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Gene-By-Environment Interactions in Urban Populations Modulate Risk Phenotypes
ARTICLE DOI: 10.1038/s41467-018-03202-2 OPEN Gene-by-environment interactions in urban populations modulate risk phenotypes Marie-Julie Favé1,2, Fabien C. Lamaze1, David Soave1, Alan Hodgkinson2,3, Héloïse Gauvin2,4, Vanessa Bruat1,2, Jean-Christophe Grenier 1,2, Elias Gbeha1, Kimberly Skead1, Audrey Smargiassi5, Markey Johnson6, Youssef Idaghdour7 & Philip Awadalla1,2,8,9 Uncovering the interaction between genomes and the environment is a principal challenge of 1234567890():,; modern genomics and preventive medicine. While theoretical models are well defined, little is known of the G × E interactions in humans. We used an integrative approach to compre- hensively assess the interactions between 1.6 million data points, encompassing a range of environmental exposures, health, and gene expression levels, coupled with whole-genome genetic variation. From ∼1000 individuals of a founder population in Quebec, we reveal a substantial impact of the environment on the transcriptome and clinical endophenotypes, overpowering that of genetic ancestry. Air pollution impacts gene expression and pathways affecting cardio-metabolic and respiratory traits, when controlling for genetic ancestry. Finally, we capture four expression quantitative trait loci that interact with the environment (air pollution). Our findings demonstrate how the local environment directly affects disease risk phenotypes and that genetic variation, including less common variants, can modulate individual’s response to environmental challenges. 1 Ontario Institute for Cancer Research, Toronto, ON M5G 0A3, Canada. 2 Sainte-Justine Research Center, Faculty of Medicine, University of Montreal, Montreal, QC H3T 1C5, Canada. 3 Department of Medical and Molecular Genetics, Guy’s Hospital, King’s College London, London, WC2R 2LS, UK. -
ÉTUDES MÉDIATISÉES DANS LES MÉDIAS ET SUR LE WEB Édition Du 30 Janvier 2013
Direction de la recherche du CHU Sainte-Justine ÉTUDES MÉDIATISÉES DANS LES MÉDIAS ET SUR LE WEB Édition du 30 janvier 2013 September 28, 2012 Study of Dr. Gregor Andelfinger and Dr. Marc-Phillip Hitz Major genetic discovery explains 10 percent of aortic valve disease READ THE PRESS RELEASE Researchers at the Sainte-Justine University Hospital Center and University of Montreal have identified genetic origins in 10% of an important form of congenital heart diseases by studying the genetic variability within families. "This is more than the sum of the genes found to date in all previous studies, which explained only 1% of the disease, says Dr. Marc-Phillip Hitz, lead author of the study published in PLoS Genetics, under the direction of Dr. Gregor Andelfinger, pediatric cardiologist and principal investigator leading an international research team, who calls this study "a very important step towards a molecular catalog, which ultimately may explain the evolution of disease in individual patients and allow to influence the progression of the disease." MEDIA COVERAGE : Genome Québec Science Daily Continental News UdeMNouvelles Medical X Press AlphaGalileo Biospace Bioscholar Muckrack Healthfitnessok Breakthrough Digest Medical News Cours de médecine (5979 personnes suivent cette page sur Facebook) October 31, 2012 Study of Dr. Grant Mitchell Confirmation of nitisinone efficacy for life-threatening liver disease READ THE PRESS RELEASE A consortium of Quebec researchers coordinated by the Medical Genetics Service of the Sainte- Justine UHC has just published the findings of a 25-year study on the treatment of tyrosinemia, a life-threatening liver disease of genetic origin, which is screened at birth in the province of Quebec, where it is much more frequent than anywhere else in the world. -
An Attempt to Integrate Previous Localized Estimates of Human Inbreeding for the Whole of Britain John E
