Gina Marie Peloso

About

Gina Peloso, PhD, is an Associate Professor in the Department of Biostatistics at Boston University School of Public Health. Her primary research focus is statistical genetics, with contributions to the identification of common genetic variants through genome-wide association studies (GWAS) related to complex cardiovascular traits, particularly plasma lipid levels. She investigates the role of rare genetic variation using exome and whole genome sequencing to gain insights into the biology behind blood lipid traits, assess the potential of genetic variants to predict disease risk, and explore the shared genetic contributions between diseases such as blood lipid levels and Alzheimer’s disease. Dr. Peloso is an active member of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, the TOPMed Program, and is a lead investigator in the Global Lipid Genetic Consortium.

Research topics

• Biology
• Genetics
• Computational biology
• Medicine
• Evolutionary biology
• Computer Science
• Immunology
• Environmental health
• Internal medicine
• Virology

Selected publications

• New insights into the genetic etiology of Alzheimer’s disease and related dementias

  Nature Genetics · 2022 · 2403 citations

  Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted mi…

  DOI

• Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

  Nature · 2021 · 2261 citations

  . In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These…

  DOI

• Mapping the human genetic architecture of COVID-19

  Nature · 2021 · 1108 citations

  . They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international coll…

  DOI

• The power of genetic diversity in genome-wide association studies of lipids

  Nature · 2021 · 1032 citations

  DOI

• Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

  Nature Genetics · 2022 · 354 citations

  DOI

Recent grants

• Using genetic variation to study biology of blood lipids & coronary heart disease

  NIH · $6.5M · 2015–2026

• Genetic determinants of triglyceride-rich lipoproteins to disentangle CHD risk

  NIH · $181k · 2018–2021

• Whole genome sequences in ethnically diverse individuals to comprehensively characterize the genetic mechanisms of dyslipidemias

  NIH · $4.1M · 2019–2028

Frequent coauthors

• Jun Liu

  Suzhou University of Science and Technology

  624 shared

• Wei Zhao

  Michigan United

  607 shared

• Zhe Wang

  Zhejiang University

  473 shared

• Jun Liu

  University of California, San Francisco

  447 shared

• Sekar Kathiresan

  Massachusetts General Hospital

  412 shared

• Christopher J. O’Donnell

  VA Boston Healthcare System

  404 shared

• Wei Zhou

  XinHua Hospital

  391 shared

• Pradeep Natarajan

  Harvard University

  382 shared

Labs

• Admissions TeamPI

Similar researchers at Boston University

• Alexa S. Beiserh-188
• Kathryn L. Lunettah-132
• Chunyu Liuh-95