Publications

2023

L. Dessureault, G. Roy, P. Couture, A. Gangloff, M. Guasch-Ferré, et al. Relationship between lifestyle habits and cardiovascular risk factors in familial hypercholesterolemia, Nutr Metab Cardiovasc Dis.

A.-F.Turcotte, S. Jean, S.N. Morin, F. Mac-Way, C. Gagnon Added value of waist circumference to body mass index for predicting fracture risk in obesity: a prospective study from the CARTaGENE cohort, Arch Osteoporos., Volume et issue: 18 (1), Page : 92

M. Darvishian, A. Moustaqim-Barrette, P. Awadalla, P. Bhatti, P. Broet, et al. Provincial Variation in Colorectal Cancer Screening Adherence in Canada; evidence from the Canadian Partnership for Tomorrow’s Health (CanPath), Front. Oncol., Volume et issue: 13, Page : 1113907

L. Anderson-Trocmé, D. Nelson, S. Zabad , A. Diaz-Papkovich, I. Kryukov, et al. On the genes, genealogies, and geographies of Quebec, Science., Vol. 380, p. 849-855

Y. Wu, S.B. Goleva, L.B. Breidenbach, M. Kim, S. MacGregor, M.J. Gandal, L.K. Davis, N.R. Wray 150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility, Cell Genom., Volume et issue: 3(7), Page : 100326

D.E. O'Sullivan, T.W.R. Hillier, D.R. Brenner, C.E. Peters, W.D. King Time spent in the sun and the risk of developing non-Hodgkin lymphoma: a Canadian cohort study, Cancer Causes Control.

M. Bahda, J. Ricard, S.L. Girard, M. Maziade, M. Isabelle, A. Bureau Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits, Journal: HGG Adv., 4(3) : 100209

M. Drouin, S. Rochette, M. St-Louis, A. Lewin, J. Laganière Prevalence of weak D phenotypes in the general population of Québec, Canada: A focus on weak D type 42, Vox Sang., Volume et issue: 118(7), Page : 577-581

H.-M. Vasiliadis, J. Spagnolo, M.-J. Fleury, J.-P. Gouin, P. Roberge, et al. Mental health service use and associated predisposing, enabling and need factors in community living adults and older adults across Canada, BMC Health Serv Res., 23(1) : 357

R. Jantzen, N. Ezer, S. Camilleri-Broët, M.C. Tammemägi, P. Broët Evaluation of the accuracy of the PLCOm2012 6-year lung cancer risk prediction model among smokers in the CARTaGENE population-based cohort, CMAJ Open., 11(2) : E314-E322

A.-F. Turcotte, S. Jean, S.N. Morin, F. Mac-Way, C. Gagnon Relationships Between Obesity and Incidence of Fractures in a Middle-Aged Population: A Study from the CARTaGENE Cohort, JMBR Plus., 7(5) : e10730

M.-A. d'Entremont, D. Ko, A.T. Yan, S.G. Goodman, J. Ni et al. Race and Ethnicity with Atherosclerotic Cardiovascular Disease Outcomes within a Universal Healthcare System: Insights from the CARTaGENE study, Can J Cardiol., Volume et issue: 39(7), Page : 925-932

C.T. Fierheller, W.M. Alenezi, C. Serruya, T. Revil, S. Amuzu et al. Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene, Journal: Genes (Basel)., 14(2): 277

K. Gilham, A. Gadermann, T. Dummer, R.A. Murphy Mental health, cancer risk, and the mediating role of lifestyle factors in the CARTaGENE cohort study, Plos One., 18(2): e0281588

E. Nepotchatykh, I. Caraus, W. Elremaly, C. Leveau, M. Elbakry, et al. Circulating microRNA expression signatures accurately discriminate myalgic encephalomyelitis from fibromyalgia and comorbid conditions, Sci Rep., 13(1) : 1896

2022

F. Lona-Durazo, R. Thakur, E. Pairo-Castineira, K. Funderburk, T. Zhang, et al. Investigating the genetic architecture of eye colour in a Canadian cohort, iScience, 25(6): 104485

