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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (vol 50, pg 765, 2017)

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NATURE GENETICS 2018年第5期50卷 765-766页

作者： Turcot, Valerie Lu, Yingchang Highland, Heather M. Schurmann, Claudia Justice, Anne E. Fine, Rebecca S. Bradfield, Jonathan P. Esko, Tonu Giri, Ayush Graff, Mariaelisa Guo, Xiuqing Hendricks, Audrey E. Karaderi, Tugce Lempradl, Adelheid Locke, Adam E. Mahajan, Anubha Marouli, Eirini Sivapalaratnam, Suthesh Young, Kristin L. Alfred, Tamuno Feitosa, Mary F. Masca, Nicholas G. D. Manning, Alisa K. Medina-Gomez, Carolina Mudgal, Poorva Ng, Maggie C. Y. Reiner, Alex P. Vedantam, Sailaja Willems, Sara M. Winkler, Thomas W. Abecasis, Goncalo Aben, Katja K. Alam, Dewan S. Alharthi, Sameer E. Allison, Matthew Amouyel, Philippe Asselbergs, Folkert W. Auer, Paul L. Balkau, Beverley Bang, Lia E. Barroso, Ines Bastarache, Lisa Benn, Marianne Bergmann, Sven Bielak, Lawrence F. Bluher, Matthias Boehnke, Michael Boeing, Heiner Boerwinkle, Eric Boger, Carsten A. Bork-Jensen, Jette Bots, Michiel L. Bottinger, Erwin P. Bowden, Donald W. Brandslund, Ivan Breen, Gerome Brilliant, Murray H. Broer, Linda Brumat, Marco Burt, Amber A. Butterworth, Adam S. Campbell, Peter T. Cappellani, Stefania Carey, David J. Catamo, Eulalia Caulfield, Mark J. Chambers, John C. Chasman, Daniel I. Chen, Yii-Der I. Chowdhury, Rajiv Christensen, Cramer Chu, Audrey Y. Cocca, Massimiliano Collins, Francis S. Cook, James P. Corley, Janie Galbany, Jordi Corominas Cox, Amanda J. Crosslin, David S. Cuellar-Partida, Gabriel D'Eustacchio, Angela Danesh, John Davies, Gail Bakker, Paul I. W. Groot, Mark C. H. Mutsert, Renee Deary, Ian J. Dedoussis, George Demerath, Ellen W. Heijer, Martin Hollander, Anneke I. Ruijter, Hester M. Dennis, Joe G. Denny, Josh C. Angelantonio, Emanuele Drenos, Fotios Du, Mengmeng Dube, Marie-Pierre Dunning, Alison M. Easton, Douglas F. Edwards, Todd L. Ellinghaus, David Ellinor, Patrick T. Elliott, Paul Evangelou, Evangelos Farmaki, Aliki-Eleni Farooqi, I. Sadaf Faul, Jessica D. Fauser, Sascha Feng, Shuang Ferrannini, Ele Ferrieres, Jean Florez, Jose C. Ford, Ian Fornage, Myriam Franco, Oscar H. Franke, Andre Franks, Paul W. Friedrich, Ne Montreal Heart Institute Université de Montréal Montreal Quebec Canada Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University School of Medicine Nashville TN USA Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA Genetics of Obesity and Related Metabolic Traits Program Icahn School of Medicine at Mount Sinai New York NY USA Department of Epidemiology University of North Carolina Chapel Hill NC USA Human Genetics Center University of Texas School of Public Health University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences University of Texas Health Science Center at Houston Houston TX USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Genetics Harvard Medical School Boston MA USA Division of Endocrinology and Center for Basic and Translational Obesity Research Boston Children’s Hospital Boston MA USA Center for Applied Genomics Division of Human Genetics Children’s Hospital of Philadelphia Philadelphia PA USA Quantinuum Research LLC San Diego CA USA Estonian Genome Center University of Tartu Tartu Estonia Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Nashville TN USA Institute for Translational Genomics and Population Sciences LABioMed at Harbor-UCLA Medical Center Torrance CA USA Wellcome Trust Sanger Institute Hinxton UK Department of Mathematical and Statistical Sciences University of Colorado Denver CO USA Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK Department of Biological Sciences Faculty of Arts and Sciences Eastern Mediterranean University Famagusta Cyprus Max Planck Institute of Immunobiology and Epigenetics Freiburg Germany Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (***35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