Wayne State University Human Biology Open Access Pre-Prints WSU Press 4-4-2017 An Attempt to Integrate Previous Localized Estimates of Human Inbreeding for the Whole of Britain John E. Pattison University of South Australia, [email protected] Recommended Citation Pattison, John E., "An Attempt to Integrate Previous Localized Estimates of Human Inbreeding for the Whole of Britain" (2017). Human Biology Open Access Pre-Prints. 103. http://digitalcommons.wayne.edu/humbiol_preprints/103 This Open Access Preprint is brought to you for free and open access by the WSU Press at DigitalCommons@WayneState. It has been accepted for inclusion in Human Biology Open Access Pre-Prints by an authorized administrator of DigitalCommons@WayneState. An Attempt to Integrate Previous Localized Estimates of Human Inbreeding for the Whole of Britain John E. Pattison1 1(University of South Australia) Corresponding author: Dr John E Pattison, University of South Australia, Adelaide, South Australia, Australia, 5085. Issue: 88.4 Running header: Human Inbreeding for the Whole of Britain Key words: mating relationships, consanguineous marriages, inbreeding coefficient, logistic function, historic Britain. Abstract There have been a number of previous estimates of human inbreeding for Britons of British descent in Britain; each generally for different social classes, geographical regions, and/or time periods. In this study an attempt was made to collect all relevant published studies and to combine the results of these disparate studies into an integrated whole for all of Britain. This was achieved by combining weighted means of the percentage of consanguineous marriages (f%) reported in these earlier studies: weighted according to the number of records each author examined, the proportion of social classes or geographical regions covered by the records, and the ‘merit’ of their individual research methodologies. -
COI -- Coefficient of Inbreeding
COI Coefficient of Inbreeding By Lisa Dubé Forman The science of canine husbandry can sometimes be overwhelming to many fanciers, both rookies and veterans alike. There are many technical considerations Dog Genes Decoded that factor into breeding that can confound the ordinary person. These include, the coefficient of inbreeding (COI), coefficient of relationship (COR), ancestor loss coefficient (AVK), pedigree collapse, inbreeding depression, formula approach, genetic diversity, genetic drift, and genetic loads. By and large, a fancier plans a litter with much anticipation and excitement, for perhaps, waiting in the wings, is the next sublime specimen — one slated for greatness in the wolfhound dog world. A method of approach that on the outset may sound glib, but it really is just an honest assessment as one of the compelling reasons why breeders create is to perfect, enhance and build on a breed. The better part do not wish to worsen or diminish the breed. The average breeder must understand these aforementioned technical considerations, yet, regrettably, they do not. Modern day breeding programs are based on regular appearances of significant names in pedigrees which itself is based on an ideological nineteenth-century attitude that still has a firm foothold in mainstream practices of canine husbandry. Breeders should not proceed with rudimentary information that originated from social attitudes instead of science. Even more, there is the impracticable method of basing decisions on only five generation horizontal pedigrees as sufficient evidence of the coefficient of inbreeding (COI). !1 COI Coefficient of Inbreeding By Lisa Dubé Forman Let us get right to it and begin with a few quick, simple definitions. -
Consent Environment and Nutrition
The world within you Information brochure for participants ENVIRONMENT AND NUTRITION COMPONENT Production of this brochure has been made possible through a finacial contribution from Health Canada, through the Canadian Partneship Against Cancer. Introduction CARTaGENE, a research infrastructure consisting of a database and a biobank of biological samples, was designed to facilitate research in the field of health and genomics. Purpose of this Recontact CARTaGENE is again seeking your collaboration for a new component called “Environment and Nutrition.” This new component will allow CARTaGENE to add data to its database and thus provide new data for health and genomics research. This new component will allow the collection of detailed information on your eating