Publications

2019

Z. Slim, C.S. Moura, S. Bernatsky, E. Rahme, Capture of Rheumatoid Arthritis Cases within Quebec Health Administrative Database, J Rheumatol.

Z. Slim, C.S. Moura, S. Bernatsky, E. Rahme, Care quality for rheumatoid arthritis patients in Quebec, Int J Rheum Dis

I. Fortier, N. Dragieva, M. Saliba, C. Craig, P.J. Robson; with the Canadian Partnership for Tomorrow Project’s scientific directors and the Harmonization Standing Committee, Harmonization of the Health and Risk Factor Questionnaire data of the Canadian Partnership for Tomorrow Project: a descriptive analysis, CMAJ Open 7(2):E272-E282

F. Wünnemann, K.S. Lo, A. Langford-Avelar, D. Busseuil, M.P. Dubé, J.C. Tardif, G. Lettre , Validation of Genome-wide Polygenic Risk Scores for Coronary Artery Disease in French Canadians, Circ Genom Precis Med.

P. Hystad, Y. Payette, N. Noisel, C. Boileau, Green space associations with mental health and cognitive function, Environ Epidemiol 3(1):e040

A.T. Ali, L. Boehme, G. Carbajosa, V.C. Seitan, K.S. Small, A. Hodgkinson, Nuclear genetic regulation of the human mitochondrial transcriptome, eLife 8:e41927

L.-C. Desbiens, R. Goupil, A. Sidibé, F. Madore, F. Mac-Way, Fracture status in middle-aged individuals with early CKD: cross-sectional analysis of the CARTaGENE survey, Osteoporos Int. 30(4):787-795

2018

M.J. Favé, F.C. Lamaze, D. Soave, A. Hodgkinson, H. Gauvin, V. Bruat, J.C. Grenier, E. Gbeha, K. Skead, A. Smargiassi, M. Johnson, Y. Idaghdour, P. Awadalla, Gene-by-environment interactions in urban populations modulate risk phenotypes, Nat Commun. 9(1):827

D. Nada, C. Julien, M.E. Samuels, A. Moreau, A Replication Study for Association of LBX1 Locus With Adolescent Idiopathic Scoliosis in French-Canadian Population, Spine (Phila Pa 1976) 43(3):172-178

T.J.B. Dummer, P. Awadalla, C. Boileau, C. Craig, I. Fortier, V. Goel, J.M.T. Hicks, S. Jacquemont, B.M. Knoppers, N. Le, T. McDonald, J. McLaughlin, A.M. Mes-Masson, A.M. Nuyt, L.J. Palmer, L. Parker, M. Purdue, et al., The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention, CMAJ 190(23):E710-E717

S. Boies, C. Mérette, T. Paccalet, M. Maziade, A. Bureau, Polygenic risk scores distinguish patients from non-affected adult relatives and from normal controls in schizophrenia and bipolar disorder multi-affected kindreds, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177(3):329-336

S. Peischl, I. Dupanloup, A. Foucal, M. Jomphe, V. Bruat, J.C. Grenier, A. Gouy, K.J. Gilbert, E. Gbeha, L. Bosshard, E. Hip-Ki, M. Agbessi, A. Hodgkinson, H. Vézina, P. Awadalla, L. Excoffier, Relaxed Selection During a Recent Human Expansion, Genetics 208(2):763-777

A. Krajcoviechova, F.C. Marois-Blanchet, S. Troyanov, F. Harvey, P. Dumas, J. Tremblay, R. Cifkova, P. Awadalla, F. Madore, P. Hamet, Uromodulin in a pathway between decreased renal urate excretion and albuminuria, Am J Hypertens 32(4):384-392

F. Lamarche, M. Agharazii, A.C. Nadeau-Fredette, F. Madore, R. Goupil, Central and Brachial Blood Pressures, Statins, and Low-Density Lipoprotein Cholesterol: A Mediation Analysis, Hypertension 71(3):415-421

F. Lepeytre, P. L. Lavoie, S. Troyanov, F. Madore, M. Agharazii, R. Goupil, Uric acid association with pulsatile and steady components of central and peripheral blood pressures, Journal of Hypertension 0263-6352

