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Your search keyword '"MESH : European Continental Ancestry Group"' showing total 10 results
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10 results on '"MESH : European Continental Ancestry Group"'

1. Genetic variability of the forkhead box O3 and prostate cancer risk in the European Prospective Investigation on Cancer

Author

Rudolf Kaaks, Eva Ardanaz, Heiner Boeing, María José Sánchez, Domenico Palli, Nicholas J. Wareham, Tina Karapetyan, Sabina Sieri, Mazda Jenab, Nina Roswall, Kim Overvad, Anne Tjønneland, Ruth C. Travis, Afshan Siddiq, José María Huerta, Anika Hüsing, Angelika Stein, H. Bas Bueno-de-Mesquita, Federico Canzian, Nerea Larrañaga, Mattias Johansson, Kay-Tee Khaw, Lucie Dostal, Jane Nautrup Østergaard, David Cox, Laudina Rodríguez, Daniele Campa, Rosario Tumino, Catalina Bonet, Per Lenner, Naomi E. Allen, Paolo Vineis, Dimosthenis Zylis, Dagmar Drogan, Antonia Trichopoulou, Department of Cancer Epidemiology, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Department of Epidemiology, German Institute of Human Nutrition Potsdam-Rehbruecke, German Institute of Human Nutrition Potsdam-Rehbrücke, German Institute of Human Nutrition Potsdam-Rehbrücke (DIfE), Cancer Epidemiology Institute, Danish Cancer Society, Department of Cardiology, Aarhus University Hospital, Public Health and Participation Directorate, Health and Health Care Services Council, Catalan Institute of Oncology, Consorcio de Investigación Biomédica en Red especializado en Epidemiología y Salud Pública (CIBERESP), Los Centros de Investigación Biomédica en Red (CIBER), Granada Cancer Registry, Andalusian School of Public Health [Granada], Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), CIBER de Epidemiología y Salud Pública (CIBERESP), Murcia Regional Health Authority, Navarra Public Health Institute, Leyre 15, School of Clinical Medicine, University of Cambridge [UK] (CAM), Epidemiology Unit, Medical Research Council, Cancer Epidemiology Unit, University of Oxford [Oxford]-Cancer Epidemiology Unit, Department of Hygiene, Epidemiology and Medical Statistics, Molecular and Nutritional Epidemiology Unit, ISPO-Cancer Research and Prevention Institute, Nutritional Epidemiology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Cancer Registry, Civile - M.P.Arezzo Hospital, Centre for Environment and Health, Imperial College London-School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU), Human Genetics Foundation (HuGeF), Università degli studi di Torino (UNITO), National Institute for Public Health and the Environment [Bilthoven] (RIVM), Department of Oncology and Radiation Sciences, Oncology, Umea University Hospital, Unit of Nutrition, Environment, and Cancer, Equipe 6, Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Department of Epidemiology and Biostatistics, Imperial College London-Faculty of Medicine-School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU)-Imperial College London-Faculty of Medicine-School of public health, Department of Epidemiology and Biostatistics, Department of Genomics of Common Disease, Division of Cancer Epidemiology, German Cancer Research Center, German Cancer Research Center (DKFZ), Aalborg Hospital-Aarhus University Hospital, Consorcio de Investigación Biomédica en Red especializado en Epidemiología y Salud Pública ( CIBERESP ), Andalusian School of Public Health, University of Cambridge [UK] ( CAM ), Azienda Ospedaliera 'Civile M.P.Arezzo', Human Genetics Foundation ( HuGeF ), Università degli studi di Torino ( UNITO ), National Institute for Public Health and the Environment [Bilthoven] ( RIVM ), Centre de Recherche en Cancérologie de Lyon ( CRCL ), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Department of Epidemiology and Biostatistics, and Imperial College London-Faculty of Medicine-School of public health-Imperial College London-Faculty of Medicine-School of public health

Subjects
Oncology, Male, MESH: Signal Transduction, Cancer Research, MESH : Aged, MESH : Genotype, 030204 cardiovascular system & hematology, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, Cohort Studies, MESH: Genotype, Prostate cancer, 0302 clinical medicine, Risk Factors, MESH: Risk Factors, genetic variability, MESH: Cohort Studies, media_common, MESH: Aged, 0303 health sciences, education.field_of_study, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH : Polymorphism, Single Nucleotide, Forkhead Box Protein O3, Longevity, MESH: Genetic Predisposition to Disease, Forkhead Transcription Factors, General Medicine, MESH: European Continental Ancestry Group, MESH : Adult, Middle Aged, prostate cancer, MESH : Risk Factors, MESH: Case-Control Studies, 3. Good health, European Prospective Investigation into Cancer and Nutrition, forkhead box, MESH : Forkhead Transcription Factors, Europe, FOXO3, MESH : Prostatic Neoplasms, Signal Transduction, Adult, medicine.medical_specialty, MESH : Case-Control Studies, Genotype, media_common.quotation_subject, MESH : Male, Population, MESH : Europe, MESH : Cohort Studies, Single-nucleotide polymorphism, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, Polymorphism, Single Nucleotide, White People, MESH : European Continental Ancestry Group, 03 medical and health sciences, MESH: Forkhead Transcription Factors, Internal medicine, medicine, Humans, MESH : Middle Aged, Genetic Predisposition to Disease, education, 030304 developmental biology, Aged, MESH : Signal Transduction, MESH: Humans, MESH : Humans, Case-control study, Cancer, Prostatic Neoplasms, MESH: Adult, medicine.disease, MESH: Male, Case-Control Studies, MESH: Prostatic Neoplasms, MESH : Genetic Predisposition to Disease, MESH: Europe
Abstract

International audience; Forkhead box O3 (FOXO3) has a wide range of functions: it promotes tumor suppression, cell cycle arrest, repair of damaged DNA, detoxification of reactive oxygen species, apoptosis and plays a pivotal role in promoting longevity. FOXO3 is a key downstream target of the PI3K-Akt pathway in response to cellular stimulation by growth factors or insulin and has been proposed as a bridge between ageing and tumor suppression. Three SNPs in the FOXO3 gene (rs3800231, rs9400239 and rs479744) that have been shown to be strongly and consistently associated with longevity, were examined in relation to PC risk in a case control study of 1571 incident PC cases and 1840 controls nested within the European Prospective Investigation into Cancer and Nutrition (EPIC). There was no statistically significant association between the SNPs and PC risk regardless of the model of inheritance (dominant, codominant and recessive). The associations were not modified by disease aggressiveness, circulating levels of steroid sex hormones, or IGFs or BMI. We conclude that polymorphisms in the FOXO3 gene that are associated with longevity are not major risk factors for PC risk, in this population of Caucasian men.

