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Author Correction: Greengenes2 unifies microbial data in a single reference tree

Nature biotechnology 2024年第5期42卷 813页

作者： Daniel McDonald Yueyu Jiang Metin Balaban Kalen Cantrell Qiyun Zhu Antonio Gonzalez James T Morton Giorgia Nicolaou Donovan H Parks Søren M Karst Mads Albertsen Philip Hugenholtz Todd DeSantis Se Jin Song Andrew Bartko Aki S Havulinna Pekka Jousilahti Susan Cheng Michael Inouye Teemu Niiranen Mohit Jain Veikko Salomaa Leo Lahti Siavash Mirarab Rob Knight Department of Pediatrics University of California San Diego School of Medicine La Jolla CA USA. Department of Electrical and Computer Engineering University of California San Diego La Jolla CA USA. Bioinformatics and Systems Biology Program University of California San Diego La Jolla CA USA. Department of Computer Science and Engineering University of California San Diego La Jolla CA USA. School of Life Sciences Arizona State University Tempe AZ USA. Biodesign Center for Fundamental and Applied Microbiomics Arizona State University Tempe AZ USA. Biostatistics & Bioinformatics Branch Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda MD USA. Halicioglu Data Science Institute University of California San Diego La Jolla CA USA. Australian Centre for Ecogenomics School of Chemistry and Molecular Biosciences The University of Queensland St Lucia Queensland Australia. Department of Obstetrics and Gynecology Columbia University New York NY USA. Department of Chemistry and Bioscience Aalborg University Aalborg Denmark. Department of Informatics Second Genome Brisbane CA USA. Center for Microbiome Innovation Jacobs School of Engineering University of California San Diego La Jolla CA USA. Finnish Institute for Health and Welfare Helsinki Finland. Institute for Molecular Medicine Finland FIMM-HiLIFE Helsinki Finland. Division of Cardiology Brigham and Women's Hospital Boston MA USA. Cedars-Sinai Medical Center Los Angeles CA USA. Cambridge Baker Systems Genomics Initiative Baker Heart and Diabetes Institute Melbourne Victoria Australia. Cambridge Baker Systems Genomics Initiative Department of Public Health and Primary Care University of Cambridge Cambridge UK. Division of Medicine Turku University Hospital and University of Turku Turku Finland. Sapient Bioanalytics LLC San Diego CA USA. Department of Computing University of Turku Turku Finland. Department of Pediatrics Uni

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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (vol 50, pg 1412, 2018)

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NATURE GENETICS 2018年第12期50卷 1755-1755页

