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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

Nature 2024年第8003期627卷 347-357页

作者： Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin Kim M Lorenz Ravi Mandla Alicia Huerta-Chagoya Giorgio E M Melloni Stavroula Kanoni Nigel W Rayner Ozvan Bocher Ana Luiza Arruda Kyuto Sonehara Shinichi Namba Simon S K Lee Michael H Preuss Lauren E Petty Philip Schroeder Brett Vanderwerff Mart Kals Fiona Bragg Kuang Lin Xiuqing Guo Weihua Zhang Jie Yao Young Jin Kim Mariaelisa Graff Fumihiko Takeuchi Jana Nano Amel Lamri Masahiro Nakatochi Sanghoon Moon Robert A Scott James P Cook Jung-Jin Lee Ian Pan Daniel Taliun Esteban J Parra Jin-Fang Chai Lawrence F Bielak Yasuharu Tabara Yang Hai Gudmar Thorleifsson Niels Grarup Tamar Sofer Matthias Wuttke Chloé Sarnowski Christian Gieger Darryl Nousome Stella Trompet Soo-Heon Kwak Jirong Long Meng Sun Lin Tong Wei-Min Chen Suraj S Nongmaithem Raymond Noordam Victor J Y Lim Claudia H T Tam Yoonjung Yoonie Joo Chien-Hsiun Chen Laura M Raffield Bram Peter Prins Aude Nicolas Lisa R Yanek Guanjie Chen Jennifer A Brody Edmond Kabagambe Ping An Anny H Xiang Hyeok Sun Choi Brian E Cade Jingyi Tan K Alaine Broadaway Alice Williamson Zoha Kamali Jinrui Cui Manonanthini Thangam Linda S Adair Adebowale Adeyemo Carlos A Aguilar-Salinas Tarunveer S Ahluwalia Sonia S Anand Alain Bertoni Jette Bork-Jensen Ivan Brandslund Thomas A Buchanan Charles F Burant Adam S Butterworth Mickaël Canouil Juliana C N Chan Li-Ching Chang Miao-Li Chee Ji Chen Shyh-Huei Chen Yuan-Tsong Chen Zhengming Chen Lee-Ming Chuang Mary Cushman John Danesh Swapan K Das H Janaka de Silva George Dedoussis Latchezar Dimitrov Ayo P Doumatey Shufa Du Qing Duan Kai-Uwe Eckardt Leslie S Emery Daniel S Evans Michele K Evans Krista Fischer James S Floyd Ian Ford Oscar H Franco Timothy M Frayling Barry I Freedman Pauline Genter Hertzel C Gerstein Vilmantas Giedraitis Clicerio González-Villalpando Maria Elena González-Villalpando Penny Gordon-Larsen Myron Gross Lindsay A Guare Sophie Hackinger Liisa Hakaste Sohee Han Andrew T Hattersley Christian Herder Momoko Horikoshi Annie-Green Howard Willa Centre for Genetics and Genomics Versus Arthritis Centre for Musculoskeletal Research Division of Musculoskeletal and Dermatological Sciences University of Manchester Manchester UK. Department of Diabetes and Metabolic Diseases Graduate School of Medicine University of Tokyo Tokyo Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. konstantinos.hatzikotoulas@helmholtz-munich.de. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. Center for Precision Health Research National Human Genome Research Institute National Institutes of Health Bethesda MD USA. British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK. Heart and Lung Research Institute University of Cambridge Cambridge UK. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor MI USA. Corporal Michael J. Crescenz VA Medical Center Philadelphia PA USA. Department of Systems Pharmacology and Translational Therapeutics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Department of Genetics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Programs in Metabolism and Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Diabetes Unit and Center for Genomic Medicine Massachusetts General Hospital Boston MA USA. TIMI Study Group Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London L

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes and molecular mechanisms that are often specific to cell type. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P < 5 × 10) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.

