Literature DB >> 29511284

The importance of cohort studies in the post-GWAS era.

Cisca Wijmenga1,2, Alexandra Zhernakova3.   

Abstract

The past decade has seen enormous success of wide-scale genetic studies in identifying genetic variants that modify individuals' predisposition to common diseases. However, the interpretation and functional understanding of these variants lag far behind. In this Perspective, we discuss opportunities for using large-scale cohort studies to investigate the downstream molecular effects of SNPs at different 'omics' data levels. We point to the pivotal role of population cohorts in establishing causality and advancing drug discovery. In particular, we focus on the breadth-versus-depth concepts of population studies, on data harmonization, and on the challenges, ethical aspects and future perspectives of cohort studies.

Mesh:

Year:  2018        PMID: 29511284     DOI: 10.1038/s41588-018-0066-3

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  60 in total

1.  Complement factor H polymorphism in age-related macular degeneration.

Authors:  Robert J Klein; Caroline Zeiss; Emily Y Chew; Jen-Yue Tsai; Richard S Sackler; Chad Haynes; Alice K Henning; John Paul SanGiovanni; Shrikant M Mane; Susan T Mayne; Michael B Bracken; Frederick L Ferris; Jurg Ott; Colin Barnstable; Josephine Hoh
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

2.  Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction.

Authors:  Kouichi Ozaki; Yozo Ohnishi; Aritoshi Iida; Akihiko Sekine; Ryo Yamada; Tatsuhiko Tsunoda; Hiroshi Sato; Hideyuki Sato; Masatsugu Hori; Yusuke Nakamura; Toshihiro Tanaka
Journal:  Nat Genet       Date:  2002-11-11       Impact factor: 38.330

Review 3.  Promise and pitfalls of the Immunochip.

Authors:  Adrian Cortes; Matthew A Brown
Journal:  Arthritis Res Ther       Date:  2011-02-01       Impact factor: 5.156

4.  Genetics of rheumatoid arthritis contributes to biology and drug discovery.

Authors:  Yukinori Okada; Di Wu; Gosia Trynka; Towfique Raj; Chikashi Terao; Katsunori Ikari; Yuta Kochi; Koichiro Ohmura; Akari Suzuki; Shinji Yoshida; Robert R Graham; Arun Manoharan; Ward Ortmann; Tushar Bhangale; Joshua C Denny; Robert J Carroll; Anne E Eyler; Jeffrey D Greenberg; Joel M Kremer; Dimitrios A Pappas; Lei Jiang; Jian Yin; Lingying Ye; Ding-Feng Su; Jian Yang; Gang Xie; Ed Keystone; Harm-Jan Westra; Tõnu Esko; Andres Metspalu; Xuezhong Zhou; Namrata Gupta; Daniel Mirel; Eli A Stahl; Dorothée Diogo; Jing Cui; Katherine Liao; Michael H Guo; Keiko Myouzen; Takahisa Kawaguchi; Marieke J H Coenen; Piet L C M van Riel; Mart A F J van de Laar; Henk-Jan Guchelaar; Tom W J Huizinga; Philippe Dieudé; Xavier Mariette; S Louis Bridges; Alexandra Zhernakova; Rene E M Toes; Paul P Tak; Corinne Miceli-Richard; So-Young Bang; Hye-Soon Lee; Javier Martin; Miguel A Gonzalez-Gay; Luis Rodriguez-Rodriguez; Solbritt Rantapää-Dahlqvist; Lisbeth Arlestig; Hyon K Choi; Yoichiro Kamatani; Pilar Galan; Mark Lathrop; Steve Eyre; John Bowes; Anne Barton; Niek de Vries; Larry W Moreland; Lindsey A Criswell; Elizabeth W Karlson; Atsuo Taniguchi; Ryo Yamada; Michiaki Kubo; Jun S Liu; Sang-Cheol Bae; Jane Worthington; Leonid Padyukov; Lars Klareskog; Peter K Gregersen; Soumya Raychaudhuri; Barbara E Stranger; Philip L De Jager; Lude Franke; Peter M Visscher; Matthew A Brown; Hisashi Yamanaka; Tsuneyo Mimori; Atsushi Takahashi; Huji Xu; Timothy W Behrens; Katherine A Siminovitch; Shigeki Momohara; Fumihiko Matsuda; Kazuhiko Yamamoto; Robert M Plenge
Journal:  Nature       Date:  2013-12-25       Impact factor: 49.962

