Seyedeh M. Zekavat
A5028719733- Genetic Associations and Epidemiology
- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genomics and Rare Diseases
- Lipoproteins and Cardiovascular Health
- Cancer Genomics and Diagnostics
- Retinal Diseases and Treatments
- Retinal Imaging and Analysis
- Epigenetics and DNA Methylation
- Cardiovascular Health and Risk Factors
- RNA modifications and cancer
- Cardiovascular Disease and Adiposity
- Atherosclerosis and Cardiovascular Diseases
- Glaucoma and retinal disorders
- Cancer, Lipids, and Metabolism
- Genomic variations and chromosomal abnormalities
- Hemoglobinopathies and Related Disorders
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- Diabetes and associated disorders
- COVID-19 Clinical Research Studies
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Nutrition, Genetics, and Disease
- Single-cell and spatial transcriptomics
- Immune Cell Function and Interaction
Broad Institute
2016-2025
Harvard University
2016-2025
Massachusetts Eye and Ear Infirmary
2022-2025
Yale University
2017-2024
Massachusetts General Hospital
2016-2024
Massachusetts Institute of Technology
2015-2023
VA Boston Healthcare System
2022
Twitter (United States)
2021
Center for Genomic Science
2019
Center for Human Genetics
2016
<h3>Importance</h3> In observational studies, abdominal adiposity has been associated with type 2 diabetes and coronary heart disease (CHD). Whether these associations represent causal relationships remains uncertain. <h3>Objective</h3> To test the association of a polygenic risk score for waist-to-hip ratio (WHR) adjusted body mass index (BMI), measure adiposity, CHD through potential intermediates blood lipids, pressure, glycemic phenotypes. <h3>Design, Setting, Participants</h3> A WHR...
Recent guidelines endorse using history of menopause before age 40 years to refine atherosclerotic cardiovascular disease risk assessments among middle-aged women. Robust data on in this population are lacking.To examine the development diseases and factors women with natural surgical years.Cohort study (UK Biobank), adult residents United Kingdom recruited between 2006 2010. Of who were 69 old postmenopausal at enrollment, 144 260 eligible for inclusion. Follow-up occurred through August...
Background: The relative prevalence and clinical importance of monogenic mutations related to familial hypercholesterolemia high polygenic score (cumulative impact many common variants) pathways for early-onset myocardial infarction remain uncertain. Whole-genome sequencing enables simultaneous ascertainment both each individual. Methods: We performed deep-coverage whole-genome 2081 patients from 4 racial subgroups hospitalized in the United States with (age ≤55 years) recruited a 2:1...
Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X analyze genotypes with quantitative traits-plasma total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density triglycerides. Common variant association yields known loci except few variants previously poorly imputed. Rare coding Mendelian dyslipidemia genes but rare...
Background and Purpose: Clonal hematopoiesis of indeterminate potential (CHIP) is a novel age-related risk factor for cardiovascular disease–related morbidity mortality. The association CHIP with incident ischemic stroke was reported previously in an exploratory analysis including small number cases without replication lack subphenotyping. purpose this study to discover whether or hemorrhagic stroke. Methods: We utilized plasma genome sequence data blood DNA identify 78 752 individuals from...
The microvasculature, the smallest blood vessels in body, has key roles maintenance of organ health and tumorigenesis. retinal fundus is a window for human vivo noninvasive assessment microvasculature. Large-scale complementary machine learning-based vasculature with phenome-wide genome-wide analyses may yield new insights into disease.
Outliers in the human transcriptome reveal functional effects of rare genetic variants.
Premature menopause is an independent risk factor for cardiovascular disease in women, but mechanisms underlying this association remain unclear. Clonal hematopoiesis of indeterminate potential (CHIP), the age-related expansion hematopoietic cells with leukemogenic mutations without detectable malignancy, associated accelerated atherosclerosis. Whether premature CHIP unknown.We included postmenopausal women from UK Biobank (n=11 495) aged 40 to 70 years whole exome sequences and Women's...
Nitric oxide signaling plays a key role in the regulation of vascular tone and platelet activation. Here, we seek to understand impact genetic predisposition enhanced nitric on risk for cardiovascular diseases, thus informing potential utility pharmacological stimulation pathway as therapeutic strategy.We analyzed association common rare variants 2 genes that mediate (Nitric Oxide Synthase 3 [NOS3] Guanylate Cyclase 1, Soluble, Alpha [GUCY1A3]) with range human phenotypes. We selected...
Abstract Less than 3% of protein-coding genetic variants are predicted to result in loss protein function through the introduction a stop codon, frameshift, or disruption an essential splice site; however, such loss-of-function (pLOF) provide insight into effector transcript and direction biological effect. In >400,000 UK Biobank participants, we conduct association analyses 3759 pLOF with six metabolic traits, cardiometabolic diseases, twelve additional diseases. We identified 18 new...