Publications
2022/05/13
Characterization of the genomic and environmental contributions to cardiovascular and metabolic phenotypes in the Quebec population
Status
Completed
Start date
2013
Location
Quebec
Researcher
Awadalla, Philip
Associated institution
Centre Hospitalier Universitaire Sainte-Justine and Université de Montréal
Summary
Cardiovascular and metabolic conditions such as obesity and hypertension represent a major public health challenge in Québec. This project aimed to characterize how genomic, epigenomic, environmental and lifestyle factors interact to influence cardiovascular risk, with a particular focus on hypertension. Genome-wide genotyping and blood-based gene expression analyses were conducted using data from CARTaGENE participants to identify biomarkers relevant for risk stratification and the development of pre-diagnostic tools. The project resulted in numerous peer‑reviewed scientific publications, contributing significantly to the understanding of complex gene–environment interactions in chronic disease risk.
Themes
- Chronic diseases
- Environment and lifestyle
- Genetics and genomics
Data types
- Biological samples
- Physical and cognitive measures
- Questionnaire data
Related resources
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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
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Gene-by-environment interactions in urban populations modulate risk phenotypes
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Allele-specific expression reveals interactions between genetic variation and environment
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Haplotype-based normalization technique for the analysis and detection of allele specific expression
Theses and dissertations
2016
The French Canadian founder population : lessons and insights for genetic epidemiological research
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2016/04/21
Impact of the X Chromosome and sex on regulatory variation
Publications
2016/02/27
Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia
Publications
2015/04/01
Association of age-dependent height and bone mineral density decline with increased arterial stiffness and rate of fractures in hypertensive individuals
Publications
2015/02/16
Recombination affects accumulation of damaging and disease-associated mutations in human populations
Publications
2014/06/13
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy
Publications
2014/04/25
High-resolution genomic analysis of human mitochondrial RNA sequence variation
Theses and dissertations
2013
Genomic variation in recombination patterns: implications for disease and cancer
Publications
2013/05/31
Exploiting gene expression variation to capture gene-environment interactions for disease
Publications
2012/10/15