2017

A. Gravel, I. Dubuc, A. Brooks-Wilson, K.J. Aronson, J. Simard, H.A. Velásquez-García, J.J. Spinelli, L. Flamand, Inherited Chromosomally Integrated Human Herpesvirus 6 and Breast Cancer, Cancer Epidemiol Biomarkers Prev 26(3):425-427

C. Dias, M. Giordano, R. Frechette, S. Bellone, C. Polychronakos, L. Legault, C.L. Deal, C.G. Goodyer, Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature, J Cell Mol Med 21(11):2985-2999

S. Bernatsky, A. Smargiassi, L. Joseph, P. Awadalla, I. Colmegna, M. Hudson, M.J. Fritzler, Industrial air emissions, and proximity to major industrial emitters, are associated with anti-citrullinated protein antibodies, Environ Res 157:60-63

D.A. Knowles, J.R. Davis, H. Edgington, A. Raj, M.J. Favé, X. Zhu, J.B. Potash, M.M. Weissman, J. Shi, D. Levinson, P. Awadalla, S. Mostafavi, S.B. Montgomery, A. Battle, Allele-specific expression reveals interactions between genetic variation and environment, Nature Methods 14(7):699-702

2016

K.R. Kukurba, P. Parsana, B. Balliu, K.S. Smith, Z. Zappala, D.A. Knowles, M.J. Favé, J.R. Davis, X. Li, X. Zhu, J.B. Potash, M.M. Weissman, J. Shi, A. Kundaje, D.F. Levinson, P. Awadalla, S. Mostafavi, A. Battle, S.B. Montgomery, Impact of the X Chromosome and sex on regulatory variation, Genome Res. 26(6):768-77

S. Troyanov, C. Delmas-Frenette, G. Bollée, S. Youhanna, V. Bruat, P. Awadalla, O. Devuyst, F. Madore, Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion, Clin J Am Soc Nephrol 11(1): 62-69

A. Hodgkinson, J.C. Grenier, E. Gbeha, P. Awadalla, Haplotype-based normalization technique for the analysis and detection of allele specific expression, BMC Bioinformatics 17(1): 364

N.D. Merner, A. Mercado, A.R. Khanna, A. Hodgkinson, V. Bruat, P. Awadalla, G. Gamba, G.A. Rouleau, K.T. Kahle, Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia, J Psychiatr Res 77: 22-26

R. Goupil, D. Dupuis, S. Troyanov, F. Madore, M. Agharazii, Heart rate dependent and independent effects of beta-blockers on central hemodynamic parameters: a propensity score analysis, J Hypertens 34(8): 1535-1543

S.S. Deschênes, R.J. Burns, E. Graham, N. Schmitz, Prediabetes, depressive and anxiety symptoms, and risk of type 2 diabetes: A community-based cohort study, J Psychosom Res. 89:85-90

R. Goupil, D. Dupuis, M. Agharazii, P. Hamet, S. Troyanov, F. Madore, Central blood pressures in early chronic kidney disease: an analysis of CARTaGENE, Nephrol Dial Transplant 32(6):976-983

N. Schmitz, S.S. Deschênes, R.J. Burns, K.J. Smith, A. Lesage, I. Strychar, R. Rabasa-Lhoret, C. Freitas, E. Graham, P. Awadalla, J.L. Wang, Depression and risk of type 2 diabetes: the potential role of metabolic factors, Mol Psychiatry 21(12):1726-1732

S.S. Anand, J.V. Tu, P. Awadalla, S. Black, C. Boileau, D. Busseuil, D. Desai, J.P. Despres, R.J. de Souza, T.J.B. Dummer, S. Jacquemont, B.M. Knoppers, E. Larose, S.A. Lear, F. Marcotte, A.R. Moody, L. Parker, P. Poirier, et al., Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) - a Pan Canadian cohort study, BMC Public Health 32(6):976-983

2015

A. Gravel, I. Dubuc, G. Morissette, R.H. Sedlak, K. R. Jerome, L. Flamand, Inherited chromosomally integrated human herpesvirus 6 as a predisposing risk factor for the development of angina pectoris, Proc Natl Acad Sci U S A 112(26):8058-63

