Lori L. Bonnycastle

ORCID: 0000-0003-0663-3944
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Research Areas
  • Genetic Associations and Epidemiology
  • Pancreatic function and diabetes
  • Genetic Mapping and Diversity in Plants and Animals
  • Nutrition, Genetics, and Disease
  • Genomics and Rare Diseases
  • Bioinformatics and Genomic Networks
  • Adipose Tissue and Metabolism
  • Epigenetics and DNA Methylation
  • Genetic and phenotypic traits in livestock
  • RNA modifications and cancer
  • Liver Disease Diagnosis and Treatment
  • Metabolism, Diabetes, and Cancer
  • Lipid metabolism and disorders
  • Cancer-related molecular mechanisms research
  • Diet, Metabolism, and Disease
  • Peroxisome Proliferator-Activated Receptors
  • Cancer-related gene regulation
  • Monoclonal and Polyclonal Antibodies Research
  • Diet and metabolism studies
  • RNA Research and Splicing
  • Genetics and Physical Performance
  • Congenital heart defects research
  • CRISPR and Genetic Engineering
  • Regulation of Appetite and Obesity
  • Glycosylation and Glycoproteins Research

National Human Genome Research Institute
2016-2025

National Institutes of Health
2016-2025

University of Arizona
2020

Icahn School of Medicine at Mount Sinai
2020

Boston Children's Hospital
2020

Government of the United States of America
2019

Eli Lilly (United Kingdom)
2016

University Hospital of Zurich
2011

Carnegie Mellon University
2011

University of North Carolina at Chapel Hill
2007

Konrad J. Karczewski Laurent C. Francioli Grace Tiao Beryl B. Cummings Jessica Alföldi and 95 more Qingbo Wang Ryan L. Collins Kristen M. Laricchia Andrea Ganna Daniel P. Birnbaum Laura D. Gauthier Harrison Brand Matthew Solomonson Nicholas A. Watts Daniel R. Rhodes Moriel Singer‐Berk Eleina England Eleanor G. Seaby Jack A. Kosmicki Raymond K. Walters Katherine Tashman Yossi Farjoun Eric Banks Timothy Poterba Arcturus Wang Cotton Seed Nicola Whiffin Jessica X. Chong Kaitlin E. Samocha Emma Pierce‐Hoffman Zachary Zappala Anne O’Donnell‐Luria Eric Vallabh Minikel Ben Weisburd Monkol Lek James S. Ware Christopher Vittal Irina M. Armean Louis Bergelson Kristian Cibulskis Kristen M. Connolly Miguel Covarrubias Stacey Donnelly Steven Ferriera Stacey Gabriel Jeff Gentry Namrata Gupta Thibault Jeandet Diane Kaplan Christopher Llanwarne Ruchi Munshi Sam Novod Nikelle Petrillo David Roazen Valentín Ruano-Rubio Andrea Saltzman Molly Schleicher José Soto Kathleen Tibbetts Charlotte Tolonen Gordon Wade Michael E. Talkowski Carlos A. Aguilar‐Salinas Tariq Ahmad Christine M. Albert Diego Ardissino Gil Atzmon John Barnard Laurent Beaugerie Emelia J. Benjamin Michael Boehnke Lori L. Bonnycastle Erwin P. Böttinger Donald W. Bowden Matthew J. Bown John C. Chambers Juliana C.N. Chan Daniel I. Chasman Judy H. Cho Mina K. Chung Bruce M. Cohen Adolfo Correa Dana Dabelea Mark J. Daly Dawood Darbar Ravindranath Duggirala Josée Dupuis Patrick T. Ellinor Roberto Elosúa Jeanette Erdmann Tõnu Esko Martti Färkkilâ José C. Florez André Franke Gad Getz Benjamin Gläser Stephen J. Glatt David Goldstein Clicerio González Leif Groop

Abstract Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences gene disruption: crucial for function an organism will be depleted such in natural populations, whereas non-essential tolerate their accumulation. However, predicted loss-of-function enriched annotation errors, and tend to found at extremely low frequencies, so analysis requires careful variant very large sample sizes 1 . Here we describe aggregation 125,748...