M. P. Harwood, I. Alves, H. Edgington, M. Agbessi, V. Bruat, D. Soave, F. C. Lamaze, M.-J. Favé, P. Awadalla Recombination affects allele-specific expression of deleterious variants in human populations, Sci Adv., 8 (19): eabl3819

L.-C. Desbiens, C. Fortier, A.-C. Nadeau-Fredette, F. Madore, B. Hametner, and al. Prediction of Cardiovascular Events by Pulse Waveform Parameters: Analysis of CARTaGENE, J Am Heart Assoc. 11(17): e026603

L.-C. Desbiens, A. Sidibé, R.-V. Ung, F. Mac-Way, FGF23-Klotho axis and fractures in patients without and with early CKD: A case-cohort analysis of CARTaGENE , J Clin Endocrinol Metab. 107(6): e2502-e2512

D. Nada, C. Julien,S. Papillon-Cavanagh, J. Majewski, M. Elbakry, W. Elremaly, M.E. Samuels, A. Moreau, Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis, Sci Rep. 12(1): 12298

R.A. Murphy, M. Darvishian, J. Qia et al., Lifestyle factors and lung cancer risk among never smokers in the Canadian Partnership for Tomorrow’s Health (CanPath), Cancer Causes & Control 33(6):913-918

S. Moayedi-Nia, R. Pasquet, J. Siemiatycki, A. Koushik, V. Ho, Occupational Exposures and Lung Cancer Risk - An Analysis of the CARTaGENE Study, J Occup Environ Med. 64(4):295-304

C. Liao, C.-E. Castonguay, K. Heilbron, V. Vuokila, M. Medeiros, G. Houle, et al., Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis, JAMA Neurology 79(2):185-193

J. M. Luu, C. Gebhard, C. Ramasundarahettige, D. Desai, K. Schulze, F. Marcotte, et al., Normal sex and age-specific parameters in a multi-ethnic population: a cardiovascular magnetic resonance study of the Canadian Alliance for Healthy Hearts and Minds cohort, Journal of Cardiovascular Magnetic Resonance 24(1):2

S.S. Anand, M.G. Friedrich, D.S. Lee, P. Awadalla, J.P. Després, et al., Evaluation of Adiposity and Cognitive Function in Adults, JAMA Netw Open. 5(2): e2146324

C.B. Joseph, M. Mariniello, A. Yoshifuji, G. Schiano, J. Lake, et al., Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin, Clin J Am Soc Nephrol 33(3): 511-529

2021

S. Fournier, Y. Dauvilliers, S.C. Warby, M. Labrecque, A. Zadra, et al. Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?, J Sleep Res., 31(4) : e13537

I. E. Elkholi, M. Di Iorio, S. Fahiminiya, S. L. Arcand, H. Han, C. Nogué, S. Behl, N. Hamel, S. Giroux, M. de Ladurantaye, O. Aleynikova, W. H. Gotlieb, J.-F. Côté, F. Rousseau, P. N. Tonin, D. Provencher, et al. , Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer, Sci Rep. 11 (1): 2409

U. Võsa, A. Claringbould, H.J. Westra, M.J. Bonder, P. Deelen et al., Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression, Nat. Genet. 53(9):1300-1310

A. Béliveau, A-M Castilloux, C. Tannenbaum, P. Vincent, C. Soares de Moura, S. Bernatsky, Y. Moride, Predictors of long-term use of prescription opioids in the community-dwelling population of adults without a cancer diagnosis: a retrospective cohort study, CMAJ Open. 9 (1) : E96-E106

L.A. van Tuijl, A.C. Voogd, A. de Graeff, A.W. Hoogendoorn, A.V. Ranchor, et al., Psychosocial factors and cancer incidence (PSY-CA): Protocol for individual participant data meta-analyses, Brain Behav. 11(10): e2340

Y. Zeng, K. Zhao, K. Oros Klein, X. Shao, M.J. Fritzler, M. Hudson, I. Colmegna, T. Pastinen, S. Bernatsky, C.M.T. Greenwood , Thousands of CpGs Show DNA Methylation Differences in ACPA-Positive Individuals, Genes 12(9): 1349