关键词： Genome-wide association studies Obesity

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Publisher Correction: Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set

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Nature communications 2019年第1期10卷 1098页

作者： N Del-Toro M Duesbury M Koch L Perfetto A Shrivastava D Ochoa O Wagih J Piñero M Kotlyar C Pastrello P Beltrao L I Furlong I Jurisica H Hermjakob S Orchard P Porras European Bioinformatics Institute (EMBL-EBI) European Molecular Biology Laboratory Wellcome Genome Campus Hinxton CB10 1SD UK. Novartis Institutes for BioMedical Research (NIBR) Maulbeerstrasse 66 4058 Basel Canton of Basel-Stadt Switzerland. Deep Genomics MaRS Centre 661 University Ave Suite 480 Toronto ON M5G 1M1 Canada. Research Programme on Biomedical Informatics (GRIB) Department of Experimental and Health Sciences (DCEXS) Hospital del Mar Medical Research Institute (IMIM) Universitat Pompeu Fabra (UPF) 08003 Barcelona Spain. Krembil Research Institute Data Science Discovery Centre for Chronic Diseases University Health Network 5KD-407 60 Leonard Avenue Toronto ON M5T 0S8 Canada. Departments of Medical Biophysics and Computer Science University of Toronto Toronto M4B 1B5 Canada. State Key Laboratory of Proteomics Beijing Proteome Research Center National Center for Protein Sciences Beijing Institute of Life Omics 102206 Beijing China. European Bioinformatics Institute (EMBL-EBI) European Molecular Biology Laboratory Wellcome Genome Campus Hinxton CB10 1SD UK. pporras@ebi.ac.uk.

In the original HTML version of this Article, the order of authors within the author list was incorrect. The IMEx Consortium contributing authors were incorrectly listed as the last author and should have been listed as the first author. This error has been corrected in the HTML version of the Article; the PDF version was correct at the time of publication.

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Life Expectancy in Long-Term Survivors Transplanted for Myelofibrosis: A Registry Study from the Chronic Malignancies Working Party of the European Society for Blood and Marrow Transplantation

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BLOOD 2017年第Sup1期130卷 3307-3307页

作者： Robin, Marie Eikema, Diderik-Jan de Wreede, Liesbeth C. Christine, Wolschke Schetelig, Johannes Van Lint, Maria Teresa Beelen, Dietrich W. Knelange, Nina Simone Brecht, Arne Niederwieser, Dietger W. Vitek, Antonin Kanz, Lothar Arnold, Renate Finke, Jurgen Volin, Liisa Yakoub-Agha, Ibrahim Nagler, Arnon Einsele, Hermann Poire, Xavier Chevallier, Patrice Holler, Ernst Ljungman, Per Robinson, Stephen Radujkovic, Aleksandar Chalandon, Yves Nicolaus, Kroger Hematology / Transplantation Hopital Saint-Louis Paris Cedex 10 FRA LUMC Dept. Medical Statistics & Bioinformatics Leiden Netherlands Medical Center Hamburg Hamburg Germany Medizinische Klinik und Poliklinik I TU Dresden Dresden Germany Department of Haematology Ospedale San Martino Genoa Italy Department of Bone Marrow Transplantation West German Cancer Center University of Duisburg-Essen Essen Germany EBMT Data Office Leiden Netherlands KMT- Abteilung DKD Helios Klinik Wiesbaden Wiesbaden DEU Abteilung Hamatologie/Onkologie Universitat Leipzig Leipzig Germany Institute of Hematology and Blood Transfusion Prague Czech Republic Dept. of Medicine II University of Tübingen Tübingen Germany Charité Universitätsmedizin Berlin Berlin Germany Department of Hematology and Oncology University Medical Center Freiburg Germany Helsinki University Hospital Comprehensive Cancer Center Helsinki Finland Hematology Lille France Acute Leukemia Working Party of EBMT Paris France Department of Internal Medicine II University Hospital Wuerzburg Wuerzburg Germany Section of Hematology Cliniques Universitaires Saint-Luc Brussels Belgium Hematology Hôpital Hôtel Dieu Nantes France Abteilung Hamatologie/Intern.Onkologie Klinikum der Universitat Regensburg Regensburg Germany Department of Hematology Karolinska University Hospital Stockholm Sweden Bristol Oncology Centre Bristol United Kingdom University Hospital Heidelberg Germany Division of Hematology Geneva University Hospitals Geneva Switzerland Department of Stem Cell Transplantation University Medical Center Hamburg Eppendorf Hamburg Germany