作者： Evangelou, Evangelos Warren, Helen R. Mosen-Ansorena, David Mifsud, Borbala Pazoki, Raha Gao, He Ntritsos, Georgios Dimou, Niki Cabrera, Claudia P. Karaman, Ibrahim Fu Liang Ng Evangelou, Marina Witkowska, Katarzyna Tzanis, Evan Hellwege, Jacklyn N. Giri, Ayush Edwards, Digna R. Velez Sun, Yan V. Cho, Kelly Gaziano, J. Michael Wilson, Peter W. F. Tsao, Philip S. Kovesdy, Csaba P. Esko, Tonu Magi, Reedik Milani, Lili Almgren, Peter Boutin, Thibaud Debette, Stephanie Ding, Jun Giulianini, Franco Holliday, Elizabeth G. Jackson, Anne U. Li-Gao, Ruifang Lin, Wei-Yu Luan, Jian'an Mangino, Massimo Oldmeadow, Christopher Prins, Bram Peter Qian, Yong Sargurupremraj, Muralidharan Shah, Nabi Surendran, Praveen Theriault, Sebastien Verweij, Niek Willems, Sara M. Zhao, Jing-Hua Amouyel, Philippe Connell, John de Mutsert, Renee Doney, Alex S. F. Farrall, Martin Menni, Cristina Morris, Andrew D. Noordam, Raymond Pare, Guillaume Poulter, Neil R. Shields, Denis C. Stanton, Alice Thom, Simon Abecasis, Goncalo Amin, Najaf Arking, Dan E. Ayers, Kristin L. Barbieri, Caterina M. Batini, Chiara Bis, Joshua C. Blake, Tineka Bochud, Murielle Boehnke, Michael Boerwinkle, Eric Boomsma, Dorret I. Bottinger, Erwin P. Braund, Peter S. Brumat, Marco Campbell, Archie Campbell, Harry Chakravarti, Aravinda Chambers, John C. Chauhan, Ganesh Ciullo, Marina Cocca, Massimiliano Collins, Francis Cordell, Heather J. Davies, Gail de Borst, Martin H. de Geus, Eco J. Deary, Ian J. Deelen, Joris Del Greco, Fabiola M. Demirkale, Cumhur Yusuf Dorr, Marcus Ehret, Georg B. Elosua, Roberto Enroth, Stefan Erzurumluoglu, A. Mesut Ferreira, Teresa Franberg, Mattias Franco, Oscar H. Gandin, Ilaria Gasparini, Paolo Giedraitis, Vilmantas Gieger, Christian Girotto, Giorgia Goel, Anuj Gow, Alan J. Gudnason, Vilmundur Guo, Xiuqing Gyllensten, Ulf Hamsten, Anders Harris, Tamara B. Harris, Sarah E. Hartman, Catharina A. Havulinna, Aki S. Hicks, Andrew A. Hofer, Edith Hofman, Albert Hottenga, Jouke-Jan Huffman, Jennifer E. Hwang, Shih-Jen Ingelsson, Erik James, Alan Jansen Department of Epidemiology and Biostatistics Imperial College London London UK. Department of Hygiene and Epidemiology University of Ioannina Medical School Ioannina Greece. William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK. National Institute for Health Research Barts Cardiovascular Biomedical Research Center Queen Mary University of London London UK. MRC-PHE Centre for Environment and Health Imperial College London London UK. Department of Mathematics Imperial College London London UK. Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Medical Center Tennessee Valley Healthcare System (626)/Vanderbilt University Nashville TN USA. Vanderbilt Genetics Institute Vanderbilt Epidemiology Center Department of Obstetrics and Gynecology Vanderbilt University Medical Center Tennessee Valley Health Systems VA Nashville TN USA. Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA. Department of Biomedical Informatics Emory University School of Medicine Atlanta GA USA. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA. Division of Aging Department of Medicine Brigham and Women's Hospital Department of Medicine Harvard Medical School Boston MA USA. Atlanta VAMC and Emory Clinical Cardiovascular Research Institute Atlanta GA USA. VA Palo Alto Health Care System Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA. Nephrology Section Memphis VA Medical Center and University of Tennessee Health Science Center Memphis TN USA. Estonian Genome Center University of Tartu Tartu Estonia. Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Department Clinical Sciences Malmö Lund University Malmö Sweden. MRC

High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.

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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 M

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.

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Dense sampling of bird diversity increases power of comparative genomics (vol 587, pg 252, 2020)

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NATURE 2021年第7856期592卷 E24-E24页