R. Jantzen, Y. Payette, T. de Malliard, C. Labbé, N. Noisel, P. Broët, Validation of breast cancer risk assessment tools on a French-Canadian population-based cohort, BMJ Open 11(4)

A. Nouwen, S.S. Deschênes, Z. Balkhiyarova, J.R. Albertorio-Díaz, I. Prokopenko, N. Schmitz, Measurement invariance testing of the patient health questionnaire-9 (PHQ-9) across people with and without diabetes mellitus from the NHANES, EMHS and UK Biobank datasets, J Affect Disord. 292: 311-318

M. D'Entremont, E. L. Couture, M. Nguyen, J. Ni, A. Yan, D. Ko, S. Abhinav, S. Goodman and T. Huynh, Racial/ethnic differences in cardiovascular outcomes in a universal healthcare system: insights from the CARTaGENE cohort, European Heart Journal 42: S1

R. Durrani, M. G. Friedrich, K. M. Schulze, P. Awadalla, K. Balasubramanian, S. E. Black, P. Broet, D. Busseuil, D. Desai and T. Dummer, Effect of Cognitive Reserve on the Association of Vascular Brain Injury With Cognition: Analysis of the PURE and CAHHM Studies, Neurology 97(17): e1707-e1716

F. Lona-Durazo, M. Mendes M, R. Thakur, K. Funderburk, T. Zhang, M.A. Kovacs, et al., A large Canadian cohort provides insights into the genetic architecture of human hair colour., Communications Biology 4:1253

F. Ferri, S. S. Deschênes, N. Power and N. Schmitz, Associations between cognitive function, metabolic factors and depression: A prospective study in Quebec, Canada., J Affect Disord. 283: 77-83

S. Fournier, Y. Dauvilliers, S.C. Warby, M. Labrecque, A. Zadra, S. Boucetta, et al., Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?, J Sleep Res. 2021 Dec 15;e13537

E. Graham, Deschênes, S. S., Rosella, L. C., & Schmitz, N. , Measures of depression and incident type 2 diabetes in a community sample, Annals of Epidemiology 55:4-9

G. Huguet, C. Schramm, E. Douard, P. Tamer, A. Main, P. Monin, J. England, K. Jizi, T. Renne, M. Poirier, et al., Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability, Molecular psychiatry 26:2663-2676

R. Jantzen, N. Noisel, S. Camilleri-Broet, C. Labbé, T. de Malliard, Y. Payette and P. Broet, Epidemiological characteristics of the COVID-19 spring outbreak in Quebec, Canada: a population-based study, BMC Infect. Dis. 21(1):435

N. Li, M. Zethoven, S. McInerny, L. Devereux, Y.-K. Huang, N. Thio, D. Cheasley, S. Gutiérrez-Enríquez, A. Moles-Fernández and O. Diez, Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects, NPJ Breast Cancer 7(1):1-12

J.M. Luu, A. K. Sergeant, S. S. Anand, D. Desai, K. Schulze, B. M. Knoppers, M. n. H. Zawati, E. E. Smith, A. R. Moody and S. E. Black, The impact of reporting magnetic resonance imaging incidental findings in the Canadian alliance for healthy hearts and minds cohort, BMC Medical Ethics 22(1): 1-15

L. Touma, M. Labrecque, M. Tetreault and A. Duquette, Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec., Sci Rep. 11(1): 10344

M. Labrecque, L. Touma, C. Bhérer, A, Duquette & M. Tétreault, Estimated prevalence of Niemann–Pick type C disease in Quebec, Sci Rep. 11 (2): 22621

C.T. Fierheller, L. Guitton-Sert, W.M. Alenezi, T. Revil, K.K. Oros , Y. Gao, K. Bedard, S.L. Arcand, C. Serruya, S. Behl, L. Meunier, H. Fleury, E. Fewings, D.N. Subramanian, J. Nadaf, J.P. Bruce, R. Bell, D. Provencher, W.D. Foulkes, Z. El Haffaf, A.-M., A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene, Genome Med. 13(1):186