Background: myelofibrosis is a rare hematological malignancy which can be cured by hematopoietic stem cell transplant (HSCT) and many studies are showing that 3 to 5-year survival after HSCT is between 45 to 70% in relative standard condition (chronic phase disease, HLA matched donor). Relapse and transplant-related mortality are more frequent the first 2 years post HSCT. To optimize the long-term management of these patients, we raised the question of long-term outcome in patients surviving in remission at least 2 years after HSCT. Furthermore, that's a recurrent question from the patient to know if his life expectancy can reach the general population one many years after transplant. Method: from the EBMT registry, patients transplanted from 1995 to 2014 with a diagnosis of primary or secondary myelofibrosis even if the disease was transformed into acute myeloid leukemia (AML) at any point before the transplant were included. Only countries performing at least 20 transplants for this indication during the period were included. Among the 2461 patients from 15 countries fulfilling these criteria, 1245 and 650 were alive at 2 and 5 years, respectively. Overall survival was compared to an age, sex, year and country matched population. Excess mortality was defined as the difference between the observed mortality in the myelofibrosis patients and the mortality in a matched population and represents mortality specifically due to myelofibrosis and its treatment. Multivariable cox models for excess mortality were calculated for all patients, patients alive at the 2 and at the 5 year landmarks after transplant. Results: median age at time of transplant was 55 years (from 19 to 76 years); 1906 (77%) patients had primary myelofibrosis, 421 (17%) secondary myelofibrosis and 134 (6%) were transformed into acute myeloid leukemia (AML) at time of transplant. A reduced intensity conditioning regimen was used in 1503 (63%) patients and the majority of patients (87%) received periphe

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Publisher Correction: Tumor-necrosis factor impairs CD4+ T cell-mediated immunological control in chronic viral infection

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Nature immunology 2020年第9期21卷 1135页

作者： Marc Beyer Zeinab Abdullah Jens M Chemnitz Daniela Maisel Jil Sander Clara Lehmann Yasser Thabet Prashant V Shinde Lisa Schmidleithner Maren Köhne Jonel Trebicka Robert Schierwagen Andrea Hofmann Alexey Popov Karl S Lang Annette Oxenius Thorsten Buch Christian Kurts Mathias Heikenwalder Gerd Fätkenheuer Philipp A Lang Pia Hartmann Percy A Knolle Joachim L Schultze Life and Medical Sciences Bonn Genomics & Immunoregulation University of Bonn Bonn Germany. marc.beyer@uni-bonn.de. Platform for Single Cell Genomics and Epigenomics at the German Center for Neurodegenerative Diseases and the University of Bonn Bonn Germany. marc.beyer@uni-bonn.de. Institute of Experimental Immunology University Hospital Bonn Bonn Germany. Department of Internal Medicine I University Hospital Cologne Cologne Germany. Bioinformatics and Exploratory Data Analysis Pharma Research and Early Development Roche Diagnostics Penzberg Germany. Life and Medical Sciences Bonn Genomics & Immunoregulation University of Bonn Bonn Germany. German Center for Infection Research partner site Bonn-Cologne Cologne Germany. Department of Gastroenterology Hepatology and Infectious Diseases Heinrich-Heine-University Düsseldorf Düsseldorf Germany. Department of Internal Medicine I University Hospital Bonn Bonn Germany. Institute of Human Genetics Department of Genomics Life & Brain Center University of Bonn Bonn Germany. Institute of Immunology Faculty of Medicine University of Duisburg-Essen Essen Germany. Institute of Microbiology Swiss Federal Institute of Technology Zürich Zürich Switzerland. Institute of Laboratory Animal Science University of Zürich Schlieren Switzerland. Institute of Virology Technische Universität /Helmholtz Zentrum München München Germany. Division of Chronic Inflammation and Cancer German Cancer Research Center Heidelberg Germany. Department of Molecular Medicine II Heinrich-Heine-University Düsseldorf Düsseldorf Germany. Institute for Medical Microbiology Immunology and Hygiene University of Cologne Cologne Germany. Institute of Experimental Immunology University Hospital Bonn Bonn Germany. percy.knolle@tum.de. Institute of Molecular Immunology Klinikum rechts der Isar Technische Universität München München Germany. percy.knolle@tum.de. Life and Medical Sciences Bonn Genomics & Immunoregulation University of Bonn Bonn Germany