作者： Feng, Shaohong Stiller, Josefin Deng, Yuan Armstrong, Joel Fang, Qi Reeve, Andrew Hart Xie, Duo Chen, Guangji Guo, Chunxue Faircloth, Brant C. Petersen, Bent Wang, Zongji Zhou, Qi Diekhans, Mark Chen, Wanjun Andreu-Sanchez, Sergio Margaryan, Ashot Howard, Jason Travis Parent, Carole Pacheco, George Sinding, Mikkel-Holger S. Puetz, Lara Cavill, Emily Ribeiro, Angela M. Eckhart, Leopold Fjeldsa, Jon Hosner, Peter A. Brumfield, Robb T. Christidis, Les Bertelsen, Mads F. Sicheritz-Ponten, Thomas Tietze, Dieter Thomas Robertson, Bruce C. Song, Gang Borgia, Gerald Claramunt, Santiago Lovette, Irby J. Cowen, Saul J. Njoroge, Peter Dumbacher, John Philip Ryder, Oliver A. Fuchs, Jerome Bunce, Michael Burt, David W. Cracraft, Joel Meng, Guanliang Hackett, Shannon J. Ryan, Peter G. Jonsson, Knud Andreas Jamieson, Ian G. da Fonseca, Rute R. Braun, Edward L. Houde, Peter Mirarab, Siavash Suh, Alexander Hansson, Bengt Ponnikas, Suvi Sigeman, Hanna Stervander, Martin Frandsen, Paul B. van der Zwan, Henriette van der Sluis, Rencia Visser, Carina Balakrishnan, Christopher N. Clark, Andrew G. Fitzpatrick, John W. Bowman, Reed Chen, Nancy Cloutier, Alison Sackton, Timothy B. Edwards, Scott V. Foote, Dustin J. Shakya, Subir B. Sheldon, Frederick H. Vignal, Alain Soares, Andre E. R. Shapiro, Beth Gonzalez-Solis, Jacob Ferrer-Obiol, Joan Rozas, Julio Riutort, Marta Tigano, Anna Friesen, Vicki Dalen, Love Urrutia, Araxi O. Szekely, Tamas Liu, Yang Campana, Michael G. Corvelo, Andre Fleischer, Robert C. Rutherford, Kim M. Gemmell, Neil J. Dussex, Nicolas Mouritsen, Henrik Thiele, Nadine Delmore, Kira Liedvogel, Miriam Franke, Andre Hoeppner, Marc P. Krone, Oliver Fudickar, Adam M. Mila, Borja Ketterson, Ellen D. Fidler, Andrew Eric Friis, Guillermo Parody-Merino, Angela M. Battley, Phil F. Cox, Murray P. Lima, Nicholas Costa Barroso Prosdocimi, Francisco Parchman, Thomas Lee Schlinger, Barney A. Loiselle, Bette A. Blake, John G. Lim, Haw Chuan Day, Lainy B. Fuxjager, Matthew J. Baldwin, Maude W. Braun, Michael J. Wirthlin, Morgan Dikow, China National GeneBank BGI-Shenzhen Shenzhen China State Key Laboratory of Genetic Resources and Evolution Kunming Institute of Zoology Chinese Academy of Sciences Kunming China BGI-Shenzhen Shenzhen China Villum Centre for Biodiversity Genomics Section for Ecology and Evolution Department of Biology University of Copenhagen Copenhagen Denmark BGI Education Center University of Chinese Academy of Sciences Shenzhen China MOE Laboratory of Biosystems Homeostasis and Protection Life Sciences Institute Zhejiang University Hangzhou China Department of Neuroscience and Developmental Biology University of Vienna Vienna Austria Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences Kunming China James D. Watson Institute of Genome Sciences Hangzhou China UC Santa Cruz Genomics Institute UC Santa Cruz Santa Cruz CA USA Natural History Museum of Denmark University of Copenhagen Copenhagen Denmark Center for Macroecology Evolution and Climate GLOBE Institute University of Copenhagen Copenhagen Denmark Department of Biological Sciences Louisiana State University Baton Rouge LA USA Museum of Natural Science Louisiana State University Baton Rouge LA USA Centre of Excellence for Omics-Driven Computational Biodiscovery (COMBio) Faculty of Applied Sciences AIMST University Kedah Malaysia Section for Evolutionary Genomics The GLOBE Institute Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Institute of Molecular Biology National Academy of Sciences Yerevan Armenia University Museum Norwegian University of Science and Technology Trondheim Norway Center for Reproductive Medicine The 2nd Affiliated Hospital School of Medicine Zhejiang University Hangzhou China Novogene Durham NC USA Duke University Medical Center Durham NC USA The Rockefeller University New York NY USA Howard Hughes Medical Institute Chevy Chase MD USA Department of Dermatology Medical University of Vienna Vienna Austria