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Mechanistic Insights into CLNS1A-Mediated Chemoresistance and Tumor Progression in Non-small Cell Lung Cancer

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Cancer letters 2025年 626卷 217783页

作者： Tong-You Wade Wei Jiun-Yi Hsia Tsung-Ying Yang Yu-Xu Huang Guo-Zhi Wang Yi-Chung Liu Yi-Wun Wang Fangzhou He Jo-Mei Maureen Chen Guo-Jun Zhao Ping-Chiang Lyu Li-Jen Su Shao-Chih Chiu Chang-Tze Ricky Yu Department of Applied Chemistry National Chi Nan University Nantou Taiwan Division of Cardiology Department of Medicine University of California San Diego La Jolla California USA. Electronic address: t1wei@health.ucsd.edu. Division of Thoracic Surgery Chung Shan Medical University Hospital Taichung Taiwan School of Medicine Chung Shan Medical University Taichung Taiwan. Department of Chest Medicine Taichung Veterans General Hospital Taichung Taiwan Doctoral Program in Translational Medicine National Chung Hsing University Taichung Taiwan. Department of Medicine JingGangShan University Ji'an China. Division of Thoracic Surgery Chung Shan Medical University Hospital Taichung Taiwan. Department of Life Sciences National Tsing Hua University Hsinchu Taiwan. Cardiovascular Research Center School of Basic Medical Sciences Xi'an Jiaotong University Health Science Center Xi'an China. Department of Applied Chemistry National Chi Nan University Nantou Taiwan. Department of Cardiology The First Affiliated Hospital of Zhengzhou University Zhengzhou China. Institute of Bioinformatics and Structural Biology Department of Life Science National Tsing Hua University Hsinchu Taiwan. Department of Biomedical Sciences and Engineering Education and Research Center for Technology Assisted Substance Abuse Prevention and Management and Core Facilities for High Throughput Experimental Analysis National Central University Taoyuan Taiwan. Graduate Institute of Biomedical Sciences China Medical University Taichung Taiwan Translational Cell Therapy Center Department of Medical Research China Medical University Hospital Taichung Taiwan. Electronic address: scchiu@mail.cmu.edu.tw. Department of Applied Chemistry National Chi Nan University Nantou Taiwan. Electronic address: ctyu@ncnu.edu.tw.

CLNS1A is a chloride channel protein and an essential component of the methylosome complex, which additionally comprises PRMT5 and MEP50. In this study, we investigated its contribution to lung cancer and its potential as a therapeutic target. Analysis of transcriptomic datasets and western blotting revealed that CLNS1A, PRMT5, and MEP50 were overexpressed in lung cancer tissues, with elevated CLNS1A expression correlating with poor patient survival. CLNS1A overexpression enhanced platinum clearance from cells, increased the IC values for chemotherapy, and improved cell survival. Conversely, the knockdown of CLNS1A increased drug accumulation, reduced survival, and increased sensitivity to chemotherapy. The 3W mutant, a chloride channel-defective variant with steric hindrance at key bottleneck residues, impaired chloride ion transport, thereby reducing drug resistance, migration, and anchorage-independent growth. Mechanistically, CLNS1A promotes drug efflux through its chloride channel activity and activates the FAK-SRC-RAC1 pathway to enhance motility and clonogenicity. It also facilitates PRMT5-mediated RUVBL1 methylation to support anti-apoptotic DNA damage response signaling. In vivo, CLNS1A overexpression accelerated tumor growth and reduced survival, whereas CLNS1A knockdown sensitized tumors to cisplatin, enhancing therapeutic efficacy. These findings suggest that CLNS1A is a potential biomarker and therapeutic target, and its inhibition offers a strategy to overcome drug resistance and limit the metastatic progression of lung cancer.