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors (vol 19, pg 302, 2018)

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NATURE IMMUNOLOGY 2018年第6期19卷 645-645页

作者： Patin, Etienne Hasan, Milena Bergstedt, Jacob Rouilly, Vincent Libri, Valentina Urrutia, Alejandra Alanio, Cecile Scepanovic, Petar Hammer, Christian Joensson, Friederike Beitz, Benoit Quach, Helene Lim, Yoong Wearn Hunkapiller, Julie Zepeda, Magge Green, Cherie Piasecka, Barbara Leloup, Claire Rogge, Lars Huetz, Francois Peguillet, Isabelle Lantz, Olivier Fontes, Magnus Di Santo, James P. Thomas, Stephanie Fellay, Jacques Duffy, Darragh Quintana-Murci, Lluis Albert, Matthew L. Unit of Human Evolutionary Genetics Department of Genomes & Genetics Institut Pasteur Paris France CNRS UMR 2000 Paris France Center of Bioinformatics Biostatistics and Integrative Biology Institut Pasteur Paris France Center for Translation Research Institut Pasteur Paris France Department of Automatic Control Lund University Lund Sweden International Group for Data Analysis Institut Pasteur Paris France Laboratory of Dendritic Cell Immunobiology Department of Immunology Institut Pasteur Paris France INSERM U1223 Paris France Department of Cancer Immunology Genentech South San Francisco CA USA School of Life Sciences École Polytechnique Fédérale de Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland Antibodies in Therapy and Pathology Department of Immunology Institut Pasteur Paris France INSERM U760 Paris France Department of Human Genetics Genentech South San Francisco CA USA Employee Donation Program Genentech South San Francisco CA USA Department of Development Sciences Genentech South San Francisco CA USA Immunoregulation Unit Department of Immunology Institut Pasteur Paris France INSERM U783 Faculté de Médecine Site Necker-Enfants Malades Université Paris Descartes Paris France Lymphocyte Population Biology CNRS URA 1961 Institut Pasteur Paris France Center of Clinical Investigations CIC-BT1428 IGR/Curie Paris France Department of Biopathology Institut Curie Paris France Equipe Labellisée de la Ligue de Lutte Contre le Cancer Institut Curie Paris France INSERM/Institut Curie U932 Paris France Centre for Mathematical Sciences Lund University Lund Sweden Innate Immunity Unit Institut Pasteur Paris France St. Giles Laboratory of Human Genetics of Infectious Diseases Rockefeller Branch Rockefeller University New York NY USA Laboratory of Human Genetics of Infectious Diseases Necker Branch INSERM U1163 Necker Hospital for Sick Children Paris France Paris Descartes University Imagine Insti

The quantification and characterization of circulating immune cells provide key indicators of human health and disease. To identify the relative effects of environmental and genetic factors on variation in the parameters of innate and adaptive immune cells in homeostatic conditions, we combined standardized flow cytometry of blood leukocytes and genome-wide DNA genotyping of 1,000 healthy, unrelated people of Western European ancestry. We found that smoking, together with age, sex and latent infection with cytomegalovirus, were the main non-genetic factors that affected variation in parameters of human immune cells. Genome-wide association studies of 166 immunophenotypes identified 15 loci that showed enrichment for disease-associated variants. Finally, we demonstrated that the parameters of innate cells were more strongly controlled by genetic variation than were those of adaptive cells, which were driven by mainly environmental exposure. Our data establish a resource that will generate new hypotheses in immunology and highlight the role of innate immunity in susceptibility to common autoimmune diseases.

关键词： Activated Lymphocyte Genetic factors Immunity Nonspecific Immune Cell Variation

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Optimized EBMT Transplant-Specific Risk Score of Patients with Myelodysplastic Syndromes Following Allogeneic Stem Cell Transplantation

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BLOOD 2017年第Sup1期130卷 3325-3325页