Published
2016

2. Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region

Author

Erwin Schurr, Marianna Orlova, Ayoub Sabri, Vaomalala Raharimanga, Ahmed Abid, Anne Boland, Yasser Gharbaoui, Safa El Azbaoui, Daniel K. Nolan, Luis B. Barreiro, Laurent Abel, Jamila El Baghdadi, Jean-Laurent Casanova, Majid Benkirane, Satoshi Okada, Ismail Abderrahmani Rhorfi, Voahangy Rasolofo, Jacinta Bustamante, Mélanie Migaud, Vincent Richard, Stéphanie Boisson-Dupuis, Audrey V. Grant, Kebir Alaoui-Tahiri, Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Genetics Unit, Military Hospital Mohamed V, Department of Pneumology, Blood Transfusion Center, Institut Pasteur de Madagascar, Réseau International des Instituts Pasteur (RIIP), McGill Centre for the Study of Host Resistance, McGill University = Université McGill [Montréal, Canada], Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Pediatrics, Faculty of Medicine, Sainte-Justine Hospital Research Centre, Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Infections à Vih, Réservoirs, Pharmacologie des Antirétroviraux et Prévention de la Transmission Mère Enfant, Université Paris Descartes - Paris 5 (UPD5), Pasteur Institute of Paris (Progamme Transversal de Recherche PTR202), Bill and Melinda Gates Foundation, St. Giles Foundation, Jeffrey Modell Foundation and Talecris Biotherapeutics, Rockefeller University Center for Clinical and Translational Science (5UL1RR024143-04) Rockefeller University, and National Institute of Allergy and Infectious Diseases (1R01AI089970-01 and U01AI088685). A.V.G. was partly supported by the Fondation pour la Recherche Médicale and Fondation BNP Paribas. L.B.B. is a scholar of the Fonds de la Recherche en Santé du Québec., Centre de recherche du CHU Sainte-Justine / Research Center of the Sainte-Justine University Hospital [Montreal, Canada], Université de Montréal (UdeM)-CHU Sainte Justine [Montréal]-Université de Montréal (UdeM)-CHU Sainte Justine [Montréal], Génétique Humaine des Maladies Infectieuses ( Inserm U980 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Institut Pasteur de Madagascar-Réseau International des Instituts Pasteur ( RIIP ), The Research Institute of the McGill-University Health Centre, Centre National de Génotypage ( CNG ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, rockefeller university, Université de Montréal-Sainte-Justine Hospital Research Centre, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Université Paris Descartes - Paris 5 ( UPD5 ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), McGill University, and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP]

Subjects
Male, Linkage disequilibrium, MESH: Mycobacterium tuberculosis, MESH : Tuberculosis, Pulmonary, Genetic Linkage, [SDV]Life Sciences [q-bio], MESH : Genotype, environment and public health, Linkage Disequilibrium, MESH: Genotype, MESH: Madagascar, MESH : Genetic Loci, MESH : Chromosomes, Human, Pair 8, Genetics(clinical), MESH : Female, Genetics (clinical), Genetics, 0303 health sciences, MESH : Linkage Disequilibrium, MESH : High Mobility Group Proteins, integumentary system, MESH: Polymorphism, Single Nucleotide, MESH : Polymorphism, Single Nucleotide, Age Factors, High Mobility Group Proteins, MESH: Genetic Predisposition to Disease, MESH: European Continental Ancestry Group, MESH : Adult, MESH: Case-Control Studies, 3. Good health, Morocco, MESH: Linkage Disequilibrium, Chromosomal region, Female, Chromosomes, Human, Pair 8, Adult, MESH : Case-Control Studies, Tuberculosis, Genotype, MESH : Madagascar, MESH : Male, MESH: Genetic Linkage, macromolecular substances, Biology, Polymorphism, Single Nucleotide, MESH: Genetic Loci, White People, Genetic determinism, Mycobacterium tuberculosis, MESH : European Continental Ancestry Group, 03 medical and health sciences, MESH : Mycobacterium tuberculosis, Report, Madagascar, Genetic predisposition, medicine, Humans, Genetic Predisposition to Disease, Allele, MESH : Morocco, Tuberculosis, Pulmonary, Genotyping, Alleles, 030304 developmental biology, MESH: Age Factors, MESH: Tuberculosis, Pulmonary, MESH: Humans, [ SDV ] Life Sciences [q-bio], 030306 microbiology, MESH: Alleles, MESH : Humans, MESH: Adult, biology.organism_classification, medicine.disease, MESH: High Mobility Group Proteins, MESH : Genetic Linkage, MESH: Male, Genetic Loci, Case-Control Studies, MESH: Morocco, MESH : Genetic Predisposition to Disease, MESH : Age Factors, MESH : Alleles, MESH: Chromosomes, Human, Pair 8, MESH: Female
Abstract