10.1038/s41586-020-2308-7 article EN cc-by Nature 2020-05-27
Cristen J. Willer Ellen M. Schmidt Sebanti Sengupta Gina M. Peloso Stefan Gustafsson and 95 more Stavroula Kanoni Andrea Ganna Ming‐Huei Chen Martin L. Buchkovich Samia Mora J. Beckmann Jennifer L. Bragg‐Gresham Hsing‐Yi Chang Ayşe Demirkan Heleen M. den Hertog Ron Do Louise A. Donnelly Georg Ehret Tõnu Esko Mary F. Feitosa Teresa Ferreira Krista Fischer Pierre Fontanillas Ross M. Fraser Daniel F. Freitag Deepti Gurdasani Kauko Heikkilä Elina Hyppönen Aaron Isaacs Anne Jackson Åsa Johansson Toby Johnson Marika Kaakinen Johannes Kettunen Marcus E. Kleber Xiaohui Li Jian’an Luan Leo‐Pekka Lyytikäinen Patrik K. E. Magnusson Massimo Mangino Evelin Mihailov May E. Montasser Martina Müller‐Nurasyid Ilja M. Nolte Jeffrey R. O’Connell Cameron D. Palmer Markus Perola Ann-Kristin Petersen Serena Sanna Richa Saxena Susan K. Service Sonia Shah Dmitry Shungin Carlo Sidore Ci Song Rona J. Strawbridge Ida Surakka Toshiko Tanaka Tanya M. Teslovich Guðmar Þorleifsson Evita G. van den Herik Benjamin F. Voight Kelly A. Volcik Lindsay L. Waite Andrew Wong Ying Wu Weihua Zhang Devin Absher Gershim Asiki Inês Barroso Latonya Been Jennifer L. Bolton Lori L. Bonnycastle Paolo Brambilla Mary Susan Burnett Giancarlo Cesana Maria Dimitriou Alex S. F. Doney Angela Döring Paul Elliott Stephen E. Epstein Guðmundur I. Eyjólfsson Bruna Gigante Mark O. Goodarzi Harald Grallert Martha L. Gravito Christopher J. Groves Göran Hallmans Anna-Liisa Hartikainen Caroline Hayward Dena Hernández Andrew A. Hicks Hilma Hólm Yi-Jen Hung Thomas Illig Michelle R. Jones Pontiano Kaleebu John J.P. Kastelein Kay‐Tee Khaw Eric H. Kim

10.1038/ng.2797 article EN Nature Genetics 2013-10-06
Elizabeth K. Speliotes Cristen J. Willer Sonja I. Berndt Keri L. Monda Guðmar Þorleifsson and 95 more Anne Jackson Hana Lango Allen Cecilia M. Lindgren Jian’an Luan Reedik Mägi Joshua C. Randall Sailaja Vedantam Thomas W. Winkler Lu Qi Tsegaselassie Workalemahu Iris M. Heid Valgerður Steinthórsdóttir Heather M. Stringham Michael N. Weedon Eleanor Wheeler Andrew R. Wood Teresa Ferreira Robert J. Weyant Ayellet V. Segrè Karol Estrada Liming Liang James Nemesh Ju-Hyun Park Stefan Gustafsson Tuomas O. Kilpeläinen Jian Yang Nabila Bouatia‐Naji Tõnu Esko Mary F. Feitosa Zoltán Kutalik Massimo Mangino Soumya Raychaudhuri André Scherag Albert V. Smith Ryan Welch Wei Zhao Katja K.H. Aben Devin M. Absher Najaf Amin Anna Dixon Eva Fisher Nicole L. Glazer Michael E. Goddard Nancy L. Heard‐Costa Volker Hoesel Jouke‐Jan Hottenga Åsa Johansson Toby Johnson Shamika Ketkar Claudia Lamina Shengxu Li Miriam F. Moffatt Richard H. Myers Narisu Narisu John R. B. Perry Marjolein J. Peters Michael Preuß Samuli Ripatti Fernando Rivadeneira Camilla H. Sandholt Laura J. Scott Nicholas J. Timpson Jonathan P. Tyrer S. van Wingerden Richard M. Watanabe Charles C. White Fredrik Wiklund Cristina Barlassina Daniel I. Chasman Matthew N. Cooper John‐Olov Jansson Robert Lawrence Niina Pellikka Inga Prokopenko Jianxin Shi Elisabeth Thiering Helene Alavere Maria Teresa Sciarrone Alibrandi Peter Almgren Alice M. Arnold Thor Aspelund Larry D. Atwood Beverley Balkau Anthony J. Balmforth Amanda J. Bennett Yoav Ben‐Shlomo Richard N. Bergman Sven Bergmann Heike Biebermann Alexandra I. F. Blakemore Tanja Boes Lori L. Bonnycastle Stefan R. Bornstein Matthew A. Brown Thomas A. Buchanan