作者： Gagelmann, Nico Stelljes, Matthias Beelen, Dietrich W. Eikema, Dirk-Jan Knelange, Nina Simone Mufti, Ghulam Niederwieser, Dietger Sengeloev, Henrik Ehninger, Gerhard Nagler, Arnon Yakoub-Agha, Ibrahim Meijer, Ellen Ljungman, Per Maertens, Johan Kanz, Lothar Corral, Lucia Lopez Brecht, Arne Craddock, Charles Finke, Juergen Cornelissen, Jan J. Bernasconi, Paolo Chevallier, Patrice Sierra, Jorge Robin, Marie Kroeger, Nicolaus Department of Stem Cell Transplantation University Medical Center Hamburg-Eppendorf Hamburg Germany University of Muenster Muenster Germany University Hospital of Essen University of Essen Essen Germany Dept. Medical Statistics & Bioinformatics Leiden University Medical Center Leiden Netherlands EBMT Data Office Leiden Netherlands GKT School of Medicine London United Kingdom Department of Hematology University of Leipzig Leipzig Germany Department of Hematology Rigshospitalet Copenhagen Denmark Department of Internal Medicine I University Hospital Carl Gustav Carus Dresden Germany Hematology Division and Bone Marrow Transplantation Chaim Sheba Medical Center Tel-Hashomer Tel-Aviv Israel CHU de Lille LIRIC INSERM U995 Université de Lille2 Lille France CHU de Lille LIRIC INSERM U995 Lille France VU University Medical Center Amsterdam Netherlands Department of Medicine Huddinge Karolinska Institutet Stockholm Sweden Department of Hematology University Hospital Gasthuisberg Dept. of Hematology Leuven Belgium University Hospital Tuebingen Germany Hematology Deparment Hospital Clínico Universitario de Salamanca (CAUSA/IBSAL) SALAMANCA Spain KMT- Abteilung DKD Helios-Klinikum Wiesbaden Germany Centre for Clinical Haematology Queen Elizabeth Hospital Birmingham United Kingdom Department of Hematology and Oncology University Medical Center Freiburg Germany Erasmus MC Cancer Institute Erasmus University Medical Center Rotterdam Netherlands SC Ematologia Fondazione IRCCS Policlinico San Matteo Pavia Italy Clinical Hematology Nantes University Hospital Nantes France Hospital de la Santa Creu i Sant Pau Hematology Department University of Barcelona Barcelona Spain Hematology / Transplantation Hopital Saint-Louis Paris Cedex 10 France

Introduction Among available therapies, allogeneic stem cell transplantation (allo-SCT) is considered the only curative option in patients with myelodysplastic syndromes (MDS). Recently, two scores were developed to predict outcome of MDS patients following allo-SCT: the transplantation risk index (TRI) by GITMO and the prognostic score (PS) by CIBMTR. Our aim was to validate these scores using the European Society for Blood and Marrow Transplantation (EBMT) cohort and, where applicable, to optimize them using a transplant-specific approach. Methods In total, we included 1059 patients with MDS who underwent an allo-SCT from a HLA-identical sibling or matched/-mismatched unrelated donor (MUD) and were reported to the EBMT registry between 2000 and 2014. Patients were screened for eligibility according to factors used for each score. The TRI dataset consisted of 480 patients with full data on: age (< 50 or ≥ 50 years), IPSS-R (low, intermediate, high, very high), monosomal karyotype (MK; yes or no) and refractoriness to chemotherapy (yes or no). Karnofsky score (< 90 or 90 to 100%) was used as a proxy for an unavailable HCT comorbidity index. Patients were classified according to TRI scores: low (n = 39), intermediate (n = 219), high (n = 108) and very high (n = 114). A total of 667 patients met the following criteria of the PS: age (18 to 29, 30 to 49 or ≥ 50 years), Karnofsky score (90 to 100 or < 90%), cytogenetics (very good/good/intermediate, poor/very poor or MK), blood blasts (> 3 or ≤ 3%) and platelets before allo-SCT (> 50 or ≤ 50 x 109/L). The PS risk groups were: low (n = 24), intermediate (n = 330), high (n = 286) and very high (n = 27). We validated each score by investigating 3-year overall survival (OS) probabilites with the use of the Kaplan-Meier method. Cox regression and hazard ratios (HR) were used for optimization and scores were compared using the concordance index. Results Three-year OS (95% confidence interval) of a low TRI was 57.4% (41.5 to 7

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Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

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Nature genetics 2021年第12期53卷 1722页