International audience; Only a small fraction of individuals infected with Mycobacterium tuberculosis develop clinical tuberculosis (TB) in their lifetime. Genetic epidemiological evidence suggests a genetic determinism of pulmonary TB (PTB), but the molecular basis of genetic predisposition to PTB remains largely unknown. We used a positional-cloning approach to carry out ultrafine linkage-disequilibrium mapping of a previously identified susceptibility locus in chromosomal region 8q12-13 by genotyping 3,216 SNPs in a family-based Moroccan sample including 286 offspring with PTB. We observed 44 PTB-associated SNPs (p < 0.01), which were genotyped in an independent set of 317 cases and 650 controls from Morocco. A single signal, consisting of two correlated SNPs close to TOX, rs1568952 and rs2726600 (combined p = 1.1 × 10(-5) and 9.2 × 10(-5), respectively), was replicated. Stronger evidence of association was found in individuals who developed PTB before the age of 25 years (combined p for rs1568952 = 4.4 × 10(-8); odds ratio of PTB for AA versus AG/GG = 3.09 [1.99-4.78]). The association with rs2726600 (p = 0.04) was subsequently replicated in PTB-affected subjects under 25 years in a study of 243 nuclear families from Madagascar. Stronger evidence of replication in Madagascar was obtained for additional SNPs in strong linkage disequilibrium with the two initial SNPs (p = 0.003 for rs2726597), further confirming the signal. We thus identified around rs1568952 and rs2726600 a cluster of SNPs strongly associated with early-onset PTB in Morocco and Madagascar. SNP rs2726600 is located in a transcription-factor binding site in the 3' region of TOX, and further functional explorations will focus on CD4 T lymphocytes.

Published
2013

3. Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia

Author

Pierre-Henri Jarreau, Emmanuelle Bouzigon, Johanna M. Huusko, Roberto Incitti, Ines Layouni, Jacques R. Bourbon, Richard Lenclen, Claude Danan, Florence Demenais, Mikko Hallman, Alice Hadchouel, Juliana Patkai, Christophe Delacourt, Xavier Durrmeyer, Marie-Laure Franco-Montoya, INSERM U955, équipe 4, Service de Pneumologie Allergologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-PremUp Foundation, Institut de Recherche pour le Développement (IRD)-Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-CHI Créteil-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche pour le Développement (IRD)-Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-CHI Créteil-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de réanimation néonatale de Créteil, CHI Créteil, Variabilité Génétique et Maladies Humaines, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Department of pediatrics, Oulu University Hospital-Institute of Clinical Medicine, PremUp Foundation, Institut de Recherche pour le Développement (IRD)-Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-CHI Créteil-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de réanimation néonatale Port-Royal, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Réanimation Néonatale, CHI Poissy-Saint-Germain, Unité Fonctionnelle de Recherche Clinique, Programme Hospitalier de Recherche Clinique AOR 07 018, Assistance Publique - Hôpitaux de Paris. Hadchouel was funded by INSERM., CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-PremUp Foundation, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Descartes - Paris 5 (UPD5)-CHI Créteil-Institut de Recherche pour le Développement (IRD)-Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Descartes - Paris 5 (UPD5)-CHI Créteil-Institut de Recherche pour le Développement (IRD)-Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Descartes - Paris 5 (UPD5)-CHI Créteil-Institut de Recherche pour le Développement (IRD)-Université Paris-Sud - Paris 11 (UP11)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP]-PremUp Foundation, Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Sorbonne Universités-Université Paris Descartes - Paris 5 ( UPD5 ) -CHI Créteil-Institut de Recherche pour le Développement ( IRD ) -Université Paris-Sud - Paris 11 ( UP11 ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Sorbonne Universités-Université Paris Descartes - Paris 5 ( UPD5 ) -CHI Créteil-Institut de Recherche pour le Développement ( IRD ) -Université Paris-Sud - Paris 11 ( UP11 ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Diderot - Paris 7 ( UPD7 ) -Institut Mondor de Recherche Biomédicale ( IMRB ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut Mondor de Recherche Biomédicale ( IMRB ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Sorbonne Universités-Université Paris Descartes - Paris 5 ( UPD5 ) -CHI Créteil-Institut de Recherche pour le Développement ( IRD ) -Université Paris-Sud - Paris 11 ( UP11 ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Diderot - Paris 7 ( UPD7 ), and CHU Cochin [AP-HP]

Subjects
Male, Pathology, Gene Expression, MESH : Genotype, Disease, Critical Care and Intensive Care Medicine, MESH: Animals, Newborn, MESH: Genotype, 0302 clinical medicine, Polymorphism (computer science), MESH : Female, MESH: Animals, MESH: Bronchopulmonary Dysplasia, Finland, Bronchopulmonary Dysplasia, 0303 health sciences, education.field_of_study, MESH : Rats, MESH : Animals, Newborn, MESH: Polymorphism, Single Nucleotide, MESH: Finland, MESH : Polymorphism, Single Nucleotide, Respiratory disease, MESH: Infant, Newborn, MESH: Genetic Predisposition to Disease, Gestational age, MESH: European Continental Ancestry Group, MESH : Proteoglycans, 3. Good health, MESH : Infant, Premature, medicine.anatomical_structure, MESH: Proteoglycans, Female, Proteoglycans, MESH : Genome-Wide Association Study, Infant, Premature, MESH : Finland, MESH : Bronchopulmonary Dysplasia, Pulmonary and Respiratory Medicine, MESH: Infant, Premature, medicine.medical_specialty, MESH: Gene Expression, Genotype, MESH: Rats, MESH : Lung, MESH : Male, Population, Black People, MESH : Infant, Newborn, Polymorphism, Single Nucleotide, White People, Article, MESH : African Continental Ancestry Group, premature, lung, MESH : European Continental Ancestry Group, 03 medical and health sciences, 030225 pediatrics, Intensive care, medicine, Animals, Humans, Genetic Predisposition to Disease, MESH: Lung, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, education, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, development, 030304 developmental biology, Lung, MESH: Humans, business.industry, MESH : Humans, Infant, Newborn, medicine.disease, infant, MESH: Male, Rats, MESH : Gene Expression, Animals, Newborn, Bronchopulmonary dysplasia, Immunology, MESH: Genome-Wide Association Study, MESH : Genetic Predisposition to Disease, MESH : Animals, MESH: African Continental Ancestry Group, DNA microarrays, business, MESH: Female, Genome-Wide Association Study
Abstract

International audience; RATIONALE: Bronchopulmonary dysplasia is the most common chronic respiratory disease in premature infants. Genetic factors might contribute to bronchopulmonary dysplasia susceptibility. OBJECTIVES: To identify genetic variants involved in bronchopulmonary dysplasia through a genome-wide association study. METHODS: We prospectively evaluated 418 premature neonates (gestational age