habits and exposure to the environment. Environment and Nutrition We now know that the food we consume and the environment where we live are related to our state of health. However, we still know relatively little about these relationships and their impact on the health of individuals. The Environment and Nutrition component aims to increase our knowledge on this subject. The Environment and Nutrition component is divided into two modules. The Environment module comes first, and the Nutrition module will follow. Your consent given for the first phase of CARTaGENE’s data and sample collection included this option to be recontacted for further studies. The Environment and Nutrition component is such a study. Your participation remains voluntary however. Before making your decision, it is important that you read this brochure and the consent forms included so as to understand the implications of participating in either or both modules of this component. -
Emotional Incest Syndrome: What to Do When a Parents Love Rules Your Life Free
FREE EMOTIONAL INCEST SYNDROME: WHAT TO DO WHEN A PARENTS LOVE RULES YOUR LIFE PDF Patricia Love,Jo Robinson | 304 pages | 01 Mar 1991 | Bantam Doubleday Dell Publishing Group Inc | 9780553352757 | English | New York, United States Covert incest - Wikipedia The lowest-priced item that has been used or worn previously. The item may have some signs of cosmetic wear, but is fully operational and functions as intended. This item may be a floor model or store return that has been used. See details for description of any imperfections. This book opened my eyes to my past and why Emotional Incest Syndrome: What to Do When a Parents Love Rules Your Life have symptoms of abuse that I couldn't pinpoint prior to reading the book. My dad and mom had never raised their voices to me or even spanked me, and they had never beat me. Yet, I felt like an abuse victim. My dad was emotionally needy and got his needs met by keeping me by his side rather than turn to another adult. I realized that not only Emotional Incest Syndrome: What to Do When a Parents Love Rules Your Life my childhood stolen but my dad invaded my spirit. I couldn't be me. I was to be his comforter at all times, with no questions asked. My best friend was dad. And this was the abuse that denied me of developing into a well-rounded individual. I have now given my testimony before 50 other people and hopefully they too can understand what Dr. Patricia Love explained with the strong term "emotional en cest", a problem that is so subtle that it can look like a loving situation between a troubled parent and a caring child. -
Emotional Incest Syndrome: What to Do When a Parents Love Rules Your Life Pdf, Epub, Ebook
EMOTIONAL INCEST SYNDROME: WHAT TO DO WHEN A PARENTS LOVE RULES YOUR LIFE PDF, EPUB, EBOOK Patricia Love,Jo Robinson | 304 pages | 01 Mar 1991 | Bantam Doubleday Dell Publishing Group Inc | 9780553352757 | English | New York, United States Emotional Incest Syndrome: What to Do When a Parents Love Rules Your Life PDF Book My first memory of being forced to spoon was probably when I was five years old. Jul 23, Norman rated it really liked it. Wag : My m. Covert incest is described as occurring when a parent is unable or unwilling to maintain a relationship with another adult and forces the emotional role of a spouse onto their child instead. There is no heaven, and no hell. This book opened my eyes to my past and why I have symptoms of abuse that I couldn't pinpoint prior to reading the book. Jul 18, Lucille Zimmerman rated it it was amazing. I listened to both chapters several times and took notes. They must be normal people who inadvertently behave in narcissistic ways. I had no choice. Betrayed as boys: psychodynamic treatment of sexually abused men. Helpful exercises on how to accept your parents, work things out with siblings and spouses, and come to terms with what happened then and now. For the healthiest families to the most toxic, you will resonate with her stories. Even the parent that bad mouths their spouse to their kid. Not fair to either me or dad, denying both of us recovery. Things I do and ways I react can be traced back to "Emotional Incest" between her and myself. -