作者： Douglas P Wightman Iris E Jansen Jeanne E Savage Alexey A Shadrin Shahram Bahrami Dominic Holland Arvid Rongve Sigrid Børte Bendik S Winsvold Ole Kristian Drange Amy E Martinsen Anne Heidi Skogholt Cristen Willer Geir Bråthen Ingunn Bosnes Jonas Bille Nielsen Lars G Fritsche Laurent F Thomas Linda M Pedersen Maiken E Gabrielsen Marianne Bakke Johnsen Tore Wergeland Meisingset Wei Zhou Petroula Proitsi Angela Hodges Richard Dobson Latha Velayudhan Karl Heilbron Adam Auton Julia M Sealock Lea K Davis Nancy L Pedersen Chandra A Reynolds Ida K Karlsson Sigurdur Magnusson Hreinn Stefansson Steinunn Thordardottir Palmi V Jonsson Jon Snaedal Anna Zettergren Ingmar Skoog Silke Kern Margda Waern Henrik Zetterberg Kaj Blennow Eystein Stordal Kristian Hveem John-Anker Zwart Lavinia Athanasiu Per Selnes Ingvild Saltvedt Sigrid B Sando Ingun Ulstein Srdjan Djurovic Tormod Fladby Dag Aarsland Geir Selbæk Stephan Ripke Kari Stefansson Ole A Andreassen Danielle Posthuma Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU Amsterdam Amsterdam the Netherlands. NORMENT Centre University of Oslo Oslo Norway. Institute of Clinical Medicine University of Oslo Oslo Norway. Division of Mental Health and Addiction Oslo University Hospital Oslo Norway. Department of Neurosciences University of California San Diego La Jolla CA USA. Department of Research and Innovation Helse Fonna Haugesund Hospital Haugesund Norway. The University of Bergen Institute of Clinical Medicine (K1) Bergen Norway. Research and Communication Unit for Musculoskeletal Health (FORMI) Department of Research Innovation and Education Division of Clinical Neuroscience Oslo University Hospital Oslo Norway. K. G. Jebsen Center for Genetic Epidemiology Department of Public Health and Nursing Faculty of Medicine and Health Sciences Norwegian University of Science and Technology Trondheim Norway. Department of Research Innovation and Education Division of Clinical Neuroscience Oslo University Hospital Oslo Norway. Department of Neurology Oslo University Hospital Oslo Norway. Department of Mental Health Faculty of Medicine and Health Sciences Norwegian University of Science and Technology Trondheim Norway. Division of Mental Health Care St. Olavs Hospital Trondheim University Hospital Trondheim Norway. Department of Clinical and Molecular Medicine Norwegian University of Science and Technology Trondheim Norway. Department of Internal Medicine Division of Cardiovascular Medicine University of Michigan Ann Arbor MI USA. Department of Neuromedicine and Movement Science Norwegian University of Science and Technology Trondheim Norway. Department of Neurology and Clinical Neurophysiology University Hospital of Trondheim Trondheim Norway. Department of Geriatrics St. Olav's Hospital Trondheim University Hospital Trondheim Norway. Department of Psychiatry Hospital Namsos Nord-Trøndelag Health Trust Namso

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Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

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Nature communications 2021年第1期12卷 2986页