Published
2011

4. Ancient DNA reveals male diffusion through the Neolithic Mediterranean route

Author

Lacan, Marie, Keyser, Christine, Ricaut, François-Xavier, Brucato, Nicolas, Duranthon, Francis, Guilaine, Jean, Crubézy, Eric, Ludes, Bertrand, Crubezy, E., Laboratoire d'Anthropobiologie ( LA ), École des hautes études en sciences sociales ( EHESS ) -Université Toulouse - Jean Jaurès ( UT2J ) -Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique ( CNRS ), Laboratoire d'Anthropologie Moléculaire, Institut de Médecine Légale, Strasbourg, France ( IML ), Université Louis Pasteur - Strasbourg I, Anthropologie Moléculaire et Imagerie de Synthèse ( AMIS ), PRES Université de Toulouse-Centre National de la Recherche Scientifique ( CNRS ), Collège de France ( CDF ), Collège de France ( CdF ), Institute of Legal Medicine, Université Paris Descartes - Paris 5 ( UPD5 ), Laboratoire d'Anthropobiologie (LA), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anthropologie Moléculaire, Institut de Médecine Légale, Strasbourg, France (IML), Anthropologie Moléculaire et Imagerie de Synthèse (AMIS), Université Toulouse III - Paul Sabatier (UT3), Collège de France (CdF (institution)), Université Paris Descartes - Paris 5 (UPD5), Centre National de la Recherche Scientifique (CNRS), Human Genetics, Muséum d'Histoire Naturelle de Toulouse, Collège de France (CDF), Collège de France (CdF), and Institut de Médecine Légale - IML (Paris, France)

Subjects
Mediterranean climate, Time Factors, MESH: Geography, MESH: Emigration and Immigration, MESH : DNA, Population Dynamics, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Polymerase Chain Reaction, MESH: Fossils, MESH: Mediterranean Region, MESH : DNA, Mitochondrial, 0601 history and archaeology, MESH : Population Dynamics, MESH : Polymerase Chain Reaction, Genetics, 0303 health sciences, education.field_of_study, Multidisciplinary, Geography, Fossils, Mediterranean Region, Human migration, MESH: DNA, MESH : Geography, 06 humanities and the arts, MESH: European Continental Ancestry Group, Biological Sciences, Emigration and Immigration, Europe, [ SDV.GEN.GPO ] Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], France, MESH : Time Factors, Mitochondrial DNA, Population, MESH : Europe, MESH: Genetics, Population, Context (language use), Biology, DNA, Mitochondrial, White People, MESH : European Continental Ancestry Group, 03 medical and health sciences, MESH : Emigration and Immigration, Repartition, Humans, education, MESH : France, MESH : Mediterranean Region, 030304 developmental biology, 060101 anthropology, MESH: Humans, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], business.industry, MESH: Time Factors, MESH : Humans, MESH: DNA, Mitochondrial, MESH: Polymerase Chain Reaction, DNA, MESH: Population Dynamics, MESH : Genetics, Population, MESH: France, Lactase persistence, Genetics, Population, Ancient DNA, Evolutionary biology, [ SHS.ANTHRO-BIO ] Humanities and Social Sciences/Biological anthropology, MESH : Fossils, MESH: Europe, business
Abstract

International audience; The Neolithic is a key period in the history of the European settlement. Although archaeological and present-day genetic data suggest several hypotheses regarding the human migration patterns at this period, validation of these hypotheses with the use of ancient genetic data has been limited. In this context, we studied DNA extracted from 53 individuals buried in a necropolis used by a French local community 5,000 y ago. The relatively good DNA preservation of the samples allowed us to obtain autosomal, Y-chromosomal, and/or mtDNA data for 29 of the 53 samples studied. From these datasets, we established close parental relationships within the necropolis and determined maternal and paternal lineages as well as the absence of an allele associated with lactase persistence, probably carried by Neolithic cultures of central Europe. Our study provides an integrative view of the genetic past in southern France at the end of the Neolithic period. Furthermore, the Y-haplotype lineages characterized and the study of their current repartition in European populations confirm a greater influence of the Mediterranean than the Central European route in the peopling of southern Europe during the Neolithic transition.

Published
2011

5. On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

Author

Bing Jian Feng, Thomas Hansen, Fergus J. Couch, Dominique Stoppa-Lyonnet, Finn Cilius Nielsen, Sona Ciernikova, David E. Goldgar, Celia M. T. Greenwood, Jacek Gronwald, Nancy Hamel, Bohdan Górski, Olga M. Sinilnikova, Mads Thomassen, Laima Tihomirova, Steven A. Narod, Irene Konstantopoulou, Evgeny N. Imyanitov, Jan Lubinski, Drakoulis Yannoukakos, William D. Foulkes, Lenka Foretova, Vladimir Zajac, Masaryk Memorial Cancer Institute, Service de Génétique Oncologique, INSTITUT CURIE, Unité de génétique et biologie des cancers ( U830 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut Curie-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, Equipe 6, Centre de Recherche en Cancérologie de Lyon ( CRCL ), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ), Latvian Biomedical Research and Study Centre [Rīga], Department of Genetics and Pathology, Pomeranian Medical University-International Hereditary Cancer Centre, Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Department of Clinical Genetics, Rigshospitalet [Copenhagen]-University of Copenhagen ( KU ), Odense University Hospital, Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research 'Demokritos', National Center for Scientific Research 'Demokritos' ( NCSR ), McGill University, Masaryk Memorial Cancer Institute (RECAMO), Institut Curie, Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Cancérologie de Lyon (CRCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Department of Clinical Genetics [Copenhagen], Rigshospitalet [Copenhagen], National Center for Scientific Research 'Demokritos' (NCSR), Institut Curie [Paris], Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Copenhagen University Hospital-Copenhagen University Hospital, and McGill University = Université McGill [Montréal, Canada]

