Publications

These publications are examples of research made possible with data from CanPath and its regional cohorts.

2013

Identification of a Breast Cancer Susceptibility Locus at 4q31.22 Using a Genome-Wide Association Study Paradigm

Authors: Yadav Sapkota,Yutaka Yasui,Raymond Lai,Malinee Sridharan,Paula J. Robson,Carol E. Cass,John R. Mackey,Sambasivarao Damaraju

The study design also encompassed the 11 variants from GWASs previously reported by various consortia between the years 2007-2009 to (i) enable comparisons of effect sizes, and (ii) identify putative prognostic variants across studies. All SNP associations reported with breast cancer were also adjusted for body mass index (BMI). We report a strong association with 4q31.22-rs1429142 (combined per allele odds ratio and 95% confidence interval = 1.28 [1.17-1.41] and P combined = 1.5×10(-7)), when adjusted for BMI.

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2013

Cohort profile of the CARTaGENE study: Quebec’s population-based biobank for public health and personalized genomics

Authors: Philip Awadalla, Catherine Boileau, Yves Payette, Youssef Idaghdour, Jean-Philippe Goulet, Bartha Knoppers, Pavel Hamet, Claude Laberge

Over 20 000 participants consented to visiting 1 of 12 assessment sites where detailed health and socio-demographic information, physiological measures and biological samples (blood, serum and urine) were captured for a total of 650 variables. Significant correlations of diseases and chronic conditions are observed across these regions, implicating complex interactions, some of which we describe for major chronic conditions.

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2013

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

Authors: Mark E Samuels , Jacek Majewski, Najmeh Alirezaie, Isabel Fernandez, Ferran Casals, Natalie Patey Hélène Decaluwe, Isabelle Gosselin, Elie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valerie Marchand, Jacques L Michaud Marc-André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Francoise Le Deist, Philip Awadalla, Vincent Raymond,Bruno Maranda

Cogenital Multiple Intestinal Atresia is a fatal disorder that can cause organs to shutdown and obstructions in the small and large intestines. They looked a 5 different families to determine the gene structure and found that TTC7A is likely a causal gene for MIA.

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2013

Assessing SNP-SNP Interactions among DNA Repair, Modification and Metabolism Related Pathway Genes in Breast Cancer Susceptibility

Authors: Yadav Sapkota,John R. Mackey,Raymond Lai,Conrado Franco-Villalobos,Sasha Lupichuk,Paula J. Robson,Karen Kopciuk,Carol E. Cass,Yutaka Yasui,Sambasivarao Damaraju

Our results provide a framework for evaluating SNPs showing statistically weak but reproducible single-locus effects for epistatic effects contributing to disease susceptibility.

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2013

ETHNOPRED: a novel machine learning method for accurate continental and sub-continental ancestry identification and population stratification correction

Authors: Mohsen Hajiloo, Yadav Sapkota, John R Mackey, Paula Robson, Russell Greiner & Sambasivarao Damaraju

This study looked at ways of getting around the limits of self-declared ancestry, ancestry information markers, genomic control, structured association, and principal component analysis. They found ETHNOPRED to be a good alternative.

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2013

Breast cancer prediction using genome wide single nucleotide polymorphism data

Authors: Mohsen Hajiloo, Babak Damavandi, Metanat HooshSadat, Farzad Sangi, John R Mackey, Carol E Cass, Russell Greiner & Sambasivarao Damaraju

These researchers studied 696 female participants and used an SNC model to determine whether a new subject would develop breast cancer or not.

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2013

Linking Canadian Population Health Data: Maximizing the Potential of Cohort and Administrative Data

Authors: Dany Doiron, Parminder Raima, Isabel Fortier

Linking data collected by large cohort studies would afford ways for great research to advance and get information about disease. This article affirms that the cohorts are aware of the challenges involved, and are committed to working hard with stakeholders.

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2012

Prevalence of meeting physical activity guidelines for cancer prevention in Alberta

Authors: F. E. Aparicio-Ting, C. M. Friedenreich, K. A. Kopciuk, R. C. Plotnikoff, H. E. Bryant,

They looked at the guidelines for physical activity of 14294 particpants between the ages of 35-64 and found 23-55% of participants met the guidelines, depending on which one they were being measured against (CSEP, ACS, USDHHS, WCRF/AICR). Women were less likely to reach certain guidelines than men were. Study concluded that people in Alberta, mostly women were not active enough for cancer prevention benefits.

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2012

A two-stage association study identifies methyl-CpG-binding domain protein 2 gene polymorphisms as candidates for breast cancer susceptibility

Authors: Yadav Sapkota, Paula Robson, Raymond Lai, Carol E Cass, John R Mackey & Sambasivarao Damaraju

This study looked at a two-stage association design using markers from a genome-wide study. They restricted their analysis to DNA polymorphisms and selected 22 SNPS. There were certain SNPs that were found to be relevant to breast cancer susceptibility in populations.

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2011

Hours spent and energy expended in physical activity domains: Results from The Tomorrow Projectcohort in Alberta, Canada

Authors: Ilona Cszimadi, Geraldine Lo Siou, Christine Friedenreich, Neville Owen, Paula Robson

A survey called Past Year Total Physical Activity Questionnaire had 15591 participants that dealt with the amount of phyiscal activity each person got. Those who were considered inactive got most of their activty at work. One suggestion was that environmental and policy changes could be amended so that more energy could be expended, and there would be less sitting time.

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