Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.

To improve imputation quality for genome-wide association studies (GWAS) conducted on the Japanese population, we developed and evaluated four Japanese population-specific reference panels. These panels were constructed through the augmentation of the 1000 Genomes Project (1KG) panel using Japanese whole genome sequencing (WGS) data, with sample sizes ranging from 1 K to 7 K individuals enrolled through the Biobank Japan (BBJ) project, and sequencing depths ranging from 3× to 30×. Among these panels, an augmented reference panel comprising 7472 WGS samples of mixed depth (1KG+7K) exhibit the greatest improvement in imputation quality relative to the Trans-Omics for Precision Medicine (TOPMed) reference panel.

Blood cell traits and venous thromboembolism in East Asians: Observational and genetic evidence.

Previous studies have indicated that various blood cell traits are associated with a higher risk of venous thromboembolism (VTE). However, the causal relationship remains uncertain. We collected data from the China pulmonary thromboembolism registry study and the China pulmonary health study, using propensity score matching and two-sample Mendelian randomization analyses with summary statistics from genome-wide association studies of blood cell traits and VTE in the East Asian population.

Combination of laparoscopy and open technique in management of large extravesical urinary bladder leiomyoma; a case report.

Introduction And Importance: Leiomyoma is a rare benign bladder tumor, classified into intravesical, intramural and extravesical types according to the location. Because of the difficulty of accurate preoperative diagnosis, resection is performed in the majority of the cases.

Case Presentation: A 37-year-old Japanese man presented to the hospital with a chief complaint of abdominal swelling.

Metastasis of malignant melanoma to urinary tract: a case report.

Introduction: Metastasis of malignant melanoma to urinary tract is reported to be rare. According to retrospective analysis of a single center study, improvement of overall survival was observed in patients with metastasis to the gastrointestinal tract that had undergone metastasectomy with curative intent. However, there is no significant evidence regarding resection for metastasis to urinary tract.

RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction.

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.

Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization.

Background: Predictive performance of polygenic risk scores (PRS) varies across populations. To facilitate equitable clinical use, we developed PRS for coronary heart disease (CHD; PRS) for 5 genetic ancestry groups.

Methods: We derived ancestry-specific and multi-ancestry PRS based on pruning and thresholding (PRS) and ancestry-based continuous shrinkage priors (PRS) applied to summary statistics from the largest multi-ancestry genome-wide association study meta-analysis for CHD to date, including 1.

Use of the anterior prostatic urethral mucosa preservation technique during holmium laser enucleation of the prostate can reduce postoperative stress urinary incontinence.

Introduction: Holmium laser enucleation of the prostate (HoLEP) is an effective and safe surgery for patients with benign prostatic hyperplasia. However, some patients exhibit postoperative urinary incontinence. Here, we compared surgical outcomes and incidence of stress urinary incontinence between HoLEP with and without anterior prostatic urethral mucosa preservation (APUMP).

Epithelioid Angiomyolipoma with Tumor Thrombus into Inferior Vena Cava Presurgically Treated with Combination Therapy of Pembrolizumab and Axitinib: A Case Report.

Epithelioid angiomyolipoma (EAML) is a rare variant of AML with malignant potential. It is occasionally difficult to distinguish EAML from renal cell carcinoma (RCC) on imaging. A 72-year-old woman was admitted to our hospital for the treatment of a left renal tumor with relatively high blood flow and a tumor thrombus extending to the inferior vena cava, suggesting RCC.

The study of the efficiency of in vitro maturation of ovarian tissue oocytes in pediatric patients.

Purpose: Although recent in vitro maturation (IVM) studies in pediatric patients have demonstrated successful retrieval and maturation of oocytes, the studies included only a small number of premenarchal patients. In the present study, we examined the potential use of oocyte retrieval and maturation for pediatric patients who undergo ovarian tissue cryopreservation (OTC).

Methods: We retrospectively examined the clinical records of pediatric patients who underwent OTC at our institution between October 2015 and December 2022.

Significance and Influence of Suturing for Ovarian Tissue Transplantation.