C.S. Moura, S.S. Daskalopoulou, L.E. Levesque, S. Bernatsky, M. Abrahamowicz, M.A. Tsadok, S. Rajabi, L. Pilote, Comparison of the Effect of Thiazide Diuretics and Other Antihypertensive Drugs on Central Blood Pressure: Cross-Sectional Analysis Among Nondiabetic Patients, J Clin Hypertens (Greenwich) 17(11): 848-854

J.G. Hussin, A. Hodgkinson, Y. Idaghdour, J.C. Grenier, J.P. Goulet, E. Gbeha, E. Hip-Ki, P. Awadalla, Recombination affects accumulation of damaging and disease-associated mutations in human populations, Nat Genet 47(4): 400-404

R. El-Bikai, M.R. Tahir, J. Tremblay, M. Joffres, O. Seda, L. Sedova, P. Awadalla, C. Laberge, B.M. Knoppers, P. Dumas, D. Gaudet, L.G. Ste-Marie, P. Hamet, Association of age-dependent height and bone mineral density decline with increased arterial stiffness and rate of fractures in hypertensive individuals, J Hypertens 33(4): 727-735

2014

A. Hodgkinson, Y. Idaghdour, E. Gbeha, J.C. Grenier, E. Hip-Ki, V. Bruat, J.P. Goulet, T. de Malliard, P. Awadalla, High-resolution genomic analysis of human mitochondrial RNA sequence variation, Science 344(6182): 413-415

K.T. Kahle, N. D. Merner, P. Friedel, L. Silayeva, B. Liang, A. Khanna, Y. Shang, P. Lachance-Touchette, C. Bourassa, A. Levert, P.A. Dion, B. Walcott, D. Spiegelman, A. Dionne-Laporte, A. Hodgkinson, P. Awadalla, H. Nikbakht, J. Majewski, P. Cossette, Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy, EMBO Rep 15(7): 766-774

J.C. Verhave, S. Troyanov, F. Mongeau, L. Fradette, J. Bouchard, P. Awadalla, F. Madore, Prevalence, awareness, and management of CKD and cardiovascular risk factors in publicly funded health care, Clin J Am Soc Nephrol 9(4): 713-719

2013

D. Doiron, P. Raina and I. Fortier, Linking Canadian population health data: maximizing the potential of cohort and administrative data, Canadian Journal of Public Health 104(3): e258–e261

P. Awadalla, C. Boileau, Y. Payette, Y. Idaghdour, J. P. Goulet, B.M. Knoppers, P. Hamet, C. Laberge, Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics, Int J Epidemiol 42(5): 1285-1299

2011

S. Fortin, S. Pathmasiri, R. Grintuch, M. Deschênes, Access arrangements' for biobanks: a fine line between facilitating and hindering collaboration, Public Health Genomics 14(2): 104-114

2007

2006

2004

B. Godard, J. Marshall, C. Laberge, B.M. Knoppers, Strategies for consulting with the community: the cases of four large-scale genetic databases, Sci Eng Ethics 10(3): 457-477

Projects

2019

Aging-induced dysregulation of gene expression networks Principal Investigator: Alan Cohen

Affiliation: Université de Sherbrooke

Nutritional, behavioral and lifestyle mediators of genetic susceptibility to obesity Principal Investigator: Louis Pérusse

Affiliation: Université Laval

Lifestyle and Cancer: Identifying new risk factors for the most common cancers in Canada Principal Investigator: Rachel Murphy

Affiliation: The Université of British Columbia

Longitudinal Genome and Phenome Analyses of Human Populations Principal Investigator: Philip Awadalla

Affiliation: Ontario Institute for Cancer Research

Évaluation de l’exposition des travailleurs à la chaleur à l’aide des données de la cohorte québécoise CARTaGENE Principal Investigator: Dr. Nolwenn Noisel

Affiliation: CARTaGENE - CHU Sainte-Justine / École de santé publique

2018

Prévalence de variantes dans les gènes NPC1 et NPC2 dans la population québécoise Principal Investigator: Martine Tétreault

Affiliation: Centre hospitalier de l’Université de Montréal - CHUM

Role of Prohibitins and SUMOylation in Osteoarthritis Pathogenesis Principal Investigator: Alain Moreau

Affiliation: Centre Hospitalier Universitaire Sainte-Justine

Étude de prévalence de l'antigène de groupe sanguin D faible type 42 Principal Investigator: Josée Laganière