关键词： Chemoresistance Chloride channel DNA damage response Lung cancer Metastasis

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HMGA2 and protein leucine methylation drive pancreatic cancer lineage plasticity

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Nature communications 2025年第1期16卷 4866页

作者： Stephanie Dobersch Naomi Yamamoto Aidan Schutter Sarah M Cavender Tess M Robertson Nithya Kartha Annie N Samraj Ben Doron Lisa A Poole Cynthia L Wladyka Amy Zhang Gun Ho Jang Aswanth H Mahalingam Guillermo Barreto Srivatsan Raghavan Goutham Narla Faiyaz Notta Robert N Eisenman Andrew C Hsieh Sita Kugel Human Biology Division Fred Hutchinson Cancer Center Seattle WA USA. Medical Scientist Training Program University of Washington Seattle WA USA. Molecular & Cellular Biology Graduate Program University of Washington Seattle WA USA. Division of Transfusion Medicine Department of Laboratory Medicine University of Washington School of Medicine Seattle WA USA. PanCuRx Translational Research Initiative Ontario Institute for Cancer Research Toronto Ontario Canada. Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA. Université de Lorraine CNRS Laboratoire IMoPA Nancy France. Lung Cancer Epigenetic Max-Planck-Institute for Heart and Lung Research Bad Nauheim Germany. Broad Institute of MIT and Harvard Cambridge MA USA. Harvard Medical School Boston MA USA. Department of Medicine Brigham and Women's Hospital Boston MA USA. Division of Genetic Medicine Department of Internal Medicine University of Michigan Ann Arbor MI USA. Rogel Cancer Center University of Michigan Ann Arbor MI USA. Princess Margaret Cancer Centre University Health Network Toronto ON Canada. Department of Medical Biophysics University of Toronto Toronto ON Canada. Basic Sciences Division Fred Hutchinson Cancer Center Seattle WA USA. Department of Medicine University of Washington Seattle WA USA. Department of Genome Sciences University of Washington Seattle WA USA. Human Biology Division Fred Hutchinson Cancer Center Seattle WA USA. skugel@***. Department of Genome Sciences University of Washington Seattle WA USA. skugel@***.

Basal pancreatic ductal adenocarcinoma (PDAC) has the worst overall survival and is the only subtype that serves as an independent poor prognostic factor. We identify elevated levels of LIN28B and its downstream target, HMGA2, in basal PDAC. Notably, LIN28B significantly accelerates KRAS-driven PDAC progression in a mouse model. Here, we show that HMGA2 promotes basal PDAC pathogenesis by enhancing mRNA translation downstream of LIN28B. Mechanistically, HMGA2 suppresses leucine carboxyl methyltransferase 1 (LCMT1) at the chromatin level, reducing PP2A methylation and activity. This leads to increased phosphorylation of S6K and eIF4B, boosting mRNA translation. Additionally, HMGA2 downregulates B56α (PPP2R5A), disrupting functional PP2A holoenzyme assembly and further sustaining phosphorylated S6K levels. Impaired PP2A function mimics HMGA2's effects, reinforcing increased mRNA translation and basal lineage features. This work uncovers a critical link between the LIN28B/HMGA2 axis, protein synthesis, and PDAC lineage specificity via LCMT1-mediated PP2A methylation and B56α-PP2A disruption.

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Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland

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Annals of the rheumatic diseases 2025年

