A5079410677- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Cancer-related molecular mechanisms research
- Retinal Diseases and Treatments
- Pregnancy and preeclampsia studies
- Bioinformatics and Genomic Networks
- Alzheimer's disease research and treatments
- Epigenetics and DNA Methylation
- Hormonal Regulation and Hypertension
- Liver Disease Diagnosis and Treatment
- Glaucoma and retinal disorders
- Gene expression and cancer classification
- Birth, Development, and Health
- Neurological Disease Mechanisms and Treatments
- Parathyroid Disorders and Treatments
- Peroxisome Proliferator-Activated Receptors
- Gestational Diabetes Research and Management
- Ocular Oncology and Treatments
- Parkinson's Disease Mechanisms and Treatments
- Vitamin D Research Studies
- Bone health and osteoporosis research
- Stroke Rehabilitation and Recovery
- Cardiovascular Health and Disease Prevention
- Genomics and Rare Diseases
Harbor–UCLA Medical Center
2015-2025
UCLA Medical Center
2017-2025
People's Hospital of Xinjiang Uygur Autonomous Region
2012-2025
Shanghai East Hospital
2016-2025
Dongguan University of Technology
2024
Jichi Medical University
2024
Jichi Medical University Saitama Medical Center
2024
The Lundquist Institute
2015-2023
University of Auckland
2018-2023
Shanghai University
2023
Abstract Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these by analysis variants HumanExome BeadChip in 60,564 non-diabetic individuals 16,491 T2D cases 81,877 controls. We identify a novel association low-frequency nonsynonymous SNV GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG ( β =−0.09±0.01 mmol l −1 , P =3.4 × 10 −12 ), risk (OR[95%CI]=0.86[0.76–0.96], =0.010), early secretion (β =−0.07±0.035 pmol =0.048),...
Abstract Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes 1,2 and molecular mechanisms are often specific to cell type 3,4 . Here, characterize the genetic contribution these across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases T2D. We identify 1,289 independent signals at significance ( P < 5 × 10 −8 ) map 611 loci, which 145...
Mitochondria (MT), the major site of cellular energy production, are under dual genetic control by 37 mitochondrial DNA (mtDNA) genes and numerous nuclear (MT-nDNA). In CHARGEmtDNA+ Consortium, we studied associations mtDNA MT-nDNA with body mass index (BMI), waist-hip-ratio (WHR), glucose, insulin, HOMA-B, HOMA-IR, HbA1c. This 45-cohort collaboration comprised 70,775 (insulin) to 170,202 (BMI) pan-ancestry individuals. Validation imputation variants was followed single-variant gene-based...
What are the causal relationships between polycystic ovary syndrome (PCOS) and body mass index (BMI)?Bidirectional Mendelian randomization analyses suggest that increased BMI is for PCOS while reverse not case.The contribution of obesity to pathogenesis controversial. To date, published genetic studies addressing this question have generated conflicting results utilized full extent known single nucleotide polymorphisms associated with (BMI).This cross-sectional (MR) association study was...
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes. To characterise the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study (GWAS) data from 2,535,601 individuals (39.7% non-European ancestry), including 428,452 T2D cases. We identify 1,289 independent signals at significance (P<5×10 − 8 ) map 611 loci, of which 145 loci are previously unreported. define eight non-overlapping...
Potato early blight (PEB), a foliar disease of potato during the growing period, caused by Alternaria sp., is common in major potato-producing areas worldwide. Effective agents to control this or completely resistant varieties are absent. Large-scale use fungicides limited due possibility increase pathogen resistance and requirements ecological agriculture. In study, we focused on composition infection characteristics pathogens Yunnan Province screened candidate pathogenesis-related pathways...
Background: High cholesterol aggravates the risk development of Alzheimer's disease (AD). AD is closely related to transport impairment Amyloid-β (Aβ) in blood-brain barrier. It unclear whether high affects cognitive by affecting Aβ transport. The purpose study investigate regulates through low-density Lipoprotein Receptor-Related Protein 1 (LRP1) and Receptor for Advanced Glycation End products (RAGE) AD. Methods: We established mice model. learning memory functions were evaluated Morris...
Differential expression of non-coding RNA after traumatic spinal cord injury (TSCI) is closely related to the pathophysiological process. The purposes this study were systematically profile and characterize circular (circRNA) in lesion epicenter tissues TSCI, predict structure potential function regulatory circRNA/miRNA network. Forty-eight C57BL/6 mice randomly equally assigned two groups: one subjected TSCI at T8–10 with an Allen's drop impactor, a second laminectomy without TSCI. Spinal...
Abstract Dry eye disease (DED) is an inflammatory disorder in which CD4 + T cells play a significant role its pathogenesis. A cell subset termed granulocyte‐macrophage colony‐stimulating factor‐producing helper (ThGM) would contribute to DED However, the mechanisms by activity of ThGM modulated are not thoroughly understood. In this research, we characterized effects neurokinin 1 receptor (NK1R) and 2 (NK2R) on (Th1) murine model. We found that expressed NK1R NK2R, whereas Th1 predominantly...
This study aims to summarise the clinical characteristics of unilateral pulmonary vein atresia (UPVA) and compare differences between Chinese cases all published worldwide. We retrospectively enrolled 6 children with UPVA from January 2014 2024 at a single centre. reviewed their demographic data, symptoms, laboratory tests, imaging examinations, treatment prognosis describe features. Additionally, remaining 79 confirmed patients UPVA, as described in 52 references, were also summarised. is...
Insulin resistance and chronic inflammation are key elements in the pathogenesis of type 2 diabetes. We hypothesized that similar mechanisms could have a role development diabetic retinopathy (DR), an important microvascular complication Latinos with diabetes.A cross-sectional, family-based, observational cohort study.Latino subjects diabetes (n = 507), ascertained families via proband known duration 10 years or more and/or DR, were included.Serum adiponectin was measured insulin sensitivity...
Comprehensive catalogue of genes that drive tumor initiation and progression in cancer is key to advancing diagnostics, therapeutics treatment. Given the complexity cancer, far from complete yet. Increasing evidence shows driver exhibit consistent aberration patterns across multiple-omics tumors. In this study, we aim leverage complementary information encoded each omics data identify novel through an integrative framework. Specifically, integrated mutations, gene expression, DNA copy...
ABSTRACT We assembled an ancestrally diverse collection of genome-wide association studies type 2 diabetes (T2D) in 180,834 cases and 1,159,055 controls (48.9% non-European descent). identified 277 loci at significance ( p <5×10 -8 ), including 237 attaining a more stringent trans-ancestry threshold -9 which were delineated to 338 distinct signals. Trans-ancestry meta-regression offered substantial enhancements fine-mapping, with 58.6% associations precisely localised due population...
Identification of coding variant associations for complex diseases offers a direct route to biological insight, but is dependent on appropriate inference concerning the causal impact those variants disease risk. We aggregated data 81,412 type 2 diabetes (T2D) cases and 370,832 controls diverse ancestry, identifying 40 distinct association signals (at 38 loci) reaching significance ( p <2.2×10 −7 ). Of these, 16 represent novel mapping outside known genome-wide study (GWAS) signals. make...
Hispanic/Latinos have been underrepresented in genome-wide association studies (GWAS) for anthropometric traits despite their notable variability, ancestry proportions, and high burden of growth stunting overweight/obesity. To address this knowledge gap, we analyzed densely imputed genetic data a sample Hispanic/Latino adults to identify fine-map variants associated with body mass index (BMI), height, BMI-adjusted waist-to-hip ratio (WHRadjBMI). We conducted GWAS 18 studies/consortia as part...