C. S. Moura, Y. Payette, C. Boileau, M. Abrahamowicz, L. Pilote, Agreement in the CARTaGENE cohort between self-reported medication use and claim data, Chronic Illn

I. Gamache , M.A. Legault, J.C. Grenier, R. Sanchez, E. Rhéaume, S. Asgari, A. Barhdadi, Y.F. Zada, H. Trochet, Y. Luo, L. Lecca, M. Murray, S. Raychaudhuri, J.C. Tardif JC, M.P. Dubé, J. Hussin, A sex-specific evolutionary interaction between ADCY9 and CETP, eLife 10: e69198

2020

Y. Payette, C.S. De Moura, C. Boileau, S. Bernatsky, N. Noisel, Is there an agreement between self-reported medical diagnosis in the CARTaGENE cohort and the Québec administrative health databases?, Int J Popul Data Sci. 5(1): 1155

M.E. Dupuis, A.C. Nadeau-Fredette, F. Madore, M. Agharazii, R. Goupil, Association of Glomerular Hyperfiltration and Cardiovascular Risk in Middle-Aged Healthy Individuals, JAMA Netw Open. 3(4): e202377

S. Behl, N. Hamel, M. de Ladurantaye, S. Lepage, R. Lapointe, A.M. Mes-Masson, W.D. Foulkes, Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls, Sci Rep. 10(1): 6491

J. Duhazé, R. Jantzen, Y. Payette, T. De Malliard, C. Labbé, N. Noisel, P. Broët, Quantifying the Predictive Accuracy of a Polygenic Risk Score for Predicting Incident Cancer Cases : Application to the CARTaGENE Cohort, Front Genet. 11:408

N. Zhao, A. Smargiassi, M. Hatzopoulou, I. Colmegna, M. Hudson, M.J. Fritzler, P. Awadalla, S. Bernatsky, Long-term exposure to a mixture of industrial SO 2, NO 2, and PM 2.5 and anti-citrullinated protein antibody positivity, Environ Health. 19(1):86

F. Akçimen, J. P. Ross, F. Sarayloo, C. Liao, R. De Barros Oliviera, J. A. Ruskey, C. V. Bourassa, P.A. Dion, L. Xiong, Z. Gan-Or, G.A. Rouleau, Genetic and epidemiological characterization of restless legs syndrome in Québec., Sleep. zsz265

N. Zhao, A. Smargiassi, I. Colmegna, M. Hudson, M. Fritzler, S. Bernatsky, Sunlight exposure, sun-protective behaviour, and anti-citrullinated protein antibody positivity: A general population-based study in Quebec, Canada, Arthritis Care Res. 74(2):236-242

N. Power, S.S. Deschênes, F. Ferri, N. Schmitz, Job strain and the incidence of heart diseases: A prospective community study in Quebec, Canada, J Psychosom Res. 139:110268

H. C. Gerstein, E. E. Smith, C. Ramasundarahettige, D. Desai, P. Awadalla, P. Broet, S. Black, T. J. B. Dummer, J. Hicks, A. Moody, J-C Tardif, K. K. Teo, J. Vena, S. Yusuf, D. S. Lee, M. G. Friedrich, S. S. Anand, Diabetes, Brain Infarcts, Cognition and Small Vessels in the Canadian Alliance for Healthy Hearts and Minds Study, J Clin Endocrinol Metab.

M. Khalili, F. Lepeytre, J. Guertin, R. Goupil, S. Troyanov, J. Bouchard, F. Madore, Impact of updated recommendations on acetylsalicylic acid use for primary prevention of cardiovascular disease in Canada: a population-based survey, CMAJ Open. 8(1): E41-E47

R. E. Hall, N. Tusevljak, C. F. Wu, Q. Ibrahim, K. Schulze, A. M. Khan, D. Desai, P. Awadalla, P. Broet, T. J. B. Dummer, J. Hicks, J-C Tardif, K. K. Teo, J. Vena, D. Lee, M. Friedrich, S. S. Anand, J.Tu, The Canadian Alliance for Healthy Hearts and Minds: How Well Does It Reflect the Canadian Population?, CJC Open 2(6):599-609