Affiliation: Héma-Québec

Exposure to ultraviolet radiation and the risk of hematologic malignancy and other site-specific cancer development Principal Investigator: Dr. Will King

Affiliation: Queens University

Occupational exposure to endocrine disrupting chemicals and colorectal cancer risk Principal Investigator: Vikki Ho

Affiliation: CRCHUM

Genetic analyses of proposed new ovarian cancer predisposing gene Principal Investigator: Patricia Tonin

Affiliation: McGill University Health Centre

An investigation of gene-environment interaction on eating behaviour and adiposity in a cohort of Quebec adults Principal Investigator: Daiva Nielsen

Affiliation: McGill University

Population genetics of pharmacogenes Principal Investigator: Julie Hussin

Affiliation: Institut de Cardiologie de Montréal Centre de Recherche - Université de Montréal

Phenome-wide AssociatioN studies of cardiometabolic Drug tArgets (PANDA) Principal Investigator: Benoit Arsenault

Affiliation: Institut universitaire de cardiologie et de pneumologie de Québec –Université Laval

2017

Comparative Genomewide Association of Aortic Stenosis With and Without Coronary Artery Disease Principal Investigator: George Thanassoulis

Affiliation: McGill University Health Centre

Occupational Physical Activity and Lung Cancer Principal Investigator: Vikki Ho

Affiliation: CRCHUM

Genetic analyses of cardiometabolic diseases and traits in CARTaGENE Principal Investigator: Guillaume Lettre

Affiliation: Institut de Cardiologie de Montréal Centre de Recherche

The impact of structural genomic variants on cognition in the general population Principal Investigator: Sébastien Jacquemont

Affiliation: CHU Sainte-Justine

Systemic inflammation and the risk of depression in people with type 2 diabetes: a prospective community study Principal Investigator: Norbert Schmitz

Affiliation: Douglas Mental Health University Institute

Pharmacogenetic study exploring the impact of a genetic variant in the CYP2R1 gene on the response to vitamin D replacement therapy Principal Investigator: Brent Richards

Affiliation: Lady Davis Institute - Jewish General Hospital

Evaluation of genetic variants identified through hereditary cancer gene discovery projects in a French Canadian control cohort Principal Investigator: William Foulkes

Affiliation: McGill University Health Centre

Genetic basis and modifiers of sleep disorders Principal Investigator: Simon Warby

Affiliation: Hôpital Sacré-Coeur de Montréal

Estimation de la prévalence de certaines mutations associées à un risque accru de cancer du sein, ainsi que du risque qui leur sont associées Principal Investigator: Jacques Simard

Affiliation: CHU de Québec

SNP discovery in myalgic encephalomyelitis (ME) Principal Investigator: Alain Moreau

Affiliation: CHU Ste-Justine

Genetics of REM sleep behavior disorder and conversion to Parkinson's disease Principal Investigator: Ziv Gan Or

Affiliation: McGill University

Marqueurs Ostéocytaires, Fractures et Évènements Cardiovasculaires en Insuffisance Rénale Chronique (MOFECIRC) Principal Investigator: Fabrice Mac-Way

Affiliation: Université Laval

2016

Genomic Analysis of the Mitochondrial Transcriptome Principal Investigator: Alan Hogkinson

Affiliation: King's College London

L'étude du rôle prédicteur de la pression aortique centrale dans la survenue d'événements cardiovasculaires Principal Investigator: Rémi Goupil

Affiliation: Hôpital Sacré-Coeur de Montréal

Deciphering the Genetic background of Restless Legs Syndrome Principal Investigator: Guy Rouleau

Affiliation: Institut neurologique de Montréal, Université McGill

Genomic follow-up of the susceptibility loci for schizophrenia and bipolar disorder in multi-affected families of Eastern Quebec Principal Investigator: Michel Maziade

Affiliation: Université Laval

Poor sleep and mental health: independent or overlapping risk factors for heart diseases? Principal Investigator: Norbert Schmitz

Affiliation: Institut de santé mentale Douglas, Université McGill

2015

Vegetarian diet, the metabolic syndrome, obesity and inflammatory status Principal Investigator: Isabel Fortier

Affiliation: Maelstrom, Université McGill

Comparative Effectiveness Research in the Canadian Partnership for Tomorrow Cohort Principal Investigator: Sasha Bernatsky