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Heterogeneity analysis provides evidence for a genetically homogeneous subtype of bipolar-disorder

arXiv

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arXiv 2024年

作者： McGrouther, Caroline C. Rangan, Aaditya V. Florio, Arianna Di Elman, Jeremy A. Schork, Nicholas J. Kelsoe, John Stahl, Eli A. Breen, Gerome Forstner, Andreas J. McQuillin, Andrew Ripke, Stephan Trubetskoy, Vassily Mattheisen, Manuel Wang, Yunpeng Coleman, Jonathan R.I. Gaspar, Héléna A. de Leeuw, Christiaan A. Steinberg, Stacy Whitehead Pavlides, Jennifer M. Trzaskowski, Maciej Byrne, Enda M. Pers, Tune H. Holmans, Peter A. Richards, Alexander L. Abbott, Liam Agerbo, Esben Akil, Huda Albani, Diego Alliey-Rodriguez, Ney Als, Thomas D. Anjorin, Adebayo Antilla, Verneri Awasthi, Swapnil Badner, Judith A. Bækvad-Hansen, Marie Barchas, Jack D. Bass, Nicholas Bauer, Michael Belliveau, Richard Bergen, Sarah E. Pedersen, Carsten Bøcker Bøen, Erlend Boks, Marco P. Boocock, James Budde, Monika Bunney, William Burmeister, Margit Bybjerg-Grauholm, Jonas Byerley, William Casas, Miquel Cerrato, Felecia Cervantes, Pablo Chambert, Kimberly Charney, Alexander W. Chen, Danfeng Churchhouse, Claire Clarke, Toni-Kim Coryell, William Craig, David W. Cruceanu, Cristiana Curtis, David Czerski, Piotr M. Dale, Anders M. de Jong, Simone Degenhardt, Franziska Del-Favero, Jurgen DePaulo, J. Raymond Djurovic, Srdjan Dobbyn, Amanda L. Dumont, Ashley Elvsåshagen, Torbjørn Escott-Price, Valentina Fan, Chun Chieh Fischer, Sascha B. Flickinger, Matthew Foroud, Tatiana M. Forty, Liz Frank, Josef Fraser, Christine Freimer, Nelson B. Frisén, Louise Gade, Katrin Gage, Diane Garnham, Julie Giambartolomei, Claudia Pedersen, Marianne Giørtz Goldstein, Jaqueline Gordon, Scott D. Gordon-Smith, Katherine Green, Elaine K. Green, Melissa J. Greenwood, Tiffany A. Grove, Jakob Guan, Weihua Guzman-Parra, José Hamshere, Marian L. Hautzinger, Martin Heilbronner, Urs Herms, Stefan Hipolito, Maria Hoffmann, Per Holland, Dominic Huckins, Laura Jamain, Stéphane Johnson, Jessica S. Kandaswamy, Radhika Karlsson, Robert Kennedy, James L. Kittel-Schneider, Sarah Knowles, James A. Kogevinas, Manolis Koller, Anna C. Kupka, Ralph Lavebratt, Catharina Lawrence, Jacob Lawson, Courant Institute of Mathematical Sciences New York University New YorkNY United States School of Medicine Division of Psychological Medicine and Clinical Neurosciences Cardiff University Cardiff United Kingdom Department of Psychiatry University of California San Diego San DiegoCA United States The Translational Genomics Research Institute Quantitative Medicine and Systems Biology PhoenixAZ United States Department of Psychiatry University of California San Diego La Jolla CA United States Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New YorkNY United States Department of Psychiatry Icahn School of Medicine at Mount Sinai New YorkNY United States Medical and Population Genetics Broad Institute CambridgeMA United States MRC Social Genetic and Developmental Psychiatry Centre King’s College London London United Kingdom NIHR BRC for Mental Health King’s College London London United Kingdom University of Basel Basel Switzerland Institute of Human Genetics University of Bonn School of Medicine University Hospital Bonn DE Bonn Germany Centre for Human Genetics University of Marburg DE Marburg Germany Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland Division of Psychiatry University College London London United Kingdom Stanley Center for Psychiatric Research Broad Institute CambridgeMA United States Department of Psychiatry and Psychotherapy Charité - Universitätsmedizin Berlin Germany Analytic and Translational Genetics Unit Massachusetts General Hospital BostonMA United States iSEQ Center for Integrative Sequencing Aarhus University DK Aarhus Denmark Department of Biomedicine - Human Genetics Aarhus University DK Aarhus Denmark Department of Clinical Neuroscience Centre for Psychiatry Research Karolinska Institutet Stockholm Sweden Department of Psychiatry Psychosomatics and Psychotherapy Center of Mental Health University Hospital Würzburg DE Würzburg Ge