D. Vuckovic, E.L. Bao, P. Akbari, C.A. Lareau, A. Mousas, et al., The Polygenic and Monogenic Basis of Blood Traits and Diseases, Cell. 182(5):1214-1231.e11

L.C. Desbiens, A. Sidibé, C. Beaudoin, S. Jean, F. Mac-Way, Comparison of Fracture Prediction Tools in Individuals Without and With Early Chronic Kidney Disease: A Population-Based Analysis of CARTaGENE, J Bone Miner Res. 35(6):1048-1057

F. Lamarche, M. Agharazii, F. Madore, R. Goupil, Prediction of Cardiovascular Events by Type I Central Systolic Blood Pressure, Hypertension. 71(3): 415-421

H. C. Gerstein, E. E. Smith, C. Ramasundarahettige, D. Desai, P. Awadalla, P. Broet, S. Black, T. J. B. Dummer, J. Hicks, A. Moody, J-C Tardif, K. K. Teo, J. Vena, S. Yusuf, D. S. Lee, M. G. Friedrich, S. S. Anand, Diabetes, Brain Infarcts, Cognition and Small Vessels in the Canadian Alliance for Healthy Hearts and Minds Study, J Clin Endocrinol Metab.

S. Anand, M. Friedrich, D. Desai, K. Schulze, P. Awadalla, et al., Reduced Cognitive Assessment Scores Among Individuals With Magnetic Resonance Imaging–Detected Vascular Brain Injury, Stroke. 51(4):1158-1165

2019

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. 12(6):e002481

H.D. Hosgood III, M. Klugman, K. Matsuo, A.J. White, A. Sadakane, X.O. Shu, R. Lopez-Ridaura, A. Shin, I. Tsuji, R. Malekzadeh, Nolwenn Noisel et al., The Establishment of the Household Air Pollution Consortium (HAPCO), Atmos. 10(7): 422

S.S Deschênes, R.J. Burns, E. Graham, N. Schmitz, Depressive symptoms and sleep problems as risk factors for heart disease: a prospective community study, Epidemiol Psychiatr Sci. 1-10

F. Allum, Å.K. Hedman, X. Shao, W.A. Cheung, J. Vijay, F. Guénard, T. Kwan, M.M. Simon, B. Ge, C. Moura, L. Rönnblom, S. Bernatsky, M. Lathrop, M.I. McCarthy, P. Deloukas, A. Tchernof, T. Pastinen, M.C. Vohl, E. Grundberg, Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements, Nat Commun. 10(1):1209

X. Shao, M. Hudson, I. Colmegna, C.M.T. Greenwood, M.J. Fritzler, P. Awadalla, T. Pastinen, S. Bernatsky, Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing., Clin Epigenetics. 11(1):110

S.S. Anand, J. Tu, P. Awadalla, P. Robson, S. Jacquemont, et al. , Cardiovascular risk scoring and magnetic resonance imaging detected subclinical cerebrovascular disease, Eur Heart J Cardiovasc Imaging. 21(6):692-700

S. Glentis, A. C. Dimopoulos, K. Rouskas, G. Ntritsos, E. Evangelou, S. A. Narod, A. M. Mes-Masson, W. D. Foulkes, B. Rivera, P. N. Tonin, J. Ragoussis, A. S. Dimas, Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer., Front Genet. 18(10): 1005

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

D. Nielsen, Y. Han, C. Paquet, AK. Portella, Y. Ma, L. Dube, Interaction of DRD2/ANKK1 Taq1A Genotype with in-Store Retail Food Environment Exposures on Diet Quality in a Cohort of Quebec Adults, Lifestyle Genom. 13(1) : 1-52

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

Z. Slim, C.S. Moura, S. Bernatsky, E. Rahme, Identifying Rheumatoid Arthritis Cases Within the Quebec Health Administrative Database, J Rheumatol. 46(12):1570-1576