作者： Mandi M Wiley Marcin Radziszewski Bhuwan Khatri Michelle L Joachims Kandice L Tessneer Anna M Stolarczyk Songyuan Yao James Li Cherilyn Pritchett-Frazee Audrey A Johnston Astrid Rasmussen Juan-Manuel Anaya Lara A Aqrawi Sang-Cheol Bae Eva Baecklund Albin Björk Johan G Brun Sara Magnusson Bucher Nick Dand Maija-Leena Eloranta Fiona Engelke Helena Forsblad-d'Elia Cecilia Fugmann Stuart B Glenn Chen Gong Jacques-Eric Gottenberg Daniel Hammenfors Juliana Imgenberg-Kreuz Janicke Liaaen Jensen Svein Joar Auglænd Johnsen Malin V Jonsson Jennifer A Kelly Sharmily Khanam Kwangwoo Kim Marika Kvarnström Thomas Mandl Javier Martín David L Morris Gaetane Nocturne Katrine Brække Norheim Peter Olsson Øyvind Palm Jacques-Olivier Pers Nelson L Rhodus Christopher Sjöwall Kathrine Skarstein Kimberly E Taylor Phil Tombleson Gudny Ella Thorlacius Swamy R Venuturupalli Edward M Vital Daniel J Wallace Lida Radfar Michael T Brennan Judith A James R Hal Scofield Patrick M Gaffney Lindsey A Criswell Roland Jonsson Silke Appel Per Eriksson Simon J Bowman Roald Omdal Lars Rönnblom Blake M Warner Maureen Rischmueller Torsten Witte A Darise Farris Xavier Mariette Caroline H Shiboski Marie Wahren-Herlenius Marta E Alarcón-Riquelme Wan-Fai Ng Kathy L Sivils Joel M Guthridge Indra Adrianto Timothy J Vyse Betty P Tsao Gunnel Nordmark Christopher J Lessard Genes and Human Disease Research Program Oklahoma Medical Research Foundation (OMRF) Oklahoma City OK USA. Genes and Human Disease Research Program Oklahoma Medical Research Foundation (OMRF) Oklahoma City OK USA University of Oklahoma Health Sciences Center Oklahoma City Oklahoma USA. Arthritis and Clinical Immunology Research Program OMRF Oklahoma City OK USA. Universidad de la Costa Barranquilla Colombia. Kristiania University College Oslo Norway University of Oslo Oslo Norway. Department of Rheumatology Hanyang University Hospital for Rheumatic Diseases Hanyang University Institute for Rheumatology Research and Hanyang Institute of Bioscience and Biotechnology Seoul Republic of Korea. Department of Medical Sciences Uppsala University Uppsala Sweden. Karolinska Institutet Stockholm Sweden. Haukeland University Hospital Bergen Norway Broegelmann Research Laboratory Department of Clinical Sciences University of Bergen Bergen Norway. Örebro University Örebro Sweden. Department of Medical and Molecular Genetics School of Basic and Medical Biosciences King's College London London UK. Hannover Medical School Hannover Germany. University of Gothenburg Gothenburg Sweden Umeå Universitet Umeå Sweden. Hôspitaux Universitaires de Strasbourg Strasbourg France Université de Strasbourg Strasbourg France Regenerative NanoMedicine Institut National de la Santé et de la Recherche Médicale (INSERM) Strasbourg France. Stavanger University Hospital Stavanger Norway. Kyung Hee University Seoul Republic of Korea. Karolinska Institutet Stockholm Sweden Academic Specialist Center Center for Rheumatology Stockholm Health Services Stockholm Sweden. Skane University Hospital Malmö Lund University Malmö Sweden. Instituto de Parasitología y Biomedicina López-Neyra CSIC Granada Spain. Université Paris-Saclay Le Kremlin Bicêtre Paris France Assistance Publique - Hôpitaux de Paris Hôpital Bicêtre Le Kremlin Bicêtre Paris France. Broegelmann Research Laboratory Dep