Background: Bipolar Disorder (BD) is a complex disease. It is heterogeneous, both at the phenotypic and genetic level, although the extent and impact of this heterogeneity is not fully understood. One way to assess this heterogeneity is to look for patterns in the subphenotype data. Because of the variability in how phenotypic data was collected by the various BD studies over the years, homogenizing this subphenotypic data is a challenging task, and so is replication. An alternative methodology, taken here, is to set aside the intricacies of subphenotype and allow the genetic data itself to determine which subjects define a homogeneous genetic subgroup (termed ‘bicluster’ below). Results: In this paper, we leverage recent advances in heterogeneity analysis to look for genetically-driven subgroups (i.e., biclusters) within the broad phenotype of Bipolar Disorder. We first apply this covariate-corrected biclustering algorithm to a cohort of 2524 BD cases and 4106 controls from the Bipolar Disease Research Network (BDRN) within the Psychiatric genomics Consortium (PGC). We find evidence of genetic heterogeneity delineating a statistically significant bicluster comprising a subset of BD cases which exhibits a disease-specific pattern of differential-expression across a subset of SNPs. This disease-specific genetic pattern (i.e., ‘genetic subgroup’) replicates across the remaining data-sets collected by the PGC containing 5781/8289, 3581/7591, and 6825/9752 cases/controls, respectively. This genetic subgroup (discovered without using any BD subtype information) was more prevalent in Bipolar type-I than in Bipolar type-II. Conclusions: Our methodology has successfully identified a replicable homogeneous genetic subgroup of bipolar disorder. This subgroup may represent a collection of correlated genetic risk-factors for BDI. By investigating the subgroup’s bicluster-informed polygenic-risk-scoring (PRS), we find that the disease-specific pattern highlighted by the bicluste

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Author Correction: The Rho GTPase Rnd1 suppresses mammary tumorigenesis and EMT by restraining Ras-MAPK signalling

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Nature cell biology 2019年第4期21卷 534页

作者： Tomoyo Okada Surajit Sinha Ilaria Esposito Gaia Schiavon Miguel A López-Lago Wenjing Su Christine A Pratilas Cristina Abele Jonathan M Hernandez Masahiro Ohara Morihito Okada Agnes Viale Adriana Heguy Nicholas D Socci Anna Sapino Venkatraman E Seshan Stephen Long Giorgio Inghirami Neal Rosen Filippo G Giancotti Cell Biology Program Sloan-Kettering Institute for Cancer Research Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Department of Surgery Memorial Sloan-Kettering Cancer Center New York 10065 USA. Breast Unit Royal Marsden Hospital London SW3 6JJ UK. Department of Surgery and Center for Cell Engineering Memorial Sloan-Kettering Cancer Center New York 10065 USA. Molecular Pharmacology and Chemistry Program Sloan-Kettering Institute for Cancer Research Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Department of Pediatrics Memorial Hospital Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. The Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University School of Medicine Baltimore Maryland 21287 USA. Department of Biomedical Sciences and Human Oncology Center of Experimental Medicine and Research University of Torino Torino 10126 Italy. Department of Surgery Memorial Hospital Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Department of Surgical Oncology Research Institute for Radiation Biology and Medicine Graduate School of Biomedical Sciences Hiroshima University Hiroshima 734-8551 Japan. Genomics Core Facility Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Geoffrey Beene Translational Oncology Core Facility Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Department of Pathology Office for Collaborative Science New York University New York 10016 USA. Bioinformatics Core Facility Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Department of Medical Sciences Center of Experimental Medicine and Research University of Torino Torino 10126 Italy. Department of Epidemiology and Biostatistics Memorial Hospital Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Structural Biology Program Sloan-Kettering Institute for Cancer Research Memorial Sloan-Kettering Cancer Center New Y

In the version of this Article originally published the same blot was inadvertently presented as both p-Rb and Cyclin A in Fig. 2a. This blot corresponds to the p-Rb panel, as can be seen in the unprocessed version of these blots in Supplementary Fig. 9. The corrected version of the panel is shown below, together with a completely uncropped image of both blots. In addition, in the 'Viral transduction' section of the Methods, the pLKO.1 plasmids encoding short hairpin RNAs targeting human Rnd1 were incorrectly listed as clones TRCN0000018338 and TRCN0000039977. The correct clone numbers are TRCN0000047434 and TRCN0000047435.