Subjects
MESH : Genes, BRCA1, Genes, BRCA1, MESH : Genotype, MESH: Founder Effect, MESH : Breast Neoplasms, MESH : Microsatellite Repeats, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, MESH: Genotype, 0302 clinical medicine, Gene Frequency, Ethnicity, MESH : Female, MESH : Gene Frequency, Genetics (clinical), Genetics, Ovarian Neoplasms, 0303 health sciences, education.field_of_study, MESH: Genetic Testing, MESH: Genetic Predisposition to Disease, MESH: European Continental Ancestry Group, Founder Effect, 3. Good health, Europe, MESH: Ovarian Neoplasms, MESH : Jews, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), MESH: Jews, Microsatellite, MESH: Ethnic Groups, Female, Gene pool, MESH : Mutation, Brazil, MESH : Ethnic Groups, MESH: Mutation, Genotype, Population, MESH : Europe, MESH : Founder Effect, [SDV.CAN]Life Sciences [q-bio]/Cancer, Breast Neoplasms, Biology, White People, Article, MESH : European Continental Ancestry Group, 03 medical and health sciences, Molecular evolution, MESH : Genetic Testing, MESH: Gene Frequency, MESH : Brazil, Humans, Genetic Predisposition to Disease, Genetic Testing, education, Allele frequency, MESH : Haplotypes, 030304 developmental biology, MESH: Humans, MESH : Ovarian Neoplasms, Haplotype, MESH : Humans, MESH: Haplotypes, Haplotypes, Jews, Mutation, MESH : Genetic Predisposition to Disease, MESH: Microsatellite Repeats, MESH: Europe, MESH: Brazil, MESH: Female, MESH: Genes, BRCA1, MESH: Breast Neoplasms, Founder effect, Microsatellite Repeats
Abstract

The BRCA1 mutation c.5266dupC was originally described as a founder mutation in the Ashkenazi Jewish (AJ) population. However, this mutation is also present at appreciable frequency in several European countries, which raises intriguing questions about the origins of the mutation. We genotyped 245 carrier families from 14 different population groups (Russian, Latvian, Ukrainian, Czech, Slovak, Polish, Danish, Dutch, French, German, Italian, Greek, Brazilian and AJ) for seven microsatellite markers and confirmed that all mutation carriers share a common haplotype from a single founder individual. Using a maximum likelihood method that allows for both recombination and mutational events of marker loci, we estimated that the mutation arose some 1800 years ago in either Scandinavia or what is now northern Russia and subsequently spread to the various populations we genotyped during the following centuries, including the AJ population. Age estimates and the molecular evolution profile of the most common linked haplotype in the carrier populations studied further suggest that c.5266dupC likely entered the AJ gene pool in Poland approximately 400-500 years ago. Our results illustrate that (1) BRCA1 c.5266dupC originated from a single common ancestor and was a common European mutation long before becoming an AJ founder mutation and (2) the mutation is likely present in many additional European countries where genetic screening of BRCA1 may not yet be common practice.European Journal of Human Genetics advance online publication, 1 December 2010; doi:10.1038/ejhg.2010.203.

Published
2010

6. Well-differentiated and dedifferentiated liposarcomas

Author

Jean-Michel Coindre, Alain Aurias, Florence Pedeutour, Plateforme de génétique moléculaire des cancers d'Aquitaine, Institut Bergonié [Bordeaux], UNICANCER-UNICANCER, Institut de signalisation, biologie du développement et cancer (ISBDC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Institut Bergonié - CRLCC Bordeaux, Institut de signalisation, biologie du développement et cancer ( ISBDC ), Université Nice Sophia Antipolis ( UNS ), Université Côte d'Azur ( UCA ) -Université Côte d'Azur ( UCA ) -Centre National de la Recherche Scientifique ( CNRS ), Unité de génétique et biologie des cancers ( U830 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut Curie-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), and Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Pathology, MESH: Hydrogen-Ion Concentration, MESH: Phosphotransferases, Atypical Lipomatous Tumor, 0302 clinical medicine, MESH: Hexokinase, MESH : Gene Frequency, MESH : Temperature, [SDV.BDD]Life Sciences [q-bio]/Development Biology, 0303 health sciences, Molecular pathology, Soft tissue sarcoma, MESH: Erythrocytes, Anatomical pathology, Proto-Oncogene Proteins c-mdm2, General Medicine, Liposarcoma, MESH: European Continental Ancestry Group, Prognosis, MESH: Temperature, MESH: Genes, 3. Good health, MESH : Phenotype, 030220 oncology & carcinogenesis, MESH : Genes, MESH : Phosphotransferases, medicine.medical_specialty, MESH : United States, MESH: Pedigree, Biology, MESH: Phenotype, MESH : African Continental Ancestry Group, Pathology and Forensic Medicine, MESH : European Continental Ancestry Group, 03 medical and health sciences, MESH : Hydrogen-Ion Concentration, medicine, MESH: United States, MESH: Gene Frequency, Humans, [ SDV.BDD ] Life Sciences [q-bio]/Development Biology, Molecular Biology, neoplasms, 030304 developmental biology, MESH: Humans, MESH: Alleles, MESH : Humans, Gene Amplification, Cancer, Cyclin-Dependent Kinase 4, Cell Biology, MESH : Hexokinase, medicine.disease, body regions, MESH : Pedigree, Karyotyping, Genomic Profile, Cancer research, Histopathology, MESH: African Continental Ancestry Group, MESH : Alleles, MESH : Erythrocytes
Abstract

International audience; Atypical lipomatous tumor or well-differentiated liposarcoma (ALT-WDLPS) and dedifferentiated liposarcoma (DDLPS) share the same basic genetic abnormality characterized by a simple genomic profile with a 12q14-15 amplification involving MDM2 gene. These tumors are the most frequent LPS. This paper reviews the molecular pathology, general clinical and imaging features, histopathology, new diagnostic tools, and prognosis of ALT-WDLPS and DDLPS.