OBJECTIVES:Sjögren's disease (SjD) and systemic lupus erythematosus (SLE) share genetic risk at the DDX6-CXCR5 locus (11q23.3). Identifying and functionally characterising shared SNPs spanning this locus can provide new insights into common genetic mechanisms of autoimmunity. METHODS:Transdisease meta-analyses, fine-mapping, and bioinformatic analyses prioritised shared likely functional single nucleotide polymorphisms (SNPs) for allele-specific and cell type-specific functional interrogation using electromobility shift, luciferase reporter, and quantitative chromatin conformation capture assays and clustered regularly interspaced short palindromic repeat (CRISPR) gene regulation. RESULTS:Five shared SNPs were identified as likely functional in primary human immune cells, salivary gland and kidney tissues: rs57494551, rs4936443, rs4938572, rs7117261, and rs4938573. All 5 SNPs exhibited cell type-specific and allele-specific effects on nuclear protein binding affinity and enhancer/promoter regulatory activity in immune, salivary gland epithelial, and kidney epithelial cell models. Mapping of chromatin-chromatin interactions revealed a chromatin regulatory network that expanded beyond DDX6 and CXCR5 to include PHLDB1, lnc-PHLDB1-1, BCL9L, TRAPPC4, among others. Coalescence of functional assays and multiomic data analyses indicated that these SNPs likely modulate the activity of 3 regulatory regions: intronic rs57494551 regulatory region, intergenic SNP haplotype (rs4938572, rs4936443, and rs7117261) regulatory region, and rs4938573 regulatory region upstream of the CXCR5 promoter. CONCLUSIONS:Shared genetic susceptibly at the DDX6-CXCR5 locus in SjD and SLE likely alters common mechanisms of autoimmunity, including interferon signalling (DDX6), autophagy (TRAPPC4), and lymphocytic infiltration of disease-target tissues (CXCR5). Further, using multiomic data from patients with SjD, combined with bioinformatic and in vitro functional studies, can provide mechanistic ins

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Correction: New insights into epigenetic regulation of resistance to PD-1/PD-L1 blockade cancer immunotherapy: mechanisms and therapeutic opportunities

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Experimental hematology & oncology 2022年第1期11卷 106页

作者： Mengyuan Dai Miao Liu Hua Yang Can Küçük Hua You Laboratory for Excellence in Systems Biomedicine of Pediatric Oncology Department of Hematology and Oncology Pediatric Research Institute Chongqing Key Laboratory of Pediatrics Ministry of Education Key Laboratory of Child Development and Disorders International Science and Technology Cooperation Base of Child Development and Critical Disorders National Clinical Research Center for Child Health and Disorders Children's Hospital of Chongqing Medical University 136 Zhongshan Second Road Yuzhong District Chongqing 401122 China. Department of Pathology Brigham and Women's Hospital Harvard Medical School Boston USA. Department of Basic Medicine and Biomedical Engineering School of Medical Foshan University Foshan China. İzmir International Biomedicine and Genome Institute Dokuz Eylül University İzmir Türkiye. Basic and Translational Research Program İzmir Biomedicine and Genome Center İzmir Türkiye. Department of Medical Biology Faculty of Medicine Dokuz Eylül University İzmir Türkiye. Laboratory for Excellence in Systems Biomedicine of Pediatric Oncology Department of Hematology and Oncology Pediatric Research Institute Chongqing Key Laboratory of Pediatrics Ministry of Education Key Laboratory of Child Development and Disorders International Science and Technology Cooperation Base of Child Development and Critical Disorders National Clinical Research Center for Child Health and Disorders Children's Hospital of Chongqing Medical University 136 Zhongshan Second Road Yuzhong District Chongqing 401122 China. youhua307@***.

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Author Correction: The bromodomain containing protein BRD-9 orchestrates RAD51-RAD54 complex formation and regulates homologous recombination-mediated repair

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Nature communications 2022年第1期13卷 7190页

作者： Qin Zhou Jinzhou Huang Chao Zhang Fei Zhao Wootae Kim Xinyi Tu Yong Zhang Somaira Nowsheen Qian Zhu Min Deng Yuping Chen Bo Qin Kuntian Luo Baohua Liu Zhenkun Lou Robert W Mutter Jian Yuan Department of Oncology Mayo Clinic Rochester MN 55905 USA. Department of Radiation Oncology Hubei Cancer Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430022 China. Mayo Medical Scientist Training Program Mayo Clinic School of Medicine and Mayo Clinic Graduate School of Biomedical Sciences Mayo Clinic Rochester MN 55905 USA. Department of Molecular Pharmacology and Experimental Therapeutics Mayo Clinic Rochester MN 55905 USA. Research Center for Translational Medicine East Hospital Tongji University School of medicine Shanghai 200120 China. Key Laboratory of Arrhythmias of the Ministry of Education of China East Hospital Tongji University School of Medicine Shanghai 200120 China. Guangdong Key Laboratory of Genome Stability and Human Disease Prevention Department of Biochemistry & Molecular Biology School of Basic Medical Sciences Shenzhen University Health Science Center Shenzhen 518055 China. Department of Radiation Oncology Mayo Clinic Rochester MN 55905 USA. Mutter.Robert@mayo.edu. Research Center for Translational Medicine East Hospital Tongji University School of medicine Shanghai 200120 China. yuanjian229@***. Key Laboratory of Arrhythmias of the Ministry of Education of China East Hospital Tongji University School of Medicine Shanghai 200120 China. yuanjian229@***.