Z. Slim, C.S. Moura, S. Bernatsky, E. Rahme, Care quality for rheumatoid arthritis patients in Quebec, Int J Rheum Dis. 22(7):1233-1238

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

2018

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, Am J Med Genet B Neuropsychiatr Genet. 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

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, J Hypertens. 36(3):495-501

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

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, Nat 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. 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

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

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

2013

D. Doiron, P. Raina and I. Fortier, Linking Canadian population health data: maximizing the potential of cohort and administrative data, Can J 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

2023

Étude sur les effets fondateurs Principal Investigator: Simon Girard

Affiliation: Université du Québec à Chicoutimi

Sélection et estimation de variables par régression expectile en présence d'erreurs de mesure et de données manquantes Principal Investigator: Amadou Barry

Affiliation: Institut national de la recherche scientifique

Diagnostic moléculaire au Centre de Génétique Cardiovasculaire de l'Institut de Cardiologie de Montréal: Une étude rétrospective sur 14 ans Principal Investigator: Rafik Tadros

Affiliation: Institut de Cardiologie de Montréal

Genomics in the CARTaGENE Cohort Principal Investigator: Simon Gravel

Affiliation: McGill

Estimation du taux de porteurs au Québec pour différentes conditions autosomiques récessives via données CARTaGENE Principal Investigator: Anne-Marie Laberge

Affiliation: CHU Sainte-Justine

2022

HYDIN in plain sight - Undiscovered Primary Ciliary Dyskinesia in Quebec via the HYDIN gene Principal Investigator: Adam Shapiro

Affiliation: McGill

Vers un éclairage nouveau sur le diagnostic de la maladie de Lyme à l’aide de capteurs glucidiques Principal Investigator: Denis Giguère

Affiliation: Université Laval

2021

Étude de la relation entre la pharmacothérapie et les habitudes de vie dans la prévention des maladies cardiovasculaires Principal Investigator: Jean-Philippe Drouin-Chartier

Affiliation: Université Laval

Assessing the Relative and Absolute Risk for Site-Specific Cancer Mortality Attributed to Household Air Pollution Principal Investigator: Dean Hosgood

Affiliation: Albert Einstein College of Medicine

Exposure to perfluoroalkyl substances and age at menopause in the Canadian prospective cohort study CARTaGENE Principal Investigator: Michael Borghese

Affiliation: Santé Canada / Health Canada

Improving understanding of the role of genetic variations in human disease and disease-related traits and integrating this knowledge into discovery of new drug targets and disease risk prediction Principal Investigator: Vincent Mooser

Affiliation: McGill

Gene mapping and genetic correlation across complex traits Principal Investigator: Stuart MacGregor

Affiliation: QIMR Berghofer Medical Research Institute

Host genomics of COVID-19 Principal Investigator: Julie Hussin

Affiliation: Institut cardiologie de Montréal

The development of sex-specific prediction models for cardiovascular and neurological health Principal Investigator: Sarah Gagliano Taliun

Affiliation: Institut cardiologie de Montréal

2020

Characterization of psychiatric polygenic determinants in Quebec Principal Investigator: Guy Rouleau

Affiliation: McGill

Habitudes de vie, métabolites plasmatiques et santé cardiovasculaire dans une cohorte d’individus avec hypercholestérolémie familiale hétérozygote Principal Investigator: Jean-Philippe Drouin-Chartier

Affiliation: Université Laval

Susceptibility genes and molecular drivers of lung cancer Principal Investigator: Yohan Bossé

Affiliation: Université Laval

Investigating the role of non-coding variations in epilepsy Principal Investigator: Simon Girard

Affiliation: Université du Québec à Chicoutimi

Investigation of Biomarkers of Radiation Exposure in Radon Cohorts Principal Investigator: Vinita Chauhan

Affiliation: Santé Canada

Genomics Deep Learning Principal Investigator: Ali Torkamani

Affiliation: The Scripps Research Institute

Using CARTaGENE data for the proof of concept research project of ARCHI (PRECINOMICS pilot): Study of genetic and clinical risk factors for cancer and cardiovascular disease Principal Investigator: Marie-Pierre Dubé