10.1038/ng.686 article EN Nature Genetics 2010-10-10

Identifying the genetic variants that increase risk of type 2 diabetes (T2D) in humans has been a formidable challenge. Adopting genome-wide association strategy, we genotyped 1161 Finnish T2D cases and 1174 normal glucose-tolerant (NGT) controls with >315,000 single-nucleotide polymorphisms (SNPs) imputed genotypes for an additional >2 million autosomal SNPs. We carried out analysis these SNPs to identify predispose T2D, compared our results two similar studies, 80 1215 1258 NGT controls....

10.1126/science.1142382 article EN Science 2007-04-27
Josée Dupuis Claudia Langenberg Inga Prokopenko Richa Saxena Nicole Soranzo and 95 more Anne Jackson Eleanor Wheeler Nicole L. Glazer Nabila Bouatia‐Naji Anna L. Gloyn Cecilia M. Lindgren Reedik Mägi Andrew P. Morris Joshua C. Randall Toby Johnson Paul Elliott Denis Rybin Guðmar Þorleifsson Valgerður Steinthórsdóttir Peter Henneman Harald Grallert Abbas Dehghan Jouke‐Jan Hottenga C. Franklin Pau Navarro Kijoung Song Anuj Goel John R. B. Perry Josephine M. Egan Taina K. Lajunen Niels Grarup Thomas Sparsø Alex S. F. Doney Benjamin F. Voight Heather M. Stringham Man Li Stavroula Kanoni Peter Shrader Christine Cavalcanti-Proença Meena Kumari Lu Qi Nicholas J. Timpson Christian Gieger Katja K.H. Aben Ghislain Rocheleau Erik Ingelsson Ping An Jeffrey R. O’Connell Jian’an Luan Amanda Elliott Steven A. McCarroll Felicity Payne Rosa Maria Roccasecca François Pattou Praveen Sethupathy Kristin Ardlie Yavuz Ariyürek Beverley Balkau Philip J. Barter John Beilby Yoav Ben–Shlomo Rafn Benediktsson Amanda J. Bennett Richard N. Bergman Murielle Bochud Eric Boerwinkle Amélie Bonnefond Lori L. Bonnycastle Knut Borch‐Johnsen Yvonne Böttcher Eric J. Brunner Suzannah J. Bumpstead G. Charpentier Yii‐Der Ida Chen Peter S. Chines Robert Clarke Lachlan Coin Matthew N. Cooper Marilyn C. Cornelis Gabe Crawford Laura Crisponi Ian N.M. Day Eco J. C. de Geus Jérôme Delplanque Christian Dina Michael R. Erdos Annette C. Fedson Antje Fischer-Rosinský Nita G. Forouhi Caroline S. Fox Rune R. Frants Maria Grazia Franzosi Pilar Galán Mark O. Goodarzi J. Graessler Christopher J. Groves Scott M. Grundy Rhian Gwilliam Ulf Gyllensten Samy Hadjadj

