A5049434997- Cardiovascular Disease and Adiposity
- Adipose Tissue and Metabolism
- Adipokines, Inflammation, and Metabolic Diseases
- Genetic Associations and Epidemiology
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Nuclear Structure and Function
- Single-cell and spatial transcriptomics
- Cardiovascular Function and Risk Factors
- Body Composition Measurement Techniques
- Nutrition and Health in Aging
- Genetic and phenotypic traits in livestock
- Probiotics and Fermented Foods
- Cardiovascular Health and Risk Factors
- Antimicrobial Resistance in Staphylococcus
- Lipoproteins and Cardiovascular Health
- Liver Disease Diagnosis and Treatment
- Nutritional Studies and Diet
- Chronic Disease Management Strategies
- Streptococcal Infections and Treatments
- Fatty Acid Research and Health
- Hippo pathway signaling and YAP/TAZ
- Electrolyte and hormonal disorders
- Escherichia coli research studies
- Acute Myocardial Infarction Research
- Cardiomyopathy and Myosin Studies
Massachusetts General Hospital
2021-2025
Harvard University
2021-2025
Northwestern University
2020-2024
Broad Institute
2021-2024
Brigham and Women's Hospital
2024
Abstract Identification of individuals at highest risk coronary artery disease (CAD)—ideally before onset—remains an important public health need. Prior studies have developed genome-wide polygenic scores to enable stratification, reflecting the substantial inherited component CAD risk. Here we develop a new and significantly improved score for CAD, termed GPS Mult , that incorporates association data across five ancestries (>269,000 cases >1,178,000 controls) ten factors. strongly...
For any given level of overall adiposity, individuals vary considerably in fat distribution. The inherited basis distribution the general population is not fully understood. Here, we study up to 38,965 UK Biobank participants with MRI-derived visceral (VAT), abdominal subcutaneous (ASAT), and gluteofemoral (GFAT) adipose tissue volumes. Because these depot volumes are highly correlated BMI, additionally six local adiposity traits: VAT adjusted for BMI height (VATadj), ASATadj, GFATadj,...
For any given body mass index (BMI), individuals vary substantially in fat distribution, and this variation may have important implications for cardiometabolic risk. Here, we study disease associations with BMI-independent visceral (VAT), abdominal subcutaneous (ASAT), gluteofemoral (GFAT) depots 40,032 of the UK Biobank MRI. We apply deep learning models based on two-dimensional MRI projections to enable near-perfect estimation depot volumes (R
A primary obstacle in translating genetic associations with disease into therapeutic strategies is elucidating the cellular programs affected by risk variants and effector genes. Here, we introduce LipocyteProfiler, a cardiometabolic-disease-oriented high-content image-based profiling tool that enables evaluation of thousands morphological profiles can be systematically linked to genes relevant cardiometabolic disease. We show LipocyteProfiler allows surveillance diverse generating rich...
Familial partial lipodystrophy (FPLD) is a heterogenous group of syndromes associated with high prevalence cardiometabolic diseases. Prior work has proposed DEXA-derived fat mass ratio (FMR), defined as trunk percentage divided by leg percentage, biomarker FPLD, but this metric not previously been characterized in large cohort studies. We set out to 1) understand the burden individuals FMR up 40,796 participants UK Biobank and 9,408 Fenland study, 2) characterize common variant genetic...
Summary Background Genetic factors contribute to the risk and severity of metabolic dysfunction‐associated steatotic liver disease (MASLD). However, utility genetic testing in stratification remains poorly characterised. Aims To examine influence on advanced fibrosis cirrhosis patients with type 2 diabetes mellitus (T2DM) a polygenic score (PRS) screening guidelines. Methods We prospectively enrolled adults aged ≥50 years T2DM recruited from clinics. PRS was sum alleles PNPLA3 , TM6SF2...
Current cardiovascular risk assessment tools use a small number of predictors. Here, we study how machine learning might: (1) enable principled selection from large multimodal set candidate variables and (2) improve prediction incident coronary artery disease (CAD) events. An elastic net-based Cox model (ML4HEN-COX) trained evaluated in 173,274 UK Biobank participants selected 51 predictors 13,782 candidates. Beyond most traditional factors, ML4HEN-COX polygenic score, waist circumference,...
