
Kathryn L. Lunetta
· PhD ProfessorBoston University · Biostatistics
Active 1991–2026
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About
Kathryn L. Lunetta, PhD, is a Professor of Biostatistics and a statistical geneticist with more than 20 years of experience in statistics and genetics research. She has extensive experience with the design and analysis of genome-wide association studies and sequencing studies, collaborating on several large, national, and international genetic epidemiology studies at Boston University and with the Framingham Heart Study. Her methodological research focuses on statistical problems and study design and analysis issues in human genetics, particularly in the mapping of complex genetic diseases. Her collaborative work spans multiple fields, including the genetics of atrial fibrillation, healthy aging, reproduction, and Alzheimer’s disease. She is a member of the CHARGE consortium and participates on the Steering and Analysis committees, as well as a TOPMed investigator and analysis committee member. She serves as senior/primary statistician on several Alzheimer’s-related projects and for the Framingham Heart Study Atrial Fibrillation working groups, advising on methodology and providing analysis supervision. Additionally, she is a multi-Principal Investigator of a project investigating immune cell and brain aging biomarkers related to cognitive aging.
Research topics
- Biology
- Genetics
- Medicine
- Internal medicine
- Bioinformatics
- Computational biology
- Evolutionary biology
- Gerontology
- Computer Science
- Physiology
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…
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…
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Nature · 2020 · 726 citations
Nature Communications · 2020 · 484 citations
Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer's dementia, while the APOE2 allele is associated with a lower risk of Alzheimer's dementia, it is not yet known whether APOE2 homozygotes have a particularly low risk. We generated Alzheimer's dementia odds ratios and other findings in more than 5,000 clinically characterized and neuropathologically characterized Alzheimer's dementia cases and controls. APOE2/2 was associated with a low Alz…
Genetic insights into biological mechanisms governing human ovarian ageing
Nature · 2021 · 440 citations
Recent grants
NIH · $474k · 2018
IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVAL
NIH · $13.6M · 2009–2026
IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVAL
NIH · $7.0M · 2009–2018
Frequent coauthors
- 730 shared
Emelia J. Benjamin
Boston Medical Center
- 532 shared
Patrick T. Ellinor
- 508 shared
Steven A. Lubitz
Broad Institute
- 368 shared
Joanne M. Murabito
- 313 shared
Lu‐Chen Weng
Brigham and Women's Hospital
- 297 shared
Honghuang Lin
University of Massachusetts Chan Medical School
- 295 shared
Daniel Levy
National Heart Lung and Blood Institute
- 289 shared
André G. Uitterlinden
Education
- 1996
PhD, Biostatistics
University of Michigan
- 1993
MS, Biostatistics
University of Michigan
- 1989
BA
Grinnell College
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