A5061113765- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Epigenetics and DNA Methylation
- Hemophilia Treatment and Research
- Obesity, Physical Activity, Diet
- Lipoproteins and Cardiovascular Health
- Nutrition, Genetics, and Disease
- Genetic and phenotypic traits in livestock
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Bioinformatics and Genomic Networks
- Cardiovascular Health and Risk Factors
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Birth, Development, and Health
- Cholesterol and Lipid Metabolism
- Lipid metabolism and disorders
- Genetics and Physical Performance
- Alcohol Consumption and Health Effects
- Chronic Myeloid Leukemia Treatments
- Cardiovascular Disease and Adiposity
- Diet, Metabolism, and Disease
- Sleep and related disorders
- Bone health and osteoporosis research
- Platelet Disorders and Treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genomics and Rare Diseases
Boston University
2016-2025
Framingham Heart Study
2019-2025
National Heart Lung and Blood Institute
2019-2025
Statistical Research (United States)
2024
Background Elevated plasma levels of direct low-density lipoprotein cholesterol (LDL-C), small dense LDL-C (sdLDL-C), (LDL) triglycerides, triglyceride-rich cholesterol, remnant particle and lipoprotein(a) have all been associated with incident atherosclerotic cardiovascular disease (ASCVD). Our goal was to assess which parameters were most strongly ASCVD risk. Methods Results Plasma total high-density LDL-C, sdLDL-C, LDL measured using standardized automated analysis (coefficients...
Abstract Both short and long sleep are associated with an adverse lipid profile, likely through different biological pathways. To elucidate the biology of sleep-associated we conduct multi-ancestry genome-wide sleep-SNP interaction analyses on three traits (HDL-c, LDL-c triglycerides). In total study sample (discovery + replication) 126,926 individuals from 5 ancestry groups, when considering either or time interactions in joint analyses, identify 49 previously unreported loci, 10 additional...
ABSTRACT Obesity has been traditionally considered to protect the skeleton against osteoporosis and fracture. Recently, body fat, specifically visceral adipose tissue (VAT), associated with lower bone mineral density (BMD) increased risk for some types of fractures. We studied VAT microarchitecture in 710 participants (58% women, age 61.3 ± 7.7 years) from Framingham Offspring cohort determine whether cortical trabecular BMD differ according amount VAT. was measured CT imaging abdomen....
Elevated small dense low-density lipoprotein-cholesterol (sdLDL-C) has been reported to be associated with increased atherosclerotic cardiovascular disease (ASCVD) risk. Our aims were determine whether direct and calculated sdLDL-C significant independent ASCVD risk factors in sex race subgroups.In a total of 15,933 participants free at baseline (median age 62 years, 56.7% female, 19.7% African American) fasting plasma lipids measured by standardized automated methods. All subjects followed...
Background/Objectives: Elevated lipoprotein(a) [Lp(a)] is associated with increased incidence of atherosclerotic cardiovascular disease (ASCVD). We aimed to assess the utility Lp(a) as an ASCVD risk-enhancing factor, recommended by 2019 ACC/AHA guidelines on primary prevention, and determine whether C-reactive protein (CRP) modifies association elevated risk. Methods: Lp(a), high sensitivity CRP (hs-CRP), other risk factors, including blood lipids, pressure, diabetes status, body weight...
Complex human diseases are affected by genetic and environmental risk factors their interactions. Gene-environment interaction (GEI) tests for aggregate variant sets have been developed in recent years. However, existing statistical methods become rate limiting large biobank-scale sequencing studies with correlated samples. We propose efficient Mixed-model Association GEne-Environment interactions (MAGEE), testing GEI between an set exposures on quantitative binary traits large-scale related...
Abstract BACKGROUND Increases in circulating LDL cholesterol (LDL-C) and high-sensitivity C-reactive protein (hsCRP) concentrations are significant risk factors for cardiovascular disease (CVD). We assessed direct LDL-C hsCRP compared to standard the Framingham Offspring Study. METHODS used stored frozen plasma samples (−80 °C) obtained after an overnight fast from 3147 male female participants (mean age, 58 years) free of CVD at cycle 6 Overall, 677 (21.5%) had a end point over median 16.0...
The treatment of older people with hemophilia A (HA) can be complicated by comorbidities.
Alcohol intake influences plasma lipid levels, and such effects may be moderated by genetic variants. We aimed to characterize the role of aggregated rare low-frequency protein-coding variants in gene alcohol consumption interactions associated with fasting levels.In Cohorts for Heart Aging Research Genomic Epidemiology consortium, triglycerides high- low-density lipoprotein cholesterol were measured 34 153 individuals European ancestry from 5 discovery studies 32 277 6 replication studies....
Aim: We conducted a methylome-wide association study to examine associations between DNA methylation in whole blood and central adiposity body fat distribution, measured as waist circumference, waist-to-hip ratio waist-to-height adjusted for mass index, 2684 African–American adults the Atherosclerosis Risk Communities study. Materials & methods: validated significantly associated cytosine–phosphate–guanine sites (CpGs) among using Women's Health Initiative Framingham Heart Study participants...
DNA methylation, an epigenetic modification, can be affected by environmental factors and thus regulate gene expression levels that lead to alterations of certain phenotypes. Network analysis has been used successfully discover sets are expressed differently across multiple disease states suggest possible pathways progression. We applied this framework compare methylation before after lipid-lowering medication identify modules differ topologically between the two time points, revealing...
Abstract Lung function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry GWAS meta-analysis of lung to date, comprising 580,869 participants, 1020 independent association signals identified 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age smoking groups, collectively as genetic risk...
Anthropometric traits, measuring body size and shape, are highly heritable significant clinical risk factors for cardiometabolic disorders. These traits have been extensively studied in genome-wide association studies (GWASs), with hundreds of loci identified. We performed a whole-exome sequence analysis the genetics height, mass index (BMI) waist/hip ratio (WHR). meta-analyzed single-variant gene-based associations variation BMI, WHR up to 22,004 individuals, we assessed replication our...
ABSTRACT Introduction People with haemophilia A (PwHA) experience acute and chronic pain associated reduced quality of life (QoL). Aims This post hoc analysis pooled data from the HAVEN 1 (NCT02622321), 3 (NCT02847637), 4 (NCT03020160) STASEY (NCT0319179) studies assessed impact emicizumab prophylaxis on pain‐related QoL in PwHA. Methods PwHA received during four studies. In this analysis, was using patient‐reported responses to pain‐specific questions Haem‐A‐QoL/Haemo‐QoL‐SF pain/discomfort...