ABSTRACT Background The clinical implications of BMI-independent variation in fat distribution are not fully understood. Methods We studied MRI imaging data 40,032 UK Biobank participants. Using previously quantified visceral (VAT), abdominal subcutaneous (ASAT), and gluteofemoral (GFAT) adipose tissue volume up to 9,041 train convolutional neural networks (CNNs), we these depots the remainder derived new metrics for each depot – independent BMI by quantifying deviation from values predicted...
Abstract Inter-individual variation in fat distribution is increasingly recognized as clinically important but not routinely assessed clinical practice, part because medical imaging has been practical to deploy at scale for this task. Here, we report a deep learning model trained on an individual’s body shape outline—or “silhouette” —that enables accurate estimation of specific depots interest, including visceral (VAT), abdominal subcutaneous (ASAT), and gluteofemoral (GFAT) adipose tissue...
Precise dosing of warfarin is important to achieve therapeutic benefit without adverse effects. Pharmacogenomics explains some interindividual variability in response, but less attention has been paid drug‐drug interactions the context genetic factors. We investigated retrospectively combined effects cytochrome P450 ( CYP ) 2C9 and vitamin K epoxide reductase complex VKORC 1 genotypes concurrent exposure CYP2C9‐interacting drugs on long‐term measures anticoagulation. Study participants...
<p dir="ltr">Familial partial lipodystrophy (FPLD) is a heterogenous group of syndromes associated with high prevalence cardiometabolic diseases. Prior work has proposed DEXA-derived fat mass ratio (FMR) – defined as trunk percentage (trunk %) divided by leg (leg biomarker FPLD, but this metric not previously been characterized in large cohort studies. We set out to (1) understand the burden individuals FMR up 40,796 participants UK Biobank and 9,408 Fenland study, (2) characterize...
Brief summary: Emont et al. created a cell atlas of human and mouse white adipose tissue, which goes long way in informing our understanding the complexity tissue.
Lactobacillus species may translocate from the gastrointestinal tract into systemic circulation ingested probiotics or commensal flora. Their pathogenic potential is still debated. endocarditis a rare entity with only around 120 cases reported in literature. Here, we report first case of fatal involvement transcatheter aortic valve replacement following goals: to reaffirm pathological significance spp, demonstrate limitations modified Duke criteria diagnosing infective replacement, and urge...
ABSTRACT For any given level of overall adiposity – as commonly quantified by body mass index (BMI) within clinical practice individuals vary considerably in fat distribution. We and others have noted that increased visceral (VAT) is associated with cardiometabolic risk, while gluteofemoral (GFAT) may be protective. Familial partial lipodystrophy (FPLD) often caused rare variants the LMNA gene represents an extreme example this paradigm, leading to a severe shift subsequent insulin...
<p dir="ltr">Familial partial lipodystrophy (FPLD) is a heterogenous group of syndromes associated with high prevalence cardiometabolic diseases. Prior work has proposed DEXA-derived fat mass ratio (FMR) – defined as trunk percentage (trunk %) divided by leg (leg biomarker FPLD, but this metric not previously been characterized in large cohort studies. We set out to (1) understand the burden individuals FMR up 40,796 participants UK Biobank and 9,408 Fenland study, (2) characterize...
Lacticaseibacillus (formerly Lactobacillus) rhamnosus is widely used in probiotics or food supplements to promote microbiome health and may also be part of the normal microbiota human gastrointestinal tract. However, it rarely causes invasive severe infections patients. It has been postulated that these originate from endogenous commensal reservoirs. In this report, we examine population structure investigate utility using bacterial genomics identify source infections.
Background: Distribution patterns for visceral (VAT), abdominal subcutaneous (ASAT), and gluteofemoral (GFAT) adipose tissue are strongly associated with cardiovascular disease. Circulating metabolites proteins dynamic indicators of biological processes reflect metabolic health. It is not yet clear how these analytes adiposity distribution patterns. Aims: To determine the multi-omic profiles their metabolomic proteomic measurements. Methods: MRI-derived volumes VAT, ASAT, GFAT adjusted BMI...
Abstract Accurate stratification of coronary artery disease (CAD) risk remains a critical need. A new polygenic score (GPS Mult ) incorporates CAD genome-wide association data across five ancestries (>269,000 cases, >1,178,000 controls) with genetic for ten factors. GPS associates an OR/SD 2.14, (95%CI:2.10-2.19,P<0.001) prevalent and HR/SD 1.73 (95%CI 1.70-1.76,P<0.001) incident CAD. When compared the previously published 2018 in external datasets, demonstrated 73%, 46%, 113%...