10.1038/ng.520 article EN Nature Genetics 2010-01-17
Benjamin F. Voight Laura J. Scott Valgerður Steinthórsdóttir Andrew P. Morris Christian Dina and 95 more Ryan Welch Eleftheria Zeggini Cornelia Huth Yurii S. Aulchenko Guðmar Þorleifsson Laura McCulloch Teresa Ferreira Harald Grallert Najaf Amin Guanming Wu Cristen J. Willer Soumya Raychaudhuri Steve McCarroll Claudia Langenberg Oliver Hofmann Josée Dupuis Lu Qi Ayellet V. Segrè Mandy van Hoek Pau Navarro Kristin Ardlie Beverley Balkau Rafn Benediktsson Amanda J. Bennett Roza Blagieva Eric Boerwinkle Lori L. Bonnycastle Kristina Bengtsson Boström Bert Bravenboer Suzannah Bumpstead Noisël P Burtt G. Charpentier Peter S. Chines Marilyn C. Cornelis David Couper Gabe Crawford Alex S. F. Doney Katherine S. Elliott Amanda L. Elliott Michael R. Erdos Caroline S. Fox Christopher S. Franklin Martha Ganser Christian Gieger Niels Grarup Todd J. Green Simon J. Griffin Christopher J. Groves Candace Guiducci Samy Hadjadj Neelam Hassanali Christian Herder Bo Isomaa Anne Jackson Paul R V Johnson Torben Jørgensen Wen H. Kao Norman Klopp Augustine Kong Peter Kraft Johanna Kuusisto Torsten Lauritzen Man Li Aloysius G. Lieverse Cecilia M. Lindgren Valeriya Lyssenko Michel Marre Thomas Meitinger Kristian Midthjell Mario A. Morken Narisu Narisu Peter M. Nilsson Katharine R. Owen Felicity Payne John R. B. Perry Ann-Kristin Petersen Carl G. P. Platou Christine Proença Inga Prokopenko Wolfgang Rathmann Nigel W. Rayner Neil R. Robertson Ghislain Rocheleau Michael Roden Michael Sampson Richa Saxena Beverley M. Shields Peter Shrader Gunnar Sigurðsson Thomas Sparsø Klaus Straßburger Heather M. Stringham Qi Sun Amy J. Swift Barbara Thorand

10.1038/ng.609 article EN Nature Genetics 2010-06-27
Cristen J. Willer Elizabeth K. Speliotes Ruth J. F. Loos Shengxu Li Cecilia M. Lindgren and 95 more Iris M. Heid Sonja I. Berndt Amanda L. Elliott Anne Jackson Claudia Lamina Guillaume Lettre Noha Lim Helen N. Lyon Steven A. McCarroll Konstantinos Papadakis Lu Qi Joshua C. Randall Rosa Maria Roccasecca Serena Sanna Paul Scheet Michael N. Weedon Eleanor Wheeler Jing Hua Zhao Leonie C. Jacobs Inga Prokopenko Nicole Soranzo Toshiko Tanaka Nicholas J. Timpson Peter Almgren Amanda J. Bennett Richard N. Bergman Sheila Bingham Lori L. Bonnycastle Matthew A. Brown Noel L. P. Burtt Peter S. Chines Lachlan Coin Francis S. Collins John Connell Cyrus Cooper George Davey Smith Elaine Dennison Parimal Deodhar Paul Elliott Michael R. Erdos Karol Estrada David M. Evans Lauren Gianniny Christian Gieger Christopher Gillson Candace Guiducci Rachel Hackett David Hadley Alistair S. Hall Aki S. Havulinna Johannes Hebebrand Albert Hofman Bo Isomaa Kevin B. Jacobs Toby Johnson Pekka Jousilahti Z Jovanović Kay‐Tee Khaw Peter Kraft Mikko Kuokkanen Johanna Kuusisto Jaana Laitinen Edward G. Lakatta Jian’an Luan Robert Luben Massimo Mangino Wendy L. McArdle Thomas Meitinger Antonella Mulas Patricia B. Munroe Narisu Narisu Andy Ness Kate Northstone Stephen O’Rahilly Carolin Purmann Matthew G. Rees Martin Ridderstråle Susan M. Ring Fernando Rivadeneira A Ruokonen Manjinder S. Sandhu Jouko Saramies Laura J. Scott Angelo Scuteri Kaisa Silander Matthew Sims Kijoung Song Jonathan Stephens Suzanne Stevens Heather M. Stringham Y. C. Loraine Tung Timo T. Valle Cornelia M. van Duijn Karani S. Vimaleswaran Péter Vollenweider