Published
2010

7. The genetic diversity of three peculiar populations descending from the slave trade: Gm study of Noir Marron from French Guiana

Author

Patricia Tortevoye, Georges Larrouy, Antoine Gessain, Evelyne Guitard, Sabine Plancoulaine, Nicolas Brucato, Jean-Michel Dugoujon, Alicia Sanchez-Mazas, Laboratoire d'Anthropobiologie (LA), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Epidémiologie et Physiopathologie des Virus Oncogènes, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département d'anthropologie et d'écologie, Université de Genève (UNIGE), Laboratoire d'Anthropobiologie ( LA ), École des hautes études en sciences sociales ( EHESS ) -Université Toulouse - Jean Jaurès ( UT2J ) -Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique ( CNRS ), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique ( CNRS ), Génétique Humaine des Maladies Infectieuses ( Inserm U980 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Université de Genève ( UNIGE ), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Université de Genève = University of Geneva (UNIGE), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)

Subjects
Male, Latin Americans, Ethnic group, Population genetics, Ethnic origin, MESH: Founder Effect, Gene flow, MESH: Indians, South American, Consanguinity, Human genetics, [ SDV.MP ] Life Sciences [q-bio]/Microbiology and Parasitology, Ethnicity, MESH : Female, MESH: Genetic Variation, Marriage, ddc:599.9, 0303 health sciences, biology, 030305 genetics & heredity, General Medicine, MESH: European Continental Ancestry Group, Founder Effect, French Guiana, MESH : Africa, Western, Europe, Africa, Western, Geography, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Ethnology, Female, MESH: Ethnic Groups, Gene pool, General Agricultural and Biological Sciences, Atlantic slave trade, MESH : Cultural Characteristics, African population, MESH : Ethnic Groups, MESH : French Guiana, MESH : Male, MESH : Europe, MESH : Founder Effect, MESH: Cultural Characteristics, Black People, MESH : Immunoglobulin Gm Allotypes, Marron, General Biochemistry, Genetics and Molecular Biology, White People, MESH : African Continental Ancestry Group, MESH : European Continental Ancestry Group, 03 medical and health sciences, Immunoglobulin Gm Allotypes, MESH : Genetic Variation, MESH: Africa, Western, MESH : Consanguinity, MESH: French Guiana, Humans, MESH: Immunoglobulin Gm Allotypes, MESH : Haplotypes, MESH : Marriage, 030304 developmental biology, MESH: Consanguinity, Cultural Characteristics, MESH: Humans, General Immunology and Microbiology, Indians, South American, MESH : Humans, MESH : Indians, South American, Genetic Variation, MESH: Haplotypes, biology.organism_classification, Polymorhism, MESH: Marriage, MESH: Male, Haplotypes, MESH: African Continental Ancestry Group, MESH: Europe, MESH: Female
Abstract

International audience; The Noir Marron communities are the direct descendants of African slaves brought to the Guianas during the four centuries (16th to 19th) of the Atlantic slave trade. Among them, three major ethnic groups have been studied: the Aluku, the Ndjuka and the Saramaka. Their history led them to share close relationships with Europeans and Amerindians, as largely documented in their cultural records. The study of Gm polymorphisms of immunoglobulins may help to estimate the amount of gene flow linked to these cultural exchanges. Surprisingly, very low levels of European contribution (2.6%) and Amerindian contribution (1.7%) are detected in the Noir Marron gene pool. On the other hand, an African contribution of 95.7% redraws their origin to West Africa (F(ST) < or = 0.15). This highly preserved African gene pool of the Noir Marron is unique in comparison to other African American populations of Latin America, who are notably more admixed.

Published
2009

8. The influence of socio-economic and surveillance characteristics on breast cancer survival: a French population-based study

Author

Arlette Danzon, Patrick Arveux, Pascale Grosclaude, Michel Velten, Gilles Chaplain, Marc Colonna, Franck Bonnetain, Julie Gentil-Brevet, Registre des Cancers du Sein et autres Cancers Gynécologiques de Côte d'Or - Breast and Gynaecologic Cancer Registry of Côte d’Or, Centre d'épidémiologie des populations ( CEP ), Université de Bourgogne ( UB ) -Centre Régional de Lutte contre le cancer - Centre Georges-François Leclerc ( CRLCC - CGFL ) -Université de Bourgogne ( UB ) -Centre Régional de Lutte contre le cancer - Centre Georges-François Leclerc ( CRLCC - CGFL ), Registre des Cancers de l'Isère, CHU Grenoble, Registre des tumeurs du Doubs, Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Cancéropôle du Grand Est, Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC ( CEF2P / CARCINO ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Université Bourgogne Franche-Comté ( UBFC ) -Université de Franche-Comté ( UFC ), Registre des Cancers du Tarn, Registre des cancers du Tarn, Registre des cancers du Bas-Rhin, CRLCC Paul Strauss, Vesin, Aurélien, Centre d'épidémiologie des populations (CEP), Université de Bourgogne (UB)-Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER-Université de Bourgogne (UB)-Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Registre des tumeurs du Doubs et du Territoire de Belfort [CHRU Besançon], Pôle cancérologie (CHRU Besançon), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (UR 3181) (CEF2P / CARCINO), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Registre général des cancers du Tarn, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (EA 3181) (CEF2P / CARCINO)

Subjects
Oncology, Cancer Research, Epidemiology, MESH : Aged, MESH : Breast Neoplasms, Logistic regression, survival analysis, 0302 clinical medicine, MESH: Aged, 80 and over, MESH : Population Surveillance, MESH : Socioeconomic Factors, Medicine, MESH : Female, 030212 general & internal medicine, Aged, 80 and over, MESH: Aged, MESH: Middle Aged, medicine.diagnostic_test, Carcinoma, Ductal, Breast, [ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: European Continental Ancestry Group, MESH: Follow-Up Studies, Middle Aged, MESH : Adult, MESH : Survival Rate, 3. Good health, Survival Rate, 030220 oncology & carcinogenesis, Population Surveillance, Female, mass screening, Adult, medicine.medical_specialty, MESH: Socioeconomic Factors, MESH: Survival Rate, mammography, MESH: Mammography, Breast Neoplasms, White People, MESH: Population Surveillance, MESH : European Continental Ancestry Group, 03 medical and health sciences, Breast cancer, breast neoplasm, Internal medicine, Mammography, Humans, MESH : Mammography, MESH : Middle Aged, MESH: Mass Screening, MESH : Aged, 80 and over, Survival rate, Mass screening, Survival analysis, Aged, Gynecology, MESH : Mass Screening, MESH: Humans, business.industry, Proportional hazards model, MESH : Humans, MESH : Carcinoma, Ductal, Breast, Cancer, MESH: Adult, MESH : Follow-Up Studies, medicine.disease, MESH: Carcinoma, Ductal, Breast, Socioeconomic Factors, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, socio-economic factors, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, MESH: Female, MESH: Breast Neoplasms, Follow-Up Studies
Abstract