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Patterns of somatic structural variation in human cancer genomes (vol 578, pg 112, 2020)

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NATURE 2023年第7948期614卷 E38-E38页

作者： Li, Yilong Roberts, Nicola D. Wala, Jeremiah A. Shapira, Ofer Schumacher, Steven E. Kumar, Kiran Khurana, Ekta Waszak, Sebastian Korbel, Jan O. Haber, James E. Imielinski, Marcin Weischenfeldt, Joachim Beroukhim, Rameen Campbell, Peter J. Cancer Genome Project Wellcome Trust Sanger Institute Hinxton UK Totient Inc Cambridge MA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Haematology University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Korea Advanced Institute of Science and Technology Daejeon South Korea Department of Zoology Genetics and Physical Anthropology University of Santiago de Compostela Santiago de Compostela Spain Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) University of Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain Department of Zoology Genetics and Physical Anthropology (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain The Broad Institute of Harvard and MIT Cambridge MA USA Bioinformatics and Integrative Genomics Harvard University Cambridge MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Harvard Medical School Boston MA USA Massachusetts General Hospital Center for Cancer Research Charlestown MA USA Dana-Farber Cancer Institute Boston MA USA Department of Biostatistics and Computational Biology Dana-Farber Cancer Institute and Harvard Medical School Boston MA USA Weill Cornell Medical College New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine Ne

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Correction: Clinical and laboratory features associated with macrophage activation syndrome in Still's disease: data from the international AIDA Network Still's Disease Registry

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Internal and emergency medicine 2024年第1期19卷 255-257页