10.1038/ng.287 article EN Nature Genetics 2008-12-14
Christopher Newton‐Cheh Toby Johnson Vesela Gateva Martin D. Tobin Murielle Bochud and 95 more Lachlan Coin Samer S. Najjar Jing Hua Zhao Simon Heath S. Eyheramendy Konstantinos A. Papadakis Benjamin F. Voight Laura J. Scott Feng Zhang Martin Farrall Toshiko Tanaka Chris Wallace John C. Chambers Kay‐Tee Khaw Peter M. Nilsson Pim van der Harst Silvia Polidoro Diederick E. Grobbee N. Charlotte Onland‐Moret Michiel L. Bots Louise V. Wain Katherine S. Elliott Alexander Teumer Jian’an Luan Gavin Lucas Johanna Kuusisto Paul R. Burton David Hadley Wendy L. McArdle Matthew A. Brown Anna F. Dominiczak Stephen Newhouse Nilesh J. Samani John Webster Eleftheria Zeggini J. Beckmann Sven Bergmann Noha Lim Kijoung Song Péter Vollenweider Gérard Waeber Dawn Waterworth Xin Yuan Leif Groop Marju Orho‐Melander Alessandra Allione Alessandra Di Gregorio Simonetta Guarrera Salvatore Panico Fulvio Ricceri Valeria Romanazzi Carlotta Sacerdote Paolo Vineis Inês Barroso Manjinder S. Sandhu Robert Luben Gabriel Crawford Jari Lahti Markus Perola Michael Boehnke Lori L. Bonnycastle Francis S. Collins Anne Jackson Karen L. Mohlke Heather M. Stringham Timo T. Valle Cristen J. Willer Richard N. Bergman Mario A. Morken Angela Döring Christian Gieger Thomas Illig Thomas Meitinger Elin Org Arne Pfeufer H.‐Erich Wichmann Sekar Kathiresan Jaume Marrugat Christopher J. O’Donnell Stephen M. Schwartz David S. Siscovick Isaac Subirana Nelson B. Freimer Anna-Liisa Hartikainen Mark I. McCarthy Paul F. O’Reilly Leena Peltonen Anneli Pouta Paul E. de Jong Harold Snieder Wiek H. van Gilst Robert Clarke Anuj Goel Anders Hamsten John F. Peden

10.1038/ng.361 article EN Nature Genetics 2009-05-10

Linkage analysis was used to search the genome for chromosomal regions harboring familial Alzheimer's disease genes. Markers on chromosome 14 gave highly significant positive lod scores in early-onset non-Volga German kindreds; a Zmax of 9.15 (theta = 0.01) obtained with marker D14S43 at 14q24.3. One family yielded score 4.89 0.0). When no assumptions were made about age-dependent penetrance, results still (Zmax 5.94, theta 0.0), despite loss power detect linkage under these conditions....

10.1126/science.1411576 article EN Science 1992-10-23
Ron Do Cristen J. Willer Ellen M. Schmidt Sebanti Sengupta Chi Gao and 95 more Gina M. Peloso Stefan Gustafsson Stavroula Kanoni Andrea Ganna Jin Chen Martin L. Buchkovich Samia Mora J. Beckmann Jennifer L. Bragg‐Gresham Hsing‐Yi Chang Ayşe Demirkan Heleen M. den Hertog Louise A. Donnelly Georg Ehret Tõnu Esko Mary F. Feitosa Teresa Ferreira Krista Fischer Pierre Fontanillas Ross M. Fraser Daniel F. Freitag Deepti Gurdasani Kauko Heikkilä Elina Hyppönen Aaron Isaacs Anne Jackson Åsa Johansson Toby Johnson Marika Kaakinen Johannes Kettunen Marcus E. Kleber Xiaohui Li Jian’an Luan Leo‐Pekka Lyytikäinen Patrik K. E. Magnusson Massimo Mangino Evelin Mihailov May E. Montasser Martina Müller‐Nurasyid Ilja M. Nolte Jeffrey R. O’Connell Nicholette D. Palmer Markus Perola Ann-Kristin Petersen Serena Sanna Richa Saxena Susan K. Service Sonia Shah Dmitry Shungin Carlo Sidore Ci Song Rona J. Strawbridge Ida Surakka Toshiko Tanaka Tanya M. Teslovich Guðmar Þorleifsson Evita G. van den Herik Benjamin F. Voight Kelly A. Volcik Lindsay L. Waite Andrew Wong Ying Wu Weihua Zhang Devin Absher Gershim Asiki Inês Barroso Latonya Been Jennifer L. Bolton Lori L. Bonnycastle Paolo Brambilla Mary Susan Burnett Giancarlo Cesana Maria Dimitriou Alex S. F. Doney Angela Döring Paul Elliott Stephen E. Epstein Guðmundur I. Eyjólfsson Bruna Gigante Mark O. Goodarzi Harald Grallert Martha L. Gravito Christopher J. Groves Göran Hallmans Anna-Liisa Hartikainen Caroline Hayward Dena Hernandez Andrew A. Hicks Hilma Hólm Yi-Jen Hung Thomas Illig Michelle R. Jones Pontiano Kaleebu John J.P. Kastelein Kay‐Tee Khaw