International audience; Survival data on female invasive breast cancer with 9-year follow-up from five French cancer registries were analysed by logistic regression for prognostic factors of cancer stage. The Kaplan-Meier method and log-rank test were used to estimate and compare the overall survival probability at 5 and 7 years, and at the endpoint. The Cox regression model was used for multivariate analysis. County of residence, age group, occupational status, mammographic surveillance, gynaecological prevention consultations and the diagnosis mammography, whether within a screening framework or not, were independent prognostic factors of survival. Moreover, for the same age group, and only for cancers T2 and/or N+ (whether 1, 2 or 3) and M0, the prognosis was significantly better when the diagnosis mammography was done within the framework of screening. Socio-economic and surveillance characteristics are independent prognostic factors of both breast cancer stage at diagnosis and of survival. Screening mammography is an independent prognostic factor of survival.

Published
2008

9. PAI-1 polymorphisms modulate phenotypes associated with the metabolic syndrome in obese and diabetic Caucasian population

Author

C. Lopes, C. Dina, Emmanuelle Durand, Philippe Froguel, Fundação Oswaldo Cruz (FIOCRUZ), Réseau International des Instituts Pasteur (RIIP), Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Institut de Chimie de la Matière Condensée de Bordeaux (ICMCB), Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), Développement artériel, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Mercator Océan, Société Civile CNRS Ifremer IRD Météo-France SHOM, Section of Genomic Medicine, Imperial College London, Genome Centre, Imperial College London-Hammersmith campus, Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut Polytechnique de Bordeaux-Université de Bordeaux (UB), Froguel, Philippe, Departamento de Entomologia do Instituto Oswaldo Cruz-Fundação Oswaldo Cruz (FIOCRUZ), Departamento de Entomologia do Instituto Oswaldo Cruz-Fundação Oswaldo Cruz, Université de Lille, Droit et Santé - Centre National de la Recherche Scientifique (CNRS), Physique, Aucune, Université de Bordeaux (UB) - Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM), and Imperial College London - Hammersmith campus

Subjects
Male, MESH : Polymorphism, Genetic, MESH : Insulin, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, MESH: Diabetic Angiopathies, MESH : Genotype, Coronary Disease, Type 2 diabetes, 030204 cardiovascular system & hematology, MESH: Plasminogen Activator Inhibitor 1, Body Mass Index, Cohort Studies, MESH: Genotype, chemistry.chemical_compound, 0302 clinical medicine, MESH: Metabolic Syndrome X, Insulin Secretion, Insulin, MESH: Obesity, MESH : Female, MESH: Cohort Studies, Metabolic Syndrome, 0303 health sciences, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH : Polymorphism, Single Nucleotide, MESH: European Continental Ancestry Group, Middle Aged, MESH: Case-Control Studies, MESH : Triglycerides, 3. Good health, Pedigree, MESH : Phenotype, MESH : Diabetes Mellitus, Phenotype, Plasminogen activator inhibitor-1, MESH : Obesity, Female, France, MESH : Plasminogen Activator Inhibitor 1, MESH: Triglycerides, MESH : Case-Control Studies, medicine.medical_specialty, MESH: Diabetes Mellitus, Genotype, MESH: Pedigree, MESH : Male, MESH : Metabolic Syndrome X, MESH : Cohort Studies, MESH: Insulin, Biology, Diabetic angiopathy, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Phenotype, Polymorphism, Single Nucleotide, White People, MESH: Body Mass Index, MESH : European Continental Ancestry Group, 03 medical and health sciences, Diabetes mellitus, Internal medicine, Plasminogen Activator Inhibitor 1, MESH: Polymorphism, Genetic, Internal Medicine, medicine, Diabetes Mellitus, Humans, MESH : Middle Aged, Obesity, MESH : France, Triglycerides, 030304 developmental biology, Polymorphism, Genetic, MESH: Humans, MESH : Diabetic Angiopathies, MESH : Humans, Case-control study, medicine.disease, MESH: Male, MESH: France, MESH : Body Mass Index, Endocrinology, chemistry, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH : Pedigree, Case-Control Studies, MESH : Coronary Disease, MESH: Coronary Disease, Metabolic syndrome, Plasminogen activator, MESH: Female, Diabetic Angiopathies
Abstract

AIM/HYPOTHESIS: Plasminogen activator inhibitor-1 (PAI-1) is a main regulator of the endogenous fibrinolytic system and modulates the thrombosis progression. We analyzed genetic contributions of PAI-1 mutations to the metabolic syndrome and to its complications. METHODS: PAI-1 promoter and coding sequences were screened for mutations. Genotypes were determined for 1067 unrelated individuals of a French Caucasian cohort, selected for diabetes and obesity. Association between PAI-1 polymorphisms and phenotypes related to metabolic syndrome were statistically studied. RESULTS: There were five variants identified: two common polymorphisms, -765 4G/5G and -844 A>G, in the promoter, and three new non-synonymous SNPs, Ala15Thr, Val17Ile and Asn195Ile. In obese non-diabetic subjects, the two promoter polymorphisms were associated with higher fasting glucose concentrations (p=0.006 and p=0.0004, for -765 4G/5G and -844 A>G, respectively) and insulin (p=0.05 and p=0.008, for -765 4G/5G and -844 A>G, respectively). Moreover, the -844 A>G SNP was associated with lower triglyceride (p=0.002) and higher HDL cholesterol concentrations (p=0.02) in lean subjects. In addition, the two promoter and Ala15Thr polymorphisms showed a trend towards association with CHD in diabetic subjects (-765 4G/5G: 0.56/0.51, p=0.05; -844 A>G: 0.63/0.57, p=0.02; Ala15Thr: 0.91/0.88, p=0.04). The SNPs Ala15Thr, located in the PAI-1 signal peptide, and rare the Asn195Ile, located in a beta-sheet structure, could influence conformation of these two structures. CONCLUSIONS/INTERPRETATION: Our results support the hypothesis that PAI-1 polymorphisms probably interact with known environmental risk factors (chronic hyperglycaemia, obesity, etc.) to induce a more severe insulin-resistant metabolic profile in overweight subjects, and to further increase risk for CHD in diabetic subjects.