作者： Juliette Coignard Michael Lush Jonathan Beesley Tracy A O'Mara Joe Dennis Jonathan P Tyrer Daniel R Barnes Lesley McGuffog Goska Leslie Manjeet K Bolla Muriel A Adank Simona Agata Thomas Ahearn Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Norbert Arnold Kristan J Aronson Banu K Arun Annelie Augustinsson Jacopo Azzollini Daniel Barrowdale Caroline Baynes Heko Becher Marina Bermisheva Leslie Bernstein Katarzyna Białkowska Carl Blomqvist Stig E Bojesen Bernardo Bonanni Ake Borg Hiltrud Brauch Hermann Brenner Barbara Burwinkel Saundra S Buys Trinidad Caldés Maria A Caligo Daniele Campa Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Wendy K Chung Kathleen B M Claes Christine L Clarke J Margriet Collée Don M Conroy Kamila Czene Mary B Daly Peter Devilee Orland Diez Yuan Chun Ding Susan M Domchek Thilo Dörk Isabel Dos-Santos-Silva Alison M Dunning Miriam Dwek Diana M Eccles A Heather Eliassen Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Henrik Flyger Florentia Fostira Eitan Friedman Lin Fritschi Debra Frost Manuela Gago-Dominguez Susan M Gapstur Judy Garber Vanesa Garcia-Barberan Montserrat García-Closas José A García-Sáenz Mia M Gaudet Simon A Gayther Andrea Gehrig Vassilios Georgoulias Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Patricia A Harrington Steven N Hart Wei He Frans B L Hogervorst Antoinette Hollestelle John L Hopper Darling J Horcasitas Peter J Hulick David J Hunter Evgeny N Imyanitov Agnes Jager Anna Jakubowska Paul A James Uffe Birk Jensen Esther M John Michael E Jones Rudolf Kaaks Pooja Middha Kapoor Beth Y Karlan Renske Keeman Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Veli-Matti Kosma Peter Kraft Allison W Kurian Yael Laitman Diether Lambrechts Loic Le Marchand Jenny Lester Fabienne Lesueur Tricia Lindstrom Adria Lopez-Fernández Jennifer T Loud Craig Luccarini Arto Mannermaa Siranou Genetic Epidemiology of Cancer team Inserm U900 Paris France. Institut Curie Paris Paris France. Mines ParisTech Fontainebleau Paris France. Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge UK. PSL University Paris Paris France. Paris Sud University Orsay France. Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute Brisbane QLD Australia. Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK. Family Cancer Clinic The Netherlands Cancer Institute Antoni van Leeuwenhoek hospital Amsterdam The Netherlands. Immunology and Molecular Oncology Unit Veneto Institute of Oncology IOV - IRCCS Padua Italy. Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD USA. Department of Clinical Genetics Helsinki University Hospital University of Helsinki Helsinki Finland. Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto ON Canada. Department of Molecular Genetics University of Toronto Toronto ON Canada. Department of Epidemiology Genetic Epidemiology Research Institute University of California Irvine Irvine CA USA. Division of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ) Heidelberg Germany. Department of Gynaecology and Obstetrics University Hospital of Schleswig-Holstein Campus Kiel Christian-Albrechts University Kiel Kiel Germany. Institute of Clinical Molecular Biology University Hospital of Schleswig-Holstein Campus Kiel Christian-Albrechts University Kiel Kiel Germany. Department of Public Health Sciences and Cancer Research Institute Queen's University Kingston ON Canada. Department of Breast Medical Oncology University of Texas MD Anderson Cancer Center Houston TX USA. Department of Cancer Epidemiology Clinical Sciences

A Correction to this paper has been published: https://***/10.1038/s41467-021-23162-4.

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Author Correction: High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer

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Nature communications 2022年第1期13卷 6928页

作者： Marta Palafox Laia Monserrat Meritxell Bellet Guillermo Villacampa Abel Gonzalez-Perez Mafalda Oliveira Fara Brasó-Maristany Nusaibah Ibrahimi Srinivasaraghavan Kannan Leonardo Mina Maria Teresa Herrera-Abreu Andreu Òdena Mònica Sánchez-Guixé Marta Capelán Analía Azaro Alejandra Bruna Olga Rodríguez Marta Guzmán Judit Grueso Cristina Viaplana Javier Hernández Faye Su Kui Lin Robert B Clarke Carlos Caldas Joaquín Arribas Stefan Michiels Alicia García-Sanz Nicholas C Turner Aleix Prat Paolo Nuciforo Rodrigo Dienstmann Chandra S Verma Nuria Lopez-Bigas Maurizio Scaltriti Monica Arnedos Cristina Saura Violeta Serra Experimental Therapeutics Group Vall d'Hebron Institute of Oncology Barcelona Spain. Breast Cancer and Melanoma Group Vall d'Hebron Institute of Oncology Barcelona Spain. Department of Medical Oncology Hospital Vall d'Hebron Barcelona Spain. Oncology Data Science Group Vall d'Hebron Institute of Oncology Barcelona Spain. Institute for Research in Biomedicine (IRB Barcelona) Barcelona Spain. Research Program on Biomedical Informatics Universitat Pompeu Fabra Barcelona Spain. Translational Genomics and Targeted Therapies in Solid Tumors August Pi i Sunyer Biomedical Research Institute (IDIBAPS) Barcelona Spain. Service de Biostatistique et d'Epidémiologie Gustave Roussy Villejuif France. Oncostat U1018 Inserm University Paris-Saclay Villejuif France. Bioinformatics Institute (A*STAR) Singapore Singapore. Medica Scientia Innovation Research (MedSIR) Barcelona Spain. The Breast Cancer Now Research Centre London UK. Preclinical Modelling of Pediatric Cancer Evolution Group The Institute of Cancer Research London UK. Translational Molecular Pathology Vall d'Hebron Institute of Research (VHIR) Barcelona Spain. Novartis Pharmaceuticals East Hanover NJ USA. Genentech Inc. South San Francisco California USA. Breast Biology Group Manchester Breast Centre Manchester UK. Cancer Research UK Cambridge UK. CIBERONC Vall d'Hebron Institute of Oncology Barcelona Spain. Growth Factors Laboratory Vall d'Hebron Institute of Oncology Barcelona Spain. Department of Biochemistry and Molecular Biology Universitat Autònoma de Barcelona Barcelona Spain. IMIM (Hospital del Mar Medical Research Institute) Barcelona Spain. Institució Catalana de Recerca i Estudis Avançats (ICREA) Barcelona Spain. University of Barcelona Barcelona Spain. Department of Medical Oncology Hospital Clinic Barcelona Spain. SOLTI Breast Cancer Research Group Barcelona Spain. Department of Oncology IOB Institute of Oncology Barcelona Spain. Molecular Oncology Group Vall d'Hebron Institute of On