2012–2017 Priorities for Public Health Genomics Stakeholder Consultation | Priorities Conference Report | September 2011 2012–2017
PRIORITIES FOR PUBLIC HEALTH GENOMICS GENOMICS HEALTH PUBLIC FOR PRIORITIES 2012–2017 PRIORITIES FOR PUBLIC HEALTH GENOMICS STAKEHOLDER CONSULTATION | PRIORITIES CONFERENCE REPORT | SEPTEMBER 2011 2012–2017 PRIORITIES FOR PUBLIC HEALTH GENOMICS 2012–2017 STAKEHOLDER CONSULTATION | PRIORITIES CONFERENCE REPORT SEPTEMBER 2011 Funding for this project was made possible by the Centers for Disease Control and prevention through McKing Consulting Corporation, contract 200-2009-F-32675. The contents are solely the responsibility of the authors and do not necessarily represent the official views of CDC. PREFACE Priorities for Public Health Genomics 2012–2017 This report results from an initiative of the Office of Public Health Genomics, Centers for Disease Control and Prevention (CDC/OPHG) to recommend priorities to advance the field of public health genomics during the five year period 2012–2017. CDC/OPHG initiated three activities to develop these priority recommendations: (1) an extensive consultation of public health genomics stakeholders conducted by the Center for Public Health and Community Genomics at the University of Michi- gan School of Public Health , including a) analysis of a Request for Information (RFI) issued by the Department of Health and Human Services/ CDC, b) interviews of key informants from the public health system and c) informal discussions with community- and practice-based public health practitioners; (2) interviews of key informants from the non-profit and for-profit sectors conducted by Genetic Alliance; and (3) an all-day meeting held in Bethesda, MD on September 14, 2011, attended by over 70 leaders in the field of public health genomics, based in academic institutions, public health and health care organizations, and community-based organizations. -
Challenges and Promises of Big Data in Healthcare
FOCUS | REVIEW ARTICLE FOCUS | REVIEWhttps://doi.org/10.1038/s41591-019-0727-5 ARTICLE Axes of a revolution: challenges and promises of big data in healthcare Smadar Shilo1,2,3,4, Hagai Rossman 1,2,4 and Eran Segal 1,2* Health data are increasingly being generated at a massive scale, at various levels of phenotyping and from different types of resources. Concurrent with recent technological advances in both data-generation infrastructure and data-analysis methodolo- gies, there have been many claims that these events will revolutionize healthcare, but such claims are still a matter of debate. Addressing the potential and challenges of big data in healthcare requires an understanding of the characteristics of the data. Here we characterize various properties of medical data, which we refer to as ‘axes’ of data, describe the considerations and tradeoffs taken when such data are generated, and the types of analyses that may achieve the tasks at hand. We then broadly describe the potential and challenges of using big data in healthcare resources, aiming to contribute to the ongoing discussion of the potential of big data resources to advance the understanding of health and disease. ealth has been defined as “a state of complete physical, on the volume of data needed for a dataset to be considered big5, mental and social well-being and not merely the absence of other definitions are qualitative, focusing on the size or complexity disease or infirmity”1. This definition may be expanded to of data that are too large to be properly analyzed by traditional data- H 6 view health not as a single state but rather as a dynamic process analysis methods . -
Genetic Determinants of Fat Intake and Risk Factors of Chronic Diseases