Affiliation: Institut de cardiologie de Montréal

The COVID-19 CARTaGENE project: Epidemiological and prospective cohort-based seroepidemiological surveillance study for COVID-19 infection Principal Investigator: Philippe Broët

Affiliation: CHU Ste-Justine

2019

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

Affiliation: The Université of British Columbia

Environnement bâti et santé Principal Investigator: Éric Robitaille

Affiliation: INSPQ

Signatures of cardiovascular health derived from integrated biomics, environment and lifestyle – findings from the Canadian Alliance for Healthy Hearts and Minds – CARTaGENE cohort Principal Investigator: Matthias Friedrich

Affiliation: MUHC

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

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

Depression, metabolic factors and the risk of cancer: prospective associations in the CARTaGENE study Principal Investigator: Norbert Schmitz

Affiliation: McGill

The genetic basis of hair and eye color in Canadians of European Ancestry (CanPath) Principal Investigator: Esteban Parra

Affiliation: University of Toronto

Phénotype de polymorphismes du récepteur NTS1 de la neurotensine Principal Investigator: Philippe Sarret

Affiliation: Université de Sherbrooke

Lifestyle and environmental factors, DNA methylation and lung cancer risk Principal Investigator: Vikki Ho

Affiliation: CRCHUM

Genetic Variants Associated with Pain Reduction in Patients with Low Back Pain or Neuropathic Pain Principal Investigator: Luda Diatchenko

Affiliation: McGill University

Évaluation des biomarqueurs de sénescence cellulaire chez les participants de la cohorte CARTaGENE Principal Investigator: Francis Rodier

Affiliation: CRCHUM

Evaluation of predictive models on the occurrence of breast cancer at 5 years Principal Investigator: Philippe Broët

Affiliation: CHU Ste-Justine, Université de Montréal

Essential Tremor Genome-wide Association Study Principal Investigator: Guy Rouleau

Affiliation: McGill

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

Affiliation: Université de Sherbrooke

Zoonoses : Changements climatiques et zoonoses priorisées : portrait de situation à l’aide des données de la cohorte populationnelle québécoise CARTaGENE et établissement de projets de surveillance et de recherche Principal Investigator: Nolwenn Noisel, Ariane Adam-Poupart

Affiliation: INSPQ

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

Affiliation: Université Laval

Characterization of Quebec population structure Principal Investigator: Simon Gravel

Affiliation: McGill University

2018

EpiCan (CanPath) Principal Investigator: Philip Awadalla

Affiliation: OICR

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

Affiliation: Centre Hospitalier Universitaire Sainte-Justine

Canadian Alliance for Healthy Hearts and Minds (CAHHM) (CanPath) Principal Investigator: Sonia Anand

Affiliation: McMaster

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

Affiliation: Queens University

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

Affiliation: Héma-Québec

Provincial Variation in Cancer Screening Uptake Across Canada: A Descriptive Overview (CanPath) Principal Investigator: Trevor Dummer

Affiliation: UBC

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

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

2017

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

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

Quantifying the Cancer Incidence Burden due to Lifestyle and Environment in Canada - The Canadian Population Attributable Risk of Cancer Project (ComPARe) (CanPath) Principal Investigator: Darren Brenner

Affiliation: AHS

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

Affiliation: CHU Sainte-Justine

2016

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

Association between eczema and cardiovascular and cerebrovascular morbidity (CanPath) Principal Investigator: Aaron Drucker

Affiliation: Brown University

Genomic Analysis of the Mitochondrial Transcriptome Principal Investigator: Alan Hogkinson

Affiliation: King's College London

Understanding different approaches of harmonization using individual participant data to investigate the determinants (CanPath) Principal Investigator: Isabel Fortier

Affiliation: Maelstrom, Université McGill

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

2015

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

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

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

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

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

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

Affiliation: Hôpital Sacré-Coeur

2012

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

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

Affiliation: Université Laval

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

Vers un éclairage nouveau sur le diagnostic de la maladie de Lyme à l’aide de capteurs glucidiques Principal Investigator: Denis Giguère

Affiliation: Université Laval