5.  The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.

Authors:  Danielle Welter; Jacqueline MacArthur; Joannella Morales; Tony Burdett; Peggy Hall; Heather Junkins; Alan Klemm; Paul Flicek; Teri Manolio; Lucia Hindorff; Helen Parkinson
Journal:  Nucleic Acids Res       Date:  2013-12-06       Impact factor: 16.971

6.  A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:  Lars G Fritsche; Wilmar Igl; Jessica N Cooke Bailey; Felix Grassmann; Sebanti Sengupta; Jennifer L Bragg-Gresham; Kathryn P Burdon; Scott J Hebbring; Cindy Wen; Mathias Gorski; Ivana K Kim; David Cho; Donald Zack; Eric Souied; Hendrik P N Scholl; Elisa Bala; Kristine E Lee; David J Hunter; Rebecca J Sardell; Paul Mitchell; Joanna E Merriam; Valentina Cipriani; Joshua D Hoffman; Tina Schick; Yara T E Lechanteur; Robyn H Guymer; Matthew P Johnson; Yingda Jiang; Chloe M Stanton; Gabriëlle H S Buitendijk; Xiaowei Zhan; Alan M Kwong; Alexis Boleda; Matthew Brooks; Linn Gieser; Rinki Ratnapriya; Kari E Branham; Johanna R Foerster; John R Heckenlively; Mohammad I Othman; Brendan J Vote; Helena Hai Liang; Emmanuelle Souzeau; Ian L McAllister; Timothy Isaacs; Janette Hall; Stewart Lake; David A Mackey; Ian J Constable; Jamie E Craig; Terrie E Kitchner; Zhenglin Yang; Zhiguang Su; Hongrong Luo; Daniel Chen; Hong Ouyang; Ken Flagg; Danni Lin; Guanping Mao; Henry Ferreyra; Klaus Stark; Claudia N von Strachwitz; Armin Wolf; Caroline Brandl; Guenther Rudolph; Matthias Olden; Margaux A Morrison; Denise J Morgan; Matthew Schu; Jeeyun Ahn; Giuliana Silvestri; Evangelia E Tsironi; Kyu Hyung Park; Lindsay A Farrer; Anton Orlin; Alexander Brucker; Mingyao Li; Christine A Curcio; Saddek Mohand-Saïd; José-Alain Sahel; Isabelle Audo; Mustapha Benchaboune; Angela J Cree; Christina A Rennie; Srinivas V Goverdhan; Michelle Grunin; Shira Hagbi-Levi; Peter Campochiaro; Nicholas Katsanis; Frank G Holz; Frédéric Blond; Hélène Blanché; Jean-François Deleuze; Robert P Igo; Barbara Truitt; Neal S Peachey; Stacy M Meuer; Chelsea E Myers; Emily L Moore; Ronald Klein; Michael A Hauser; Eric A Postel; Monique D Courtenay; Stephen G Schwartz; Jaclyn L Kovach; William K Scott; Gerald Liew; Ava G Tan; Bamini Gopinath; John C Merriam; R Theodore Smith; Jane C Khan; Humma Shahid; Anthony T Moore; J Allie McGrath; Reneé Laux; Milam A Brantley; Anita Agarwal; Lebriz Ersoy; Albert Caramoy; Thomas Langmann; Nicole T M Saksens; Eiko K de Jong; Carel B Hoyng; Melinda S Cain; Andrea J Richardson; Tammy M Martin; John Blangero; Daniel E Weeks; Bal Dhillon; Cornelia M van Duijn; Kimberly F Doheny; Jane Romm; Caroline C W Klaver; Caroline Hayward; Michael B Gorin; Michael L Klein; Paul N Baird; Anneke I den Hollander; Sascha Fauser; John R W Yates; Rando Allikmets; Jie Jin Wang; Debra A Schaumberg; Barbara E K Klein; Stephanie A Hagstrom; Itay Chowers; Andrew J Lotery; Thierry Léveillard; Kang Zhang; Murray H Brilliant; Alex W Hewitt; Anand Swaroop; Emily Y Chew; Margaret A Pericak-Vance; Margaret DeAngelis; Dwight Stambolian; Jonathan L Haines; Sudha K Iyengar; Bernhard H F Weber; Gonçalo R Abecasis; Iris M Heid
Journal:  Nat Genet       Date:  2015-12-21       Impact factor: 38.330

