: Application

Application 25205

Title:	Identification and characterization of functional variants with a causal role in chronic cardiopulmonary diseases
Lead Institution:	IUCPQ
Principal investigator:	Dr Sebastien Theriault

WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.

About

Our goal is to characterize genetic determinants involved in chronic cardiopulmonary diseases, including cardiovascular disease (CVD) and aortic valve stenosis as well as respiratory diseases most particularly asthma, chronic obstructive pulmonary disease (COPD) and lung cancer. Our project comprises two aims: 1) Identify genetic variants and genes causally involved in these conditions by leveraging UK Biobank and other publicly available data as well as data from our institution; 2) Identify potential therapeutic targets for interventions and evaluate their risk of adverse effects. Cardiopulmonary diseases contribute significantly to morbidity and mortality worldwide and in the UK. Genetic variants have been associated with these conditions but their functionality remains unknown. Our research will determine the role and causality of these variants and could therefore contribute to significant improvements in prevention, screening and diagnostic procedures. Identification of specific genes and biological pathways involved in the pathogenesis of cardiopulmonary diseases could also lead to the development of new therapeutic agents. We will first use genetic and clinical data from UK Biobank to identify novel genetic variants associated with cardiopulmonary diseases and their risk factors and replicate previous findings. We will then examine the impact of those variants and others identified locally on a wide range of phenotypes to gain insight on the mechanisms explaining their association and identify variants more likely to be functional and causal. Finally, we will use this information to identify potential therapeutic targets for these life-threatening conditions. We are requesting data from all available participants. Data from the whole cohort will be required to obtain sufficient power to detect genetic associations. We have experience in analyzing large datasets and genomic data.

1 Return

Return ID	App ID	Description	Archive Date
2626	25205	A transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosis	28 Oct 2020

16 Publications

Pub ID	Title	Author(s)	Year	Journal
2627	A transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosis	Sébastien Thériault (+11)	2018	Nature Communications
4208	Association of Long-term Exposure to Elevated Lipoprotein(a) Levels With Parental Life Span, Chronic Disease-Free Survival, and Mortality Risk	Benoit J. Arsenault (+12)	2020	JAMA Network Open
14052	Association of genetically predicted levels of circulating blood lipids with coronary artery disease incidence	Hasanga D Manikpurage (+12)	2024	Atherosclerosis
9463	Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis	Hasanga D. Manikpurage (+6)	2023	Circulation Genomic and Precision Medicine
10585	Electronic health record-based genome-wide meta-analysis provides insights on the genetic architecture of non-alcoholic fatty liver disease	Nooshin Ghodsian (+20)	2021	Cell Reports Medicine
4896	Genetic Association Analyses Highlight IL6, ALPL, and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis	Sébastien Thériault (+50)	2019	Circulation Genomic and Precision Medicine
8914	Genetic inhibition of angiopoietin-like protein-3, lipids, and cardiometabolic risk	Émilie Gobeil (+16)	2024	European Heart Journal
12227	Greater adherence to the 2019 Canada's Food Guide recommendations on healthy food choices reduces the risk of cardiovascular disease in adults: a prospective analysis of UK Biobank data	Didier Brassard (+4)	2022	American Journal of Clinical Nutrition
11158	Impact of C-reactive protein levels on lipoprotein(a)-associated aortic stenosis incidence and progression	Arnaud Girard (+19)	2023	European Heart Journal Open
14992	Impact of Lipoprotein(a) on Valvular and Cardiovascular Outcomes in Patients With Calcific Aortic Valve Stenosis	Arnaud S. Girard (+9)	2025	Journal of the American Heart Association
9998	Impact of loss-of-function in angiopoietin-like 4 on the human phenome	Eloi Gagnon (+4)	2024	Atherosclerosis
10102	Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation	Sébastien Thériault (+21)	2024	Nature Communications
11563	Large-scale metabolomic profiling and incident non-alcoholic fatty liver disease	Eloi Gagnon (+9)	2023	iScience
11700	Polygenic inheritance and its interplay with smoking history in predicting lung cancer diagnosis: a French-Canadian case-control cohort	Véronique Boumtje (+23)	2024	EBioMedicine
11023	Proteome-Wide Mendelian Randomization Identifies Causal Links Between Blood Proteins and Acute Pancreatitis	Jérôme Bourgault (+13)	2023	Gastroenterology
11588	Sex-Specific Impact of Body Weight on Atherosclerotic Cardiovascular Disease Incidence in Individuals With and Without Ideal Cardiovascular Health	Audrey Paulin (+4)	2023	Journal of the American Heart Association

1 Category

Category ID	Description	Items
1019	Linked health outcomes	75

Enabling scientific discoveries that improve human health