The purpose of this animal study was to verify the effect of suturing on graft function in ovarian tissue transplantation. Ovaries from 2-week-old rats were transplanted orthotopically into the ovaries of 8-week-old female Wistar rats. The various transplantation methods used were insertion into the ovarian bursa without suturing (group A: control), suturing with a single 6-0 Vicryl stitch (group B: 6-0*1), suturing with a single 10-0 Vicryl stitch (group C: 10-0*1), and suturing with three 10-0 Vicryl stitches (group D: 10-0*3).

Androgen receptor binding sites enabling genetic prediction of mortality due to prostate cancer in cancer-free subjects.

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.

A Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization.

Background: Predictive performance of polygenic risk scores (PRS) varies across populations. To facilitate equitable clinical use, we developed PRS for coronary heart disease (PRS) for 5 genetic ancestry groups.

Methods: We derived ancestry-specific and multi-ancestry PRS based on pruning and thresholding (PRS) and continuous shrinkage priors (PRS) applied on summary statistics from the largest multi-ancestry genome-wide meta-analysis for CHD to date, including 1.

Clinical characteristics in patients with non-alcoholic steatohepatitis in Japan: a case-control study using a 5-year large-scale claims database.

Objectives: To examine the clinical characteristics of patients with non-alcoholic steatohepatitis (NASH) and associated comorbidities.

Design: A case-control study using the national health insurance and the long-term elderly health insurance claims database.

Setting: Eligible patients diagnosed with NASH (ICD-10 K-75.

Mobile element variation contributes to population-specific genome diversification, gene regulation and disease risk.

Mobile genetic elements (MEs) are heritable mutagens that recursively generate structural variants (SVs). ME variants (MEVs) are difficult to genotype and integrate in statistical genetics, obscuring their impact on genome diversification and traits. We developed a tool that accurately genotypes MEVs using short-read whole-genome sequencing (WGS) and applied it to global human populations.

Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.

Background: Known genetic causes of congenital heart disease (CHD) explain <40% of CHD cases, and interpreting the clinical significance of variants with uncertain functional impact remains challenging. We aim to improve diagnostic classification of variants in patients with CHD by assessing the impact of noncanonical splice region variants on RNA splicing.

Methods: We tested de novo variants from trio studies of 2649 CHD probands and their parents, as well as rare (allele frequency, <2×10) variants from 4472 CHD probands in the Pediatric Cardiac Genetics Consortium through a combined computational and in vitro approach.

Low-carbohydrate diets containing plant-derived fat but not animal-derived fat ameliorate heart failure.

Cardiovascular disease (CVD) is a global health burden in the world. Although low-carbohydrate diets (LCDs) have beneficial effects on CVD risk, their preventive effects remain elusive. We investigated whether LCDs ameliorate heart failure (HF) using a murine model of pressure overload.

Survey of understanding and awareness of fertility preservation in pediatric patients: Is conversation about fertility preservation unpleasant for pediatric patients?

Objective: To verify understanding and awareness of fertility preservation (FP) in pediatric patients undergoing FP treatments.

Methods: A questionnaire survey was conducted before and after explanation of fertility issues and FP treatments for patients 6-17 years old who visited or were hospitalized for the purpose of ovarian tissue cryopreservation (OTC) or oocyte cryopreservation (OC), or sperm cryopreservation between October 2018 and April 2022. This study was approved by the institutional review board at St.

Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.

Atrial fibrillation (AF) is a common cardiac arrhythmia resulting in increased risk of stroke. Despite highly heritable etiology, our understanding of the genetic architecture of AF remains incomplete. Here we performed a genome-wide association study in the Japanese population comprising 9,826 cases among 150,272 individuals and identified East Asian-specific rare variants associated with AF.

Predictive Utility of a Coronary Artery Disease Polygenic Risk Score in Primary Prevention.

Importance: The clinical utility of polygenic risk scores (PRS) for coronary artery disease (CAD) has not yet been established.

Objective: To investigate the ability of a CAD PRS to potentially guide statin initiation in primary prevention after accounting for age and clinical risk.

Design, Setting, And Participants: This was a longitudinal cohort study with enrollment starting on January 1, 2006, and ending on December 31, 2010, with data updated to mid-2021, using data from the UK Biobank, a long-term population study of UK citizens.