7.  The impact of structural variation on human gene expression.

Authors:  Colby Chiang; Alexandra J Scott; Joe R Davis; Emily K Tsang; Xin Li; Yungil Kim; Tarik Hadzic; Farhan N Damani; Liron Ganel; Stephen B Montgomery; Alexis Battle; Donald F Conrad; Ira M Hall
Journal:  Nat Genet       Date:  2017-04-03       Impact factor: 38.330

8.  Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Authors:  Luke Jostins; Stephan Ripke; Rinse K Weersma; Richard H Duerr; Dermot P McGovern; Ken Y Hui; James C Lee; L Philip Schumm; Yashoda Sharma; Carl A Anderson; Jonah Essers; Mitja Mitrovic; Kaida Ning; Isabelle Cleynen; Emilie Theatre; Sarah L Spain; Soumya Raychaudhuri; Philippe Goyette; Zhi Wei; Clara Abraham; Jean-Paul Achkar; Tariq Ahmad; Leila Amininejad; Ashwin N Ananthakrishnan; Vibeke Andersen; Jane M Andrews; Leonard Baidoo; Tobias Balschun; Peter A Bampton; Alain Bitton; Gabrielle Boucher; Stephan Brand; Carsten Büning; Ariella Cohain; Sven Cichon; Mauro D'Amato; Dirk De Jong; Kathy L Devaney; Marla Dubinsky; Cathryn Edwards; David Ellinghaus; Lynnette R Ferguson; Denis Franchimont; Karin Fransen; Richard Gearry; Michel Georges; Christian Gieger; Jürgen Glas; Talin Haritunians; Ailsa Hart; Chris Hawkey; Matija Hedl; Xinli Hu; Tom H Karlsen; Limas Kupcinskas; Subra Kugathasan; Anna Latiano; Debby Laukens; Ian C Lawrance; Charlie W Lees; Edouard Louis; Gillian Mahy; John Mansfield; Angharad R Morgan; Craig Mowat; William Newman; Orazio Palmieri; Cyriel Y Ponsioen; Uros Potocnik; Natalie J Prescott; Miguel Regueiro; Jerome I Rotter; Richard K Russell; Jeremy D Sanderson; Miquel Sans; Jack Satsangi; Stefan Schreiber; Lisa A Simms; Jurgita Sventoraityte; Stephan R Targan; Kent D Taylor; Mark Tremelling; Hein W Verspaget; Martine De Vos; Cisca Wijmenga; David C Wilson; Juliane Winkelmann; Ramnik J Xavier; Sebastian Zeissig; Bin Zhang; Clarence K Zhang; Hongyu Zhao; Mark S Silverberg; Vito Annese; Hakon Hakonarson; Steven R Brant; Graham Radford-Smith; Christopher G Mathew; John D Rioux; Eric E Schadt; Mark J Daly; Andre Franke; Miles Parkes; Severine Vermeire; Jeffrey C Barrett; Judy H Cho
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