作者： Paola Triggianese Antonio Vitale Giuseppe Lopalco Henrique Ayres Mayrink Giardini Francesco Ciccia Ibrahim Al-Maghlouth Piero Ruscitti Petros Paul Sfikakis Florenzo Iannone Isabele Parente de Brito Antonelli Martina Patrone Kazi Nur Asfina Ilenia Di Cola Katerina Laskari Carla Gaggiano Abdurrahman Tufan Paolo Sfriso Lorenzo Dagna Roberto Giacomelli Andrea Hinojosa-Azaola Gaafar Ragab Lampros Fotis Haner Direskeneli Veronica Spedicato Marilia Ambiel Dagostin Daniela Iacono Hebatallah Hamed Ali Paola Cipriani Jurgen Sota Riza Can Kardas Sara Bindoli Corrado Campochiaro Luca Navarini Stefano Gentileschi Eduardo Martín-Nares Jiram Torres-Ruiz Moustafa Ali Saad Katerina Kourtesi Fatma Alibaz-Oner Gizem Sevik Annamaria Iagnocco Joanna Makowska Marcello Govoni Sara Monti Maria Cristina Maggio Francesco La Torre Emanuela Del Giudice José Hernández-Rodríguez Elena Bartoloni Giacomo Emmi Maria Sole Chimenti Armin Maier Gabriele Simonini Giovanni Conti Alma Nunzia Olivieri Maria Tarsia Amato De Paulis Alberto Lo Gullo Ewa Więsik-Szewczyk Ombretta Viapiana Benson Ogunjimi Samar Tharwat Sukran Erten Rossana Nuzzolese Anastasios Karamanakos Micol Frassi Alessandro Conforti Valeria Caggiano Achille Marino Gian Domenico Sebastiani Antonio Gidaro Enrico Tombetti Francesco Carubbi Giovanni Rubegni Alessandra Cartocci Alberto Balistreri Claudia Fabiani Bruno Frediani Luca Cantarini Rheumatology Allergology and Clinical Immunology Department of Systems Medicine University of Rome Tor Vergata Rome Italy. University of Rome Tor Vergata Rome Italy. Department of Medical Sciences Surgery and Neurosciences Research Center of Systemic Autoinflammatory Diseases Behçet's Disease Clinic and Rheumatology-Ophthalmology Collaborative Uveitis Center University of Siena Siena Italy. vitale.reumatologia@***. UOC Reumatologia Azienda Ospedaliero-Universitaria Senese ERN-RITA Center Siena Italy. vitale.reumatologia@***. Policlinico "Le Scotte" Viale Bracci 1 53100 Siena Italy. vitale.reumatologia@***. Rheumatology Unit Department of Emergency and Organ Transplantation University of Bari Bari Italy. Rheumatology Division Faculdade de Medicina Hospital das Clínicas Universidade de São Paulo São Paulo Brazil. Department of Precision Medicine Università Degli Studi Della Campania Luigi Vanvitelli Naples Italy. Rheumatology Unit Department of Medicine College of Medicine King Saud University Riyadh Saudi Arabia. College of Medicine Research Center College of Medicine King Saud University Riyadh Saudi Arabia. Rheumatology Unit Department of Biotechnological and Applied Clinical Sciences University of L'Aquila L'Aquila Italy. Joint Academic Rheumatology Program National and Kapodistrian University of Athens Medical School Athens Greece. Department of Medical Sciences Surgery and Neurosciences Research Center of Systemic Autoinflammatory Diseases Behçet's Disease Clinic and Rheumatology-Ophthalmology Collaborative Uveitis Center University of Siena Siena Italy. UOC Reumatologia Azienda Ospedaliero-Universitaria Senese ERN-RITA Center Siena Italy. Division of Rheumatology Department of Internal Medicine Gazi University Faculty of Medicine Ankara Turkey. Rheumatology Unit Department of Medicine (DIMED) University of Padova Padua Italy. Unit of Immunology Rheumatology Allergy and Rare Diseases IRCCS San Raffaele Hospital Milan Italy. Vita-Salute Sa

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Advanced pathological ageing should be represented in the ICD

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The lancet. Healthy longevity 2022年第1期3卷 e12页

作者： Evelyne Bischof Andrea B Maier Kai-Fu Lee Alex Zhavoronkov David Sinclair College of Basic and Clinical Medicine Shanghai University of Medicine and Health Sciences Shanghai China International Center for Multimorbidity and Complexity in Medicine Universität Zürich Switzerland. Department of Medical Oncology Renji Hospital School of Medicine Shanghai Jiao Department of Human Movement Sciences Amsterdam Movement Science Vrije Universiteit Amsterdam Amsterdam Netherlands Department of Medicine and Aged Care The Royal Melbourne Hospital The University of Melbourne Melbourne VIC Australia Healthy Longevity Translational Research Program Yong Loo Lin School of Medicine National University of Singapore Singapore Centre for Healthy Longevity National University Health System Singapore. Sinovation Ventures Beijing China Sinovation AI Institute Beijing China. Deep Longevity Limited Hong Kong Special Administrative Region China Insilico Medicine Hong Kong Hong Kong Science and Technology Park Pak Shek Kok Hong Kong Special Administrative Region China Buck Institute for Research on Aging Novato CA USA. Department of Genetics Blavatnik Institute Paul F Glenn Center for Biology of Aging Research Harvard Medical School Boston MA USA. Electronic address: david_sinclair@hms.harvard.edu.

