unknown. Given strikingly tissue-specific miRNA expression profiles, we here expand a previous method quantitatively evaluate enrichment genome-wide association study (GWAS) signals on miRNA-target gene networks (MIGWAS) further estimate enrichment. Our approach integrates profiles (∼1800 in 179 cells) with GWAS test...
While microbiome plays key roles in the etiology of multiple sclerosis (MS), its mechanism remains elusive. Here, we conducted a comprehensive metagenome-wide association study (MWAS) relapsing-remitting MS gut ( n case = 26, control 77) Japanese population, by using whole-genome shotgun sequencing. Our MWAS consisted three major bioinformatic analytic pipelines (phylogenetic analysis, functional gene and pathway analysis). Phylogenetic case-control tests showed discrepancies eight clades,...
Introduction: Endometrial cancer (EC) is the most common gynecological cancer. While multidisciplinary therapy including surgery and chemotherapy improves prognosis, that of refractory cases remains poor. In this study, we aimed to investigate new treatment target predictive marker for EC using comprehensive protein analysis TCGA genomic data. Materials Methods: We performed iTRAQ-based tissue samples before treatment, compared expression data responsive cases. To evaluate function...
Abstract [Objective] Small cell neuroendocrine carcinoma of the uterine cervix (SCNEC) is a rare cancer with poor prognosis, highlighting pressing need for effective pharmacotherapies. Our previous proteomic analysis identified vaccinia-related kinase 1 (VRK1) as one proteins highly expressed in SCNEC compared to squamous (SCC) and adenocarcinoma (AC). VRK1 member VRK family Ser-Thr kinases, its overexpression associated prognosis various cancers. It also expected be potential...
Abstract Objective: We previously reported that lipoprotein promoted cell proliferation of epithelial ovarian cancer (EOC) cells in vitro. Moreover, we demonstrated High-Fat Diet (HFD) strongly the tumor growth EOC vivo and HFD mouse serum These results suggest lipid molecules derived from contribute to EOC. In this study, aimed identify which by metabolomics figure out function molecule. Methods: obtained normal diet (ND) fed performed vitro, validated promote analyzed signaling pathway was...
Causal inference is one of the challenges in epidemiologic studies. Gynecologic diseases have been reported to association with obesity, however causality remained controversial except for uterine endometrial cancer. We conducted two-sample Mendelian randomization (MR) analysis using large-scale genome-wide study (GWAS) results gynecologic and body mass index (BMI) Japanese population assess causal effect BMI on diseases. first GWAS ovarian cancer, cervical endometriosis, fibroid (n = 647,...
Psoriasis is an immune-mediated skin disease for which the crosstalk between genetic and environmental factors responsible. To date, no definitive diagnostic criteria psoriasis yet, specific biomarkers are required.We performed metabolome analysis to identify metabolite of its subtypes such as psoriatic arthritis (PsA) cutaneous (PsC).We constructed metabolomics profiling 130 plasma samples (42 PsA patients, 50 PsC 38 healthy controls) using a nontargeted approach.Psoriasis-control...
Abstract Aggregation of genome-wide common risk variants, such as polygenic score (PRS), can measure genetic susceptibility to cancer. A better understanding how germline variants associate with somatic alterations and clinical features could facilitate personalized cancer prevention early detection. We constructed PRSs from 14 association studies (median n = 64,905) for 12 types by multiple methods calibrated them using the UK Biobank resources (n 335,048). Meta-analyses across in The...
The retained products of conception (RPOC) and related conditions (RPOC-ARC) are the main cause secondary postpartum hemorrhage (sPPH), but there is no clear consensus for their management. purpose this study was to characterize those RPOC-ARC that require invasive treatment could be managed more conservatively.We retrospectively analyzed 96 cases occurred after miscarriage, abortion, or delivery at a gestational age between 12 42 completed weeks, were within our institution from May 2015...
Novel biomarkers of rheumatoid arthritis (RA), in addition to antibodies against cyclic citrullinated peptides, are required. Metabolome analysis is a promising approach identify metabolite for clinical diagnosis. We adopted comprehensive non-targeted metabolomics combining capillary electrophoresis time-of-flight mass spectrometry (TOFMS) and liquid chromatography TOFMS. constructed profiling 286 plasma samples Japanese population [92 RA patients, 13 systemic lupus erythematosus (SLE)...
The trend for cervical cancer in younger women has been increasing recently Japan. However, as a result of the suspension governmental recommendation, Japan’s HPV (human papillomavirus) vaccination rate girls born since 2000 dropped sharply. We conducted an internet survey December 2019, 76 months after to verify intention mothers inoculate their daughter under current circumstances and compared with our previous surveys leaflet intervention effect. rates who replied that they would...
In Japan, the age-adjusted incidence of cervical cancer has been increasing constantly and rapidly among younger women. We set out to accurately confirm effectiveness HPV vaccine in Japan. Data were collected for women born fiscal year (FY) 1990 1997, who became eligible their 20-y-old screening between FY 2010 2017. The adjusted intraepithelial neoplasia (CIN)1+ 1993, that is those reached national vaccination target age prior introduction publicly subsidized vaccinations, referred here...
<h3>Importance</h3> Understanding the genetic contribution of major histocompatibility complex (MHC) region to risk cervical cancer (CC) will help understand how immune responses infection with human papillomaviruses are associated CC. <h3>Objective</h3> To determine whether HLA-B*52:01 allele is CC in Japanese women. <h3>Design, Setting, and Participants</h3> This was a multicenter association study. Genotype phenotype data were obtained from BioBank Japan Project. Additional patients...
Endometrial cancer (EC) is a common gynecologic malignancy and patients with advanced recurrent EC have poor prognosis. Although chemotherapy administered for those patients, the efficacy of current limited. Therefore, it necessary to develop novel therapeutic agents EC. In this study, we focused on lipolysis-stimulated lipoprotein receptor (LSR), membrane protein highly expressed in cells, developed chimeric chicken-mouse anti-LSR monoclonal antibody (mAb). This study investigated antitumor...
Abstract Objective: Small cell neuroendocrine carcinoma of the uterine cervix (SCNEC) is extremely rare but highly aggressive and its prognosis usually poor. Vaccinia-related kinase (VRK)1 a serine/threonine protein that involved in proliferation by regulating cell-cycle progression inducing arrest response to stress signals. VRK2 belongs same family as VRK1, they are paralogs. VRK1 has been reported potential therapeutic target nervous system tumors with low expression. Previously, we...
Abstract Preterm birth is a serious pregnancy complication that affects neonatal mortality, morbidity, and long-term neurological prognosis. Predicting spontaneous preterm delivery (PTD) important for its management. While excluding the risk of PTD important, identifying women at high imperative medical intervention. Currently used prediction parameters in clinical practice have shown negative predictive values, but low positive values. We focused on sulfated sialylated glycocalyx changes...
Abstract Monozygotic (MZ) twins originate from a single fertilized egg, making them genetically identical at the time of conception. However, postzygotic somatic mutations (PZMs) can introduce genetic differences after separation. Although whole-genome sequencing (WGS) sheds light on in cancer genomics, its application genomic studies MZ remains limited. In this study, we investigate PZMs 30 healthy twin pairs Osaka University Center for Twin Research using WGS (average depth = 23.8) and...