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Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

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Nature genetics 2019年第7期51卷 1192-1193页

作者： Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Joshua C Bis Tomi Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany. Centre for Brain Research Indian Institute of Science Bangalore India. INSERM U1219 Bordeaux Population Health Research Center University of Bordeaux Bordeaux France. Stroke Research Group Division of Clinical Neurosciences University of Cambridge Cambridge UK. Department of Neurology Institute for Neurodegenerative Disease Bordeaux University Hospital Bordeaux France. Laboratory for Statistical Analysis RIKEN Center for Integrative Medical Sciences Yokohama Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Osaka Japan. Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan. Department of Neurology Massachusetts General Hospital (MGH) Harvard Medical School Boston MA USA. Laboratory of Experimental Cardiology Department of Cardiology Division of Heart and Lungs University Medical Center Utrecht University of Utrecht Utrecht the Netherlands. deCODE genetics/AMGEN Inc. Reykjavik Iceland. Center for Genomic Medicine MGH Boston MA USA. J. Philip Kistler Stroke Research Center Department of Neurology MGH Boston MA USA. Program in Medical and Population Genetics Broad Institute Cambridge MA USA. Population Health Research Institute McMaster University Hamilton Ontario Canada. Department of Epidemiology Erasmus University Medical Center Rotterdam the Netherlands. Department of Radiology and Nuclear Medicine Erasmus University Medical Center Rotterdam the Netherlands. Department of Medicine and Clinical Science Graduate School of Medical Sciences Kyushu University Fukuoka Japan. Department of Clinical Sciences Lund University Malmö Sweden. INSERM Institut Pasteur de Lille LabEx DISTALZ-UMR1167 Risk Factors and Molecular Determinants of Aging-Related Diseases Université Lille Lille France. Centre Hospitalier Université Lille Epidemiology and Public Health D

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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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

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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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Africa-specific human genetic variation near CHD1L associates with HIV-1 load (vol 620, pg 1025, 2023)

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NATURE 2023年第7979期621卷 E42-E42页