10.1038/ng.2795 article EN Nature Genetics 2013-10-06
Ryan L. Collins Harrison Brand Konrad J. Karczewski Xuefang Zhao Jessica Alföldi and 95 more Laurent C. Francioli Amit V. Khera Chelsea Lowther Laura D. Gauthier Harold Wang Nicholas A. Watts Matthew Solomonson Anne O’Donnell‐Luria Alexander Baumann Ruchi Munshi Mark Walker Christopher W. Whelan Yongqing Huang Ted Brookings Ted Sharpe Matthew R. Stone Elise Valkanas Jack Fu Grace Tiao Kristen M. Laricchia Valentín Ruano-Rubio Christine Stevens Namrata Gupta Caroline Cusick Lauren Margolin Jessica Alföldi Irina M. Armean Eric Banks Louis Bergelson Kristian Cibulskis Ryan L. Collins Kristen M. Connolly Miguel Covarrubias Beryl B. Cummings Mark J. Daly Stacey Donnelly Yossi Farjoun Steven Ferriera Laurent C. Francioli Stacey Gabriel Laura D. Gauthier Jeff Gentry Namrata Gupta Thibault Jeandet Diane Kaplan Konrad J. Karczewski Kristen M. Laricchia Christopher Llanwarne Eric Vallabh Minikel Ruchi Munshi Benjamin M. Neale Sam Novod Anne O’Donnell‐Luria Nikelle Petrillo Timothy Poterba David Roazen Valentín Ruano-Rubio Andrea Saltzman Kaitlin E. Samocha Molly Schleicher Cotton Seed Matthew Solomonson José Soto Grace Tiao Kathleen Tibbetts Charlotte Tolonen Christopher Vittal Gordon Wade Arcturus Wang Qingbo Wang James S. Ware Nicholas A. Watts Ben Weisburd Nicola Whiffin Carlos A. Aguilar‐Salinas Tariq Ahmad Christine M. Albert Diego Ardissino Gil Atzmon J. A. Barnard Laurent Beaugerie Emelia J. Benjamin Michael Boehnke Lori L. Bonnycastle Erwin P. Böttinger Donald W. Bowden Matthew J. Bown John C. Chambers Juliana C.N. Chan Daniel I. Chasman Judy H. Cho Mina K. Chung Bruce M. Cohen Adolfo Correa Dana Dabelea

Structural variants (SVs) rearrange large segments of DNA

10.1038/s41586-020-2287-8 article EN cc-by Nature 2020-05-27
Inga Prokopenko Claudia Langenberg José C. Florez Richa Saxena Nicole Soranzo and 95 more Guðmar Þorleifsson Ruth J. F. Loos Man Li Anne Jackson Yurii S. Aulchenko Simon Potter Michael R. Erdos Serena Sanna Jouke‐Jan Hottenga Eleanor Wheeler Marika Kaakinen Valeriya Lyssenko Wei‐Min Chen Kourosh R. Ahmadi J. Beckmann Richard N. Bergman Murielle Bochud Lori L. Bonnycastle Thomas A. Buchanan Antonio Cao Alessandra Cervino Lachlan Coin Francis S. Collins Laura Crisponi Eco J. C. de Geus Abbas Dehghan Panos Deloukas Alex S. F. Doney Paul Elliott Nelson Freimer Vesela Gateva Christian Herder Albert Hofman Thomas E. Hughes Sarah Hunt Thomas Illig Michael Inouye Bo Isomaa Toby Johnson Augustine Kong Maria Krestyaninova Johanna Kuusisto Markku Laakso Noha Lim Ulf Lindblad Cecilia M. Lindgren Owen T McCann Karen L. Mohlke Andrew D. Morris Silvia Naitza Marco Orrú Nicholette D. Palmer Anneli Pouta Joshua C. Randall Wolfgang Rathmann Jouko Saramies Paul Scheet Laura J. Scott Angelo Scuteri Stephen J. Sharp Eric J.G. Sijbrands Johannes H. Smit Kijoung Song Valgerður Steinthórsdóttir Heather M. Stringham Jaakko Tuomilehto Jaakko Tuomilehto André G. Uitterlinden Benjamin F. Voight Dawn Waterworth H‐Erich Wichmann Gonneke Willemsen Jacqueline C.M. Witteman Xin Yuan Wei Zhao Eleftheria Zeggini David Schlessinger Manjinder S. Sandhu Dorret I. Boomsma Manuela Uda Tim D. Spector Brenda W.J.H. Penninx David Altshuler Péter Vollenweider Marjo‐Riitta Järvelin Edward G. Lakatta Gérard Waeber Caroline S. Fox Leena Peltonen Leif Groop Vincent Mooser L. Adrienne Cupples Unnur Þorsteinsdóttir Michael Boehnke Inês Barroso