Affiliation: Centre de santé de l’Université McGill

Identification of genes involved in adolescent idiopathic Scoliosis Principal Investigator: Alain Moreau

Affiliation: CHU Sainte-Justine

Evaluation of coronary vascular disease among high cardiovascular risk patients in CARTaGENE Principal Investigator: Thao Huynh

Affiliation: Sanofi

Canadian Alliance for Healthy Hearts and Minds – Development of community health and health services profiles Principal Investigator: Jack Tu

Affiliation: Sunnybrook Health Sciences Centre

Simultaneous systematic monitoring of hormonal pathways in bipolar disorder using LC-based targeted and untargeted metabolomics Principal Investigator: Dajana Vuckovic

Affiliation: Université Concordia

Clinical implementation and Outcomes Evaluation of Blood-Based biomarkers for COPD management Principal Investigator: Elizabeth MacNamara

Affiliation: Hôpital général juif

2014

Human Growth Hormone Receptor: regulation of expression during development Principal Investigator: Cynthia Goodyer

Affiliation: Université McGill

Génétique de la Rhinosinusite chronique avec polypose nasale Principal Investigator: Martin Desrosiers

Affiliation: CHUM

The association between type II diabetes and physical activity in the Canadian Partnership for Tomorrow Project Principal Investigator: Zhijie (Michael) Yu

Affiliation: Dalhousie University

Étude bien-être émotionnel, facteurs métaboliques et l’état de santé Principal Investigator: Norbert Schmitz

Affiliation: Institut de santé mentale Douglas, Université McGill

The genome-wide association study of the principal components of the metabolic syndrome enriched with albumin/creatinine ratio regarding the OPTI-THERA research project Principal Investigator: Pavel Hamet

Affiliation: CHUM

Exploring the Potential of CARTaGENE for GIS-Based Epidemiology: A Pilot Study of Green Space and Mental Health Principal Investigator: Nolwenn Noisel

Affiliation: CHU Sainte-Justine, Université de Montréal

2013

Prévalence de l’insuffisance rénale chronique dans la cohorte CARTaGENE (2) Principal Investigator: François Madore

Affiliation: Hôpital Sacré-Coeur

Caractérisation des contributions génomiques et environnementales à la variation des phénotypes cardiovasculaires et métaboliques dans la population du Québec Principal Investigator: Philip Awadalla

Affiliation: CHU Sainte-Justine, Université de Montréal

Plateforme d’Innovation en Génomique des Scolioses Pédiatriques (GSP) : Des Gènes aux Tests - Diagnostiques Complets Principal Investigator: Alain Moreau

Affiliation: CHU Ste-Justine

Molecular dissection of congenital heart disease in the French Canadian population Principal Investigator: Gregor Andelfinger

Affiliation: CHU Ste-Justine

2012

Conséquences médicales de l’intégration chromosomique de l’herpès virus humain 6 Principal Investigator: Louis Flamand

Affiliation: Université Laval

Test de l’accumulation de mutations délétères lors d’expansions spatiales par séquençage d’exomes Principal Investigator: Laurent Excoffier

Affiliation: Université de Berne, Suisse

Comparative Effectiveness Research in the Canadian Partnership for Tomorrow Cohort Principal Investigator: Sasha Bernatsky

Affiliation: Centre de santé de l’Université McGill

Développement d’une plateforme pour le diagnostic moléculaire du syndrome de Zellweger au Québec Principal Investigator: Luigi Bouchard

Affiliation: Université de Sherbrooke

Analyse des caractéristiques généalogiques des participants au projet CARTaGENE Principal Investigator: Marc Tremblay

Affiliation: Université du Québec à Chicoutimi

Environment, Epigenetics, and Rheumatic Disease Principal Investigator: Sasha Bernatsky

Affiliation: Centre de santé de l’Université McGill

2010

Prévalence de l’insuffisance rénale chronique dans la cohorte CARTaGENE (1) Principal Investigator: François Madore

Affiliation: Hôpital Sacré-Coeur

2009

Methylmercury exposure and urinary metabolic profile in Cree people from Northern Quebec Principal Investigator: Pierre Ayotte

Affiliation: Centre de recherche du CHUQ, Université Laval