作者： McLaren, Paul J. Porreca, Immacolata Iaconis, Gennaro Mok, Hoi Ping Mukhopadhyay, Subhankar Karakoc, Emre Cristinelli, Sara Pomilla, Cristina Bartha, Istvan Thorball, Christian W. Tough, Riley H. Angelino, Paolo Kiar, Cher S. Carstensen, Tommy Fatumo, Segun Porter, Tarryn Jarvis, Isobel Skarnes, William C. Bassett, Andrew DeGorter, Marianne K. Moorthy, Mohana Prasad Sathya Tuff, Jeffrey F. Kim, Eun-Young Walter, Miriam Simons, Lacy M. Bashirova, Arman Buchbinder, Susan Carrington, Mary Cossarizza, Andrea De Luca, Andrea Goedert, James J. Goldstein, David B. Haas, David W. Herbeck, Joshua T. Johnson, Eric O. Kaleebu, Pontiano Kilembe, William Kirk, Gregory D. Kootstra, Neeltje A. Kral, Alex H. Lambotte, Olivier Luo, Ma Mallal, Simon Martinez-Picado, Javier Meyer, Laurence Miro, Jose M. Moodley, Pravi Motala, Ayesha A. Mullins, James I. Nam, Kireem Obel, Niels Pirie, Fraser Plummer, Francis A. Poli, Guido Price, Matthew A. Rauch, Andri Theodorou, Ioannis Trkola, Alexandra Walker, Bruce D. Winkler, Cheryl A. Zagury, Jean-Francois Montgomery, Stephen B. Ciuffi, Angela Hultquist, Judd F. Wolinsky, Steven M. Dougan, Gordon Lever, Andrew M. L. Gurdasani, Deepti Groom, Harriet Sandhu, Manjinder S. Fellay, Jacques Sexually Transmitted and Blood-Borne Infections Division at JC Wilt Infectious Diseases Research Centre National Microbiology Laboratory Branch Public Health Agency of Canada Winnipeg Manitoba Canada Department of Medical Microbiology and Infectious Diseases University of Manitoba Winnipeg Manitoba Canada Vaccine and Therapeutics Laboratory Medical and Scientific Affairs National Microbiology Laboratory Branch Public Health Agency of Canada Winnipeg Manitoba Canada Wellcome Trust Sanger Institute Hinxton UK Department of Medicine University of Cambridge Cambridge UK Department of Medicine National University of Singapore Singapore Singapore Peter Gorer Department of Immunobiology School of Immunology and Microbial Sciences King’s College London London UK Institute of Microbiology Lausanne University Hospital and University of Lausanne Lausanne Switzerland Global Health Institute School of Life Sciences École Polytechnique Fédérale de Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland Precision Medicine Unit Biomedical Data Science Center Lausanne University Hospital (CHUV) and University of Lausanne Lausanne Switzerland The African Computational Genomics (TACG) Research Group MRC/UVRI and LSHTM Uganda Research Unit Entebbe Uganda Department of Non-Communicable Disease Epidemiology Faculty of Epidemiology and Population Health London School of Hygiene and Tropical Medicine London UK The Jackson Laboratory for Genomic Medicine Farmington CT USA Department of Pathology Stanford University School of Medicine Stanford CA USA Department of Genetics Stanford University School of Medicine Stanford CA USA Division of Infectious Diseases Feinberg School of Medicine Northwestern University Chicago IL USA Basic Science Program Frederick National Laboratory for Cancer Research National Cancer Institute Frederick MD USA Laboratory of Integrative Cancer Immunology Center for Cancer Research National Cancer Institute Bethesda

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Publisher Correction: Integrating genomics and metabolomics for scalable non-ribosomal peptide discovery

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Nature communications 2021年第1期12卷 4318页

作者： Bahar Behsaz Edna Bode Alexey Gurevich Yan-Ni Shi Florian Grundmann Deepa Acharya Andrés Mauricio Caraballo-Rodríguez Amina Bouslimani Morgan Panitchpakdi Annabell Linck Changhui Guan Julia Oh Pieter C Dorrestein Helge B Bode Pavel A Pevzner Hosein Mohimani Bioinformatics and Systems Biology Program University of California San Diego La Jolla CA USA. Center for Microbiome Innovation University of California at San Diego La Jolla CA USA. Computational Biology Department School of Computer Science Carnegie Mellon University Pittsburgh PA USA. Molecular Biotechnology Department of Biosciences Goethe University Frankfurt Frankfurt am Main Germany. Center for Algorithmic Biotechnology Institute of Translational Biomedicine St. Petersburg State University St Petersburg Russia. Tiny Earth Chemistry Hub University of Wisconsin-Madison Madison WI USA. Collaborative Mass Spectrometry Innovation Center Skaggs School of Pharmacy and Pharmaceutical Sciences University of California San Diego La Jolla CA USA. The Jackson Laboratory of Medical Genomics Farmington CT USA. Molecular Biotechnology Department of Biosciences Goethe University Frankfurt Frankfurt am Main Germany. helge.bode@mpi-marburg.mpg.de. Buchmann Institute for Molecular Life Sciences (BMLS) Goethe University Frankfurt & Senckenberg Research Institute Frankfurt am Main Germany. helge.bode@mpi-marburg.mpg.de. Max-Planck-Institute for Terrestrial Microbiology Department for Natural Products in Organismic Interactions Marburg Germany. helge.bode@mpi-marburg.mpg.de. Department of Computer Science and Engineering University of California San Diego La Jolla CA USA. ppevzner@ucsd.edu. Computational Biology Department School of Computer Science Carnegie Mellon University Pittsburgh PA USA. hoseinm@andrew.cmu.edu.

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