10.1038/ng.290 article EN Nature Genetics 2008-12-07
Robert A. Scott Laura J. Scott Reedik Mägi Letizia Marullo Kyle J. Gaulton and 95 more Marika Kaakinen Natalia Pervjakova Tune H. Pers Andrew D. Johnson John D. Eicher Anne Jackson Teresa Ferreira Yeji Lee Clement Ma Valgerður Steinthórsdóttir Guðmar Þorleifsson Lu Qi Natalie R. van Zuydam Anubha Mahajan Han Chen Peter Almgren Benjamin F. Voight Harald Grallert Martina Müller‐Nurasyid Janina S. Ried Nigel W. Rayner Neil Robertson Lennart C. Karssen Jin‐Moo Lee Sara M. Willems Christian Fuchsberger Phoenix Kwan Tanya M. Teslovich Pritam Chanda Man Li Yingchang Lu Christian Dina Dorothée Thuillier Loïc Yengo Longda Jiang Thomas Sparsø Hans A. Kestler Himanshu Chheda Lewin Eisele Stefan Gustafsson Mattias Frånberg Rona J. Strawbridge Rafn Benediktsson Ástráður B. Hreiðarsson Augustine Kong Gunnar Sigurðsson Nicola D. Kerrison Jian’an Luan Liming Liang Thomas Meitinger Michael Roden Barbara Thorand Tõnu Esko Evelin Mihailov Caroline S. Fox Yongmei Liu Denis Rybin Bo Isomaa Valeriya Lyssenko Jaakko Tuomilehto David Couper James S. Pankow Niels Grarup Henri Theil Marit E. Jørgensen Torben Jørgensen Allan Linneberg Marilyn C. Cornelis Rob M. van Dam Sarah Hunt Peter Kraft Qi Sun Sarah Edkins Katharine R. Owen John R. B. Perry Andrew R. Wood Eleftheria Zeggini Juan Tajes-Fernandes Gonçalo R. Abecasis Lori L. Bonnycastle Peter S. Chines Heather M. Stringham Heikki A. Koistinen Leena Kinnunen Bengt Sennblad Hae‐Won Uh Markus M. Nöthen Sonali Pechlivanis Damiano Baldassarre Karl Gertow Steve E. Humphries Elena Tremoli Norman Klopp Julia Meyer Gerald Steinbach

To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects European ancestry after imputation using 1000 Genomes multiethnic reference panel. Promising signals were followed up in additional sets (of 14,545 or 7,397 38,994 71,604 subjects). We identified 13 novel T2D-associated loci (P < 5 × 10-8), including variants near GLP2R, GIP, HLA-DQA1...