Genetic determinants of fat intake and risk factors of chronic diseases Tongzhu Meng School of Human Nutrition McGill Univeristy Montreal, Quebec, Canada August 2020 A thesis submitted to McGill University in partial fulfillment of the requirements of the degree of Master of Science ¤ Tongzhu Meng, 2020 i TABLE OF CONTENTS TITLE PAGE………………………………………………………………………………….i TABLE OF CONTENTS…………………………………………………………….……....ii ABSTRACT……………………………………………………………………………….....iii RÉSUMÉ……………………………………………………………………………………...v ACKNOWLEDGMENTS……………………………………………………………….....vii CONTRIBUTION OF AUTHORS………………………………………………………..viii LIST OF TABLES……………………………………………………………………….......ix LIST OF FIGURES………………………………………………………………………......x LIST OF ABBREVIATIONS……………………………………………………………….xi CHAPTER 1: RATIONALE AND OBJECTIVES ….………………………………….....1 1.1 Rationale…………………………………………………………………………………2 1.2 Hypotheses ………………………………………………………………………………4 1.3 Objectives …………………………………………………………………………….....4 CHAPTER 2: LITERATURE REVIEW…………………………………………………....5 2.1 General taste……………………………………………………………………………..6 2.2 Taste physiology………………………………………………………………………....7 2.2.1 The taste system and taste bud cell types………………………………………...7 2.2.2 Signaling mechanisms of taste perception……………………………………...11 2.3 Fat taste…………………………………………………………………………………12 2.3.1 Fat taste receptor………………………………………………………………..13 2.3.2 Fat, diet and adiposity…………………………………………………………..15 2.3.3 Measurements of the oral fatty acid threshold, fat perception, fatty food liking...19 2.4 Types of fat and lipid absorption ……………………………….………………………20 -
Marcel Proust
LINKs – series 5-6 Marcel Proust Grégory Chatonsky, Terre Seconde, Vue d’exposition alt+R, Alternative Réalité, Palais de Tokyo, 2019 © Jean Christophe Lett pour Audi talents. Louis-José Lestocart (dir.) Je souhaite aux lecteurs de LINKs-series une très bonne année 2021. Celle qui vient de s’écouler a vu l’irruption d’un curieux invité dans nos vies, invité non prévu et encore là, s’étant répandu en tous lieux, institutions, foyers. Des morts sont survenues, des malades aussi. À LINKs, au moins l’un des auteurs a eu le Covid, et plusieurs autres n’ont pu s’empêcher dans leurs articles, soit de faire allusion à la pandémie, soit d’en parler ou- vertement. Un décès au sein de Transcultures, notre partenaire depuis quelque temps, est aussi à déplorer. Cette situation dramatique n’a pas empêché LINKs de se constituer. L’idée de départ était de faire un dossier sur Marcel Proust. Quelqu’un du cru devait s’en charger. Mais face à son abandon, on s’en est occupé. Ce dossier a pu être réalisé sans trop d’encombre, et même assez vite, via l’aide précieuse de quelques personnes autorisées sur la question. Il en est bientôt ressorti onze articles écrits souvent par les meilleurs spécialistes (français et étrangers) de l’écrivain et qui ont été alors répartis en deux volets entre les numéros 5 et 6. Ces deux dossiers Proust 1 et 2 sont aussi illustrés par des photographies spécialement réalisées pour LINKs par l’artiste italien Dmitrije Roggero (déjà présent dans le numéro 3) en collaboration avec le sculpteur Fabrizio Amante. -
Platform Abstracts
American Society of Human Genetics 66th Annual Meeting October 18–22, 2016 VANCOUVER, CANADA PLATFORM ABSTRACTS Tuesday, October 18, 5:00-6:20 pm: Abstract #’s Friday, October 21, 9:00-10:30 am, Concurrent Platform Session D: 2 Featured Plenary Abstract Session I Ballroom ABC, #1-#4 48 Mapping Cancer Susceptibility Alleles Ballroom A, West #189-#194 West Building Building 49 The Genetics of Type 2 Diabetes and Glycemic Ballroom B, West #195-#200 Wednesday, October 19, 9:00-10:30 am, Concurrent Platform Session A: Traits Building 6 Interpreting Variants of Uncertain Significance Ballroom A, West #5-#10 50 Chromatin Architecture, Fine Mapping, and Ballroom C, West #201-#206 Building Disease Building 7 Insights from Large Cohorts: Part 1 Ballroom B, West #11-#16 51 Inferring the Action of Natural Selection Room 109, West #207-#212 Building Building 8 Rare Germline Variants and Cancer Risk Ballroom C, West #17-#22 52 The Many Twists of Single-gene Cardiovascu- Room 119, West #213-#218 Building lar Disorders Building 9 Early Detection: New Approaches to Pre- and Room 109, West #23-#28 53 Friends or Foes? Interactions of Hosts and Room 207, West #219-#224 Perinatal Analyses Building Pathogens Building 10 Advances in Characterizing the Genetic Basis Room 119, West #29-#34 54 Novel Methods for Analyzing GWAS and Room 211, West #225-#230 of Autism Building Sequencing Data Building 11 New Discoveries in Skeletal Disorders and Room 207, West #35-#40 55 From Gene Discovery to Mechanism in Room 221, West #231-#236 Syndromic Abnormalities Building