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I’am hiQ – A Novel Accuracy Index for Imputed Genotypes

Research Square

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research Square 2021年

作者： Rosenberger, Albert Tozzi, Viola Hung, Rayjean J. Christiani, David C. Caporaso, Neil E. Liu, Geoffrey Bojesen, Stig E. Le Marchand, Loic Albanes, Demetrios Aldrich, Melinda C. Tardon, Adonina Fernández-Tardón, Guillermo Rennert, Gad Field, John K. Davies, Mike Liloglou, Triantafillos Kiemeney, Lambertus A. Lazarus, Philip Haugen, Aage Zienolddiny, Shanbeh Lam, Stephen Schabath, Matthew B. Andrew, Angeline S. Duell, Eric J. Arnold, Susanne M. Brunnsstöm, Hans Melander, Olle Goodman, Gary E. Chen, Chu Doherty, Jennifer A. Teare, Marion Dawn Cox, Angela Woll, Penella J. Risch, Angela Muley, Thomas R. Johansson, Mikael Brennan, Paul Landi, Maria Teresa Shete, Sanjay S. Amos, Christopher I. Bickeböller, Heike Department of Genetic Epidemiology University Medical Center Georg-August-University Göttingen Göttingen Germany Lunenfeld-Tanenbaum Research Institute Sinai Health System University of Toronto TorontoON Canada Department of Environmental Health Harvard T.H. Chan School of Public Health Massachusetts General Hospital Harvard Medical School BostonMA United States Division of Cancer Epidemiology and Genetics National Cancer Institute US National Institutes of Health BethesdaMD United States Medical Oncology and Medical Biophysics Princess Margaret Cancer Centre TorontoON Canada Medicine and Epidemiology Dalla Lana School of Public Health University of Toronto TorontoON Canada Department of Clinical Biochemistry Herlev and Gentofte Hospital Copenhagen University Hospital Copenhagen Denmark Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Copenhagen General Population Study Herlev and Gentofte Hospital Copenhagen Denmark Epidemiology Program University of Hawaii Cancer Center HonoluluHI United States Department of Thoracic Surgery Division of Epidemiology Vanderbilt University Medical Center NashvilleTN United States University of Oviedo ISPA and CIBERESP Faculty of Medicine Oviedo Spain Clalit National Cancer Control Center at Carmel Medical Center Technion Faculty of Medicine Haifa Israel Roy Castle Lung Cancer Research Programme The University of Liverpool Department of Molecular and Clinical Cancer Medicine Liverpool United Kingdom Departments of Health Evidence and Urology Radboud University Medical Center Nijmegen Netherlands Department of Pharmaceutical Sciences College of Pharmacy Washington State University SpokaneWA United States National Institute of Occupational Health Oslo Norway British Columbia Cancer Agency VancouverBC Canada Department of Cancer Epidemiology H. Lee Moffitt Cancer Center and Research Institute TampaFL United States Department of Epidemiology Geisel School of Medicine Dartmou

Background: Imputation of untyped markers is a standard tool in genome-wide association studies to close the gap between directly genotyped and other known DNA variants. However, high accuracy with which genotypes are imputed is fundamental. Several accuracy measures have been proposed and some are implemented in imputation software, unfortunately diversely across platforms. In the present paper we introduce I’am hiQ, an independent pair of accuracy measures that can be applied to dosage files, the output of all imputation software. I’am (imputation accuracy measure) quantifies the average amount of individual-specific versus population-specific genotype information in a linear manner. hiQ (heterogeneity in quantities of dosages) addresses the inter-individual heterogeneity between dosages of a marker across the sample at hand. Results: Applying both measures to a large case-control sample of the International Lung Cancer Consortium (ILCCO), comprising 27,065 individuals, we found meaningful thresholds for I’am and hiQ suitable to classify markers of poor accuracy. We demonstrate how Manhattan-like plots and moving averages of I’am and hiQ can be useful to identify regions enriched with less accurate imputed markers, whereas these regions would by missed when applying the accuracy measure info (implemented in IMPUTE2). Conclusion: We recommend using I’am hiQ additional to other accuracy scores for variant filtering before stepping into the analysis of imputed GWAS data. © 2021, CC BY.

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