Published
2003

10. Mutation screening of the urocortin gene: identification of new single nucleotide polymorphisms and association studies with obesity in French Caucasians

Author

Gérard Waeber, J. Weill, Philippe Froguel, Jérôme Delplanque, Francis Vasseur, Christian Dina, Emmanuelle Durand, Karine Clément, Amar Abderrahmani, B. Guy-Grand, Philippe Boutin, Génétique des maladies multifactorielles ( GMM ), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Physique, Université de Lille, Sciences Humaines et Sociales, Institut de Chimie de la Matière Condensée de Bordeaux ( ICMCB ), Université de Bordeaux ( UB ) -Centre National de la Recherche Scientifique ( CNRS ), Développement artériel, Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Mercator Océan, Société Civile CNRS Ifremer IRD Météo-France SHOM, Département de Médecine Interne, Université de Lausanne ( UNIL ), Département de Biologie Cellulaire et de Morphologie, Déterminants Biologiques et Comportementaux des Obésités, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôtel-Dieu-EA3502, Service de nutrition, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital de l'Hôtel-Dieu, Nutrition et obésité : approches génétique et transcriptomique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -IFR58-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Département de nutrition, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôtel-Dieu, Service d'endocrinologie pédiatrique [CHU Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Liquides Ioniques et Interfaces Chargées ( LI2C ), Centre National de la Recherche Scientifique ( CNRS ) -ESPCI ParisTech-Université Pierre et Marie Curie - Paris 6 ( UPMC ), Section of Genomic Medicine, Imperial College London, Genome Centre, Imperial College London-Hammersmith campus, Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut de Chimie de la Matière Condensée de Bordeaux (ICMCB), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut Polytechnique de Bordeaux-Université de Bordeaux (UB), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lausanne (UNIL), EA3502-Hôtel-Dieu-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital de l'Hôtel-Dieu, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR58-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Liquides Ioniques et Interfaces Chargées (LI2C), Université Pierre et Marie Curie - Paris 6 (UPMC)-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôtel-Dieu-EA3502, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital de l'Hôtel-Dieu, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôtel-Dieu, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Hôpital Jeanne de Flandre [Lille], Centre National de la Recherche Scientifique (CNRS)-ESPCI ParisTech-Université Pierre et Marie Curie - Paris 6 (UPMC), Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER), Université de Lausanne = University of Lausanne (UNIL), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu-EA3502, and Froguel, Philippe

Subjects
Male, Candidate gene, Corticotropin-Releasing Hormone, MESH : Polymorphism, Genetic, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, MESH : Aged, MESH: Base Sequence, Biochemistry, MESH : Chromosomes, Human, Pair 2, Endocrinology, MESH: Genetic Screening, Gene Frequency, MESH: Quantitative Trait, Heritable, MESH: Obesity, MESH : Female, MESH : Gene Frequency, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, Urocortins, Urocortin, Genetics, MESH: Aged, MESH: Middle Aged, MESH: European Continental Ancestry Group, Middle Aged, MESH : Adult, MESH: Corticotropin-Releasing Hormone, Chromosomes, Human, Pair 2, Female, MESH : Obesity, France, MESH : Corticotropin-Releasing Hormone, MESH : Mutation, Adult, medicine.medical_specialty, MESH: Mutation, MESH : Quantitative Trait, Heritable, MESH : Male, MESH: Chromosomes, Human, Pair 2, Locus (genetics), Single-nucleotide polymorphism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, White People, MESH : European Continental Ancestry Group, Quantitative Trait, Heritable, Internal medicine, Genetic variation, MESH: Polymorphism, Genetic, medicine, MESH: Gene Frequency, Humans, MESH : Middle Aged, Genetic Testing, Obesity, MESH : France, Gene, Aged, Genetic association, MESH : Genetic Screening, Polymorphism, Genetic, MESH: Humans, Base Sequence, Biochemistry (medical), MESH : Humans, MESH: Adult, medicine.disease, MESH: Male, MESH: France, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, MESH : Base Sequence, MESH: Female
Abstract

A linkage between obesity-related phenotypes and the 2p21–23 locus has been reported previously. The urocortin (UCN) gene resides at this interval, and its protein decreases appetite behavior, suggesting that UCN may be a candidate gene for susceptibility to obesity. We localized the UCN gene by radiation hybrid mapping, and the surrounding markers were genotyped in a collection of French families. Evidence for linkage was shown between the marker D2S165 and leptin levels (LOD score, 1.34; P 0.006) and between D2S2247 and the z-score of body mass index (LOD score, 1.829; P 0.0019). The gene was screened for SNPs in 96 obese patients. Four new variants were established. Two single nucleotide polymorphisms were located in the promoter (535 A3 G, 286 G3 A), one in intron 1 (31 C3 G), and one in the 3-untranslated region (34 C3 T). Association studies in cohorts of 722 unrelated obese and 381 control subjects and transmission disequilibrium tests, performed for the two frequent promoter polymorphisms, in 120 families (894 individuals) showed that no association was present between these variants and obesity, obesity-related phenotypes, and diabetes. Thus, our analyses of the genetic variations of the UCN gene suggest that, at least in French Caucasians, they do not represent a major cause of obesity. (J Clin Endocrinol Metab 87: 867– 869, 2002)

Published
2002

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