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Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

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Nature genetics 2019年第7期51卷 1191-1192页

作者： Valérie Turcot Yingchang Lu Heather M Highland Claudia Schurmann Anne E Justice Rebecca S Fine Jonathan P Bradfield Tõnu Esko Ayush Giri Mariaelisa Graff Xiuqing Guo Audrey E Hendricks Tugce Karaderi Adelheid Lempradl Adam E Locke Anubha Mahajan Eirini Marouli Suthesh Sivapalaratnam Kristin L Young Tamuno Alfred Mary F Feitosa Nicholas G D Masca Alisa K Manning Carolina Medina-Gomez Poorva Mudgal Maggie C Y Ng Alex P Reiner Sailaja Vedantam Sara M Willems Thomas W Winkler Gonçalo Abecasis Katja K Aben Dewan S Alam Sameer E Alharthi Matthew Allison Philippe Amouyel Folkert W Asselbergs Paul L Auer Beverley Balkau Lia E Bang Inês Barroso Lisa Bastarache Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Marco Brumat Amber A Burt Adam S Butterworth Peter T Campbell Stefania Cappellani David J Carey Eulalia Catamo Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der I Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox David S Crosslin Gabriel Cuellar-Partida Angela D'Eustacchio John Danesh Gail Davies Paul I W Bakker Mark C H Groot Renée Mutsert Ian J Deary George Dedoussis Ellen W Demerath Martin Heijer Anneke I Hollander Hester M Ruijter Joe G Dennis Josh C Denny Emanuele Di Angelantonio Fotios Drenos Mengmeng Du Marie-Pierre Dubé Alison M Dunning Douglas F Easton Todd L Edwards David Ellinghaus Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki I Sadaf Farooqi Jessica D Faul Sascha Fauser Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Oscar H Franco Andre Franke Paul W Franks Nele Friedrich Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Jane Gibson Vilmantas Giedraitis Anette P Gjesing Penny Gordon-Larsen Mathias Gorski Hans-Jörgen Montreal Heart Institute Université de Montréal Montreal Quebec Canada. Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University School of Medicine Nashville TN USA. Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA. Genetics of Obesity and Related Metabolic Traits Program Icahn School of Medicine at Mount Sinai New York NY USA. Department of Epidemiology University of North Carolina Chapel Hill NC USA. Human Genetics Center University of Texas School of Public Health University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences University of Texas Health Science Center at Houston Houston TX USA. Broad Institute of MIT and Harvard Cambridge MA USA. Department of Genetics Harvard Medical School Boston MA USA. Division of Endocrinology and Center for Basic and Translational Obesity Research Boston Children's Hospital Boston MA USA. Center for Applied Genomics Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA USA. Quantinuum Research LLC San Diego CA USA. Estonian Genome Center University of Tartu Tartu Estonia. Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Nashville TN USA. Institute for Translational Genomics and Population Sciences LABioMed at Harbor-UCLA Medical Center Torrance CA USA. Wellcome Trust Sanger Institute Hinxton UK. Department of Mathematical and Statistical Sciences University of Colorado Denver CO USA. Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK. Department of Biological Sciences Faculty of Arts and Sciences Eastern Mediterranean University Famagusta Cyprus. Max Planck Institute of Immunobiology and Epigenetics Freiburg Germany. Department of Biostatistics and Center for Statistical Genetics University of M

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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