10.2337/db16-1253 article EN Diabetes 2017-05-31
Richa Saxena Marie‐France Hivert Claudia Langenberg Toshiko Tanaka James S. Pankow and 95 more Péter Vollenweider Valeriya Lyssenko Nabila Bouatia‐Naji Josée Dupuis Anne Jackson W.H. Linda Kao Man Li Nicole L. Glazer Man Li Jian’an Luan Heather M. Stringham Inga Prokopenko Toby Johnson Niels Grarup Trine Welløv Boesgaard Cécile Lecœur Peter Shrader Jeffrey R. O’Connell Erik Ingelsson David Couper Kenneth Rice Kijoung Song Camilla Andreasen Christian Dina Anna Köttgen Olivier Le Bacquer François Pattou Jalal Taneera Valgerður Steinthórsdóttir Denis Rybin Kristin Ardlie Michael Sampson Lu Qi Mandy van Hoek Michael N. Weedon Yurii S. Aulchenko Benjamin F. Voight Harald Grallert Beverley Balkau Richard N. Bergman Suzette J. Bielinski Amélie Bonnefond Lori L. Bonnycastle Knut Borch‐Johnsen Yvonne Böttcher Eric J. Brunner Thomas A. Buchanan Suzannah J. Bumpstead Christine Cavalcanti-Proença G. Charpentier Yii-Der Ida Chen Peter S. Chines Francis S. Collins Marilyn C. Cornelis Gabriel Crawford Jérôme Delplanque Alex S. F. Doney Josephine M. Egan Michael R. Erdos Mathieu Firmann Nita G. Forouhi Caroline S. Fox Mark O. Goodarzi J. Graessler Aroon D. Hingorani Bo Isomaa Torben Jørgensen Mika Kivimäki Péter Kovács Knut Krohn Meena Kumari Torsten Lauritzen Claire Lévy‐Marchal Vladimir Mayor Jarred B. McAteer Stephen Eyre Braxton D. Mitchell Karen L. Mohlke Mario A. Morken Narisu Narisu Nicholette D. Palmer Ruth Pakyz Laura Pascoe Felicity Payne Daniel S. Pearson Wolfgang Rathmann Annelli Sandbæk Avan Aihie Sayer Laura J. Scott Stephen J. Sharp Eric J.G. Sijbrands Andrew B. Singleton David S. Siscovick Nicholas L. Smith Thomas Sparsø

10.1038/ng.521 article EN Nature Genetics 2010-01-17
Sonja I. Berndt Stefan Gustafsson Reedik Mägi Andrea Ganna Eleanor Wheeler and 95 more Mary F. Feitosa Anne E. Justice Keri L. Monda Damien C. Croteau‐Chonka Felix R. Day Tõnu Esko Tove Fall Teresa Ferreira Davide Gentilini Anne Jackson Jian’an Luan Joshua C. Randall Sailaja Vedantam Cristen J. Willer Thomas W. Winkler Andrew R. Wood Tsegaselassie Workalemahu Yi‐Juan Hu Sang Lee Liming Liang Dan-Yu Lin Josine L. Min Benjamin M. Neale Guðmar Þorleifsson Jian Yang Eva Albrecht Najaf Amin Jennifer L. Bragg‐Gresham Gemma Cadby Martin den Heijer Niina Eklund Krista Fischer Anuj Goel Jouke‐Jan Hottenga Jennifer E. Huffman Ivonne Jarick Åsa Johansson Toby Johnson Stavroula Kanoni Marcus E. Kleber Inke R. König Kati Kristiansson Zoltán Kutalik Claudia Lamina Cécile Lecœur Li Guo Massimo Mangino Wendy L. McArdle Carolina Medina‐Gómez Martina Müller‐Nurasyid Julius S. Ngwa Ilja M. Nolte Lavinia Paternoster Sonali Pechlivanis Markus Perola Marjolein J. Peters Michael Preuß Lynda M. Rose Jianxin Shi Dmitry Shungin Albert V. Smith Rona J. Strawbridge Ida Surakka Alexander Teumer Mieke D. Trip Jonathan P. Tyrer Jana V. van Vliet‐Ostaptchouk Liesbeth Vandenput Lindsay L. Waite Wei Zhao Devin Absher Folkert W. Asselbergs Mustafa Atalay Antony Attwood Anthony J. Balmforth Hanneke Basart John Beilby Lori L. Bonnycastle Paolo Brambilla Marcel Bruinenberg Harry Campbell Daniel I. Chasman Peter S. Chines Francis S. Collins John Connell William Cookson Ulf dé Fairé Femmie de Vegt Mariano Dei Maria Dimitriou Sarah Edkins Karol Estrada David M. Evans Martin Farrall Maurizio Ferrario

10.1038/ng.2606 article EN Nature Genetics 2013-04-07
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