Anne E. Justice
- Genetic Associations and Epidemiology
- Nutrition, Genetics, and Disease
- Genetic Mapping and Diversity in Plants and Animals
- Epigenetics and DNA Methylation
- Genetic and phenotypic traits in livestock
- Metabolomics and Mass Spectrometry Studies
- Birth, Development, and Health
- Cardiovascular Health and Risk Factors
- Adipose Tissue and Metabolism
- Health, Environment, Cognitive Aging
- RNA modifications and cancer
- Air Quality and Health Impacts
- Obesity, Physical Activity, Diet
- Regulation of Appetite and Obesity
- Bioinformatics and Genomic Networks
- Adipokines, Inflammation, and Metabolic Diseases
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Diet and metabolism studies
- Genomics and Rare Diseases
- SARS-CoV-2 and COVID-19 Research
- Cardiovascular Disease and Adiposity
- Diet, Metabolism, and Disease
- Genetics and Physical Performance
- Cancer-related molecular mechanisms research
Geisinger Health System
2017-2025
Geisinger Medical Center
2018-2025
University of North Carolina at Chapel Hill
2014-2023
Institute of Population and Public Health
2023
University of Chile
2022
University of Michigan
2022
Public Health Department
2016-2021
Translational Research Informatics Center (Japan)
2019
University of North Carolina Health Care
2017-2018
Geisinger Neuroscience Institute
2018
Tobacco and alcohol use are heritable behaviours associated with 15% 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease injury1-4. These substances used across the globe, yet genome-wide association studies have focused on individuals European ancestries5. Here we leveraged global genetic diversity 3.4 million from four major clines ancestry (approximately 21% non-European) power discovery fine-mapping genomic loci tobacco use, inform function these via...
Abstract Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care 1 or hospitalization 2–4 after infection with SARS-CoV-2. The GenOMICC (Genetics Mortality in Care) study enables comparison genomes from individuals who are critically ill those population controls to find underlying disease mechanisms. Here we use whole-genome sequencing 7,491 compared 48,400 discover and replicate 23...
<h3>Importance</h3> Detection of disease-associated variants in the<i>BRCA1</i>and<i>BRCA2</i>(<i>BRCA1/2</i>) genes allows for cancer prevention and early diagnosis high-risk individuals. <h3>Objectives</h3> To identify pathogenic likely (P/LP)<i>BRCA1/2</i>variants an unselected research cohort, to characterize the features associated with P/LP variants. <h3>Design, Setting, Participants</h3> This is a cross-sectional study adult volunteers (n = 50 726) who underwent exome sequencing at...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters human host cells via angiotensin-converting enzyme (ACE2) and causes disease 2019 (COVID-19). Here, through a genome-wide association study, we identify variant (rs190509934, minor allele frequency 0.2-2%) that downregulates ACE2 expression by 37% (P = 2.7 × 10-8) reduces the risk of SARS-CoV-2 infection 40% (odds ratio 0.60, P 4.5 10-13), providing genetic evidence levels influence COVID-19 risk. We also replicate...
Mitochondria (MT), the major site of cellular energy production, are under dual genetic control by 37 mitochondrial DNA (mtDNA) genes and numerous nuclear (MT-nDNA). In CHARGEmtDNA+ Consortium, we studied associations mtDNA MT-nDNA with body mass index (BMI), waist-hip-ratio (WHR), glucose, insulin, HOMA-B, HOMA-IR, HbA1c. This 45-cohort collaboration comprised 70,775 (insulin) to 170,202 (BMI) pan-ancestry individuals. Validation imputation variants was followed single-variant gene-based...