9.  Discovery and refinement of loci associated with lipid levels.

Authors:  Cristen J Willer; Ellen M Schmidt; Sebanti Sengupta; Michael Boehnke; Panos Deloukas; Sekar Kathiresan; Karen L Mohlke; Erik Ingelsson; Gonçalo R Abecasis; Gina M Peloso; Stefan Gustafsson; Stavroula Kanoni; Andrea Ganna; Jin Chen; Martin L Buchkovich; Samia Mora; Jacques S Beckmann; Jennifer L Bragg-Gresham; Hsing-Yi Chang; Ayşe Demirkan; Heleen M Den Hertog; Ron Do; Louise A Donnelly; Georg B 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 U 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; Gudmar Thorleifsson; 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 F Been; Jennifer L Bolton; Lori L Bonnycastle; Paolo Brambilla; Mary S Burnett; Giancarlo Cesana; Maria Dimitriou; Alex S F Doney; Angela Döring; Paul Elliott; Stephen E Epstein; Gudmundur Ingi Eyjolfsson; 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 Holm; Yi-Jen Hung; Thomas Illig; Michelle R Jones; Pontiano Kaleebu; John J P Kastelein; Kay-Tee Khaw; Eric Kim; Norman Klopp; Pirjo Komulainen; Meena Kumari; Claudia Langenberg; Terho Lehtimäki; Shih-Yi Lin; Jaana Lindström; Ruth J F Loos; François Mach; Wendy L McArdle; Christa Meisinger; Braxton D Mitchell; Gabrielle Müller; Ramaiah Nagaraja; Narisu Narisu; Tuomo V M Nieminen; Rebecca N Nsubuga; Isleifur Olafsson; Ken K Ong; Aarno Palotie; Theodore Papamarkou; Cristina Pomilla; Anneli Pouta; Daniel J Rader; Muredach P Reilly; Paul M Ridker; Fernando Rivadeneira; Igor Rudan; Aimo Ruokonen; Nilesh Samani; Hubert Scharnagl; Janet Seeley; Kaisa Silander; Alena Stančáková; Kathleen Stirrups; Amy J Swift; Laurence Tiret; Andre G Uitterlinden; L Joost van Pelt; Sailaja Vedantam; Nicholas Wainwright; Cisca Wijmenga; Sarah H Wild; Gonneke Willemsen; Tom Wilsgaard; James F Wilson; Elizabeth H Young; Jing Hua Zhao; Linda S Adair; Dominique Arveiler; Themistocles L Assimes; Stefania Bandinelli; Franklyn Bennett; Murielle Bochud; Bernhard O Boehm; Dorret I Boomsma; Ingrid B Borecki; Stefan R Bornstein; Pascal Bovet; Michel Burnier; Harry Campbell; Aravinda Chakravarti; John C Chambers; Yii-Der Ida Chen; Francis S Collins; Richard S Cooper; John Danesh; George Dedoussis; Ulf de Faire; Alan B Feranil; Jean Ferrières; Luigi Ferrucci; Nelson B Freimer; Christian Gieger; Leif C Groop; Vilmundur Gudnason; Ulf Gyllensten; Anders Hamsten; Tamara B Harris; Aroon Hingorani; Joel N Hirschhorn; Albert Hofman; G Kees Hovingh; Chao Agnes Hsiung; Steve E Humphries; Steven C Hunt; Kristian Hveem; Carlos Iribarren; Marjo-Riitta Järvelin; Antti Jula; Mika Kähönen; Jaakko Kaprio; Antero Kesäniemi; Mika Kivimaki; Jaspal S Kooner; Peter J Koudstaal; Ronald M Krauss; Diana Kuh; Johanna Kuusisto; Kirsten O Kyvik; Markku Laakso; Timo A Lakka; Lars Lind; Cecilia M Lindgren; Nicholas G Martin; Winfried März; Mark I McCarthy; Colin A McKenzie; Pierre Meneton; Andres Metspalu; Leena Moilanen; Andrew D Morris; Patricia B Munroe; Inger Njølstad; Nancy L Pedersen; Chris Power; Peter P Pramstaller; Jackie F Price; Bruce M Psaty; Thomas Quertermous; Rainer Rauramaa; Danish Saleheen; Veikko Salomaa; Dharambir K Sanghera; Jouko Saramies; Peter E H Schwarz; Wayne H-H Sheu; Alan R Shuldiner; Agneta Siegbahn; Tim D Spector; Kari Stefansson; David P Strachan; Bamidele O Tayo; Elena Tremoli; Jaakko Tuomilehto; Matti Uusitupa; Cornelia M van Duijn; Peter Vollenweider; Lars Wallentin; Nicholas J Wareham; John B Whitfield; Bruce H R Wolffenbuttel; Jose M Ordovas; Eric Boerwinkle; Colin N A Palmer; Unnur Thorsteinsdottir; Daniel I Chasman; Jerome I Rotter; Paul W Franks; Samuli Ripatti; L Adrienne Cupples; Manjinder S Sandhu; Stephen S Rich
Journal:  Nat Genet       Date:  2013-10-06       Impact factor: 38.330

10.  Detection and interpretation of shared genetic influences on 42 human traits.

Authors:  Joseph K Pickrell; Tomaz Berisa; Jimmy Z Liu; Laure Ségurel; Joyce Y Tung; David A Hinds
Journal:  Nat Genet       Date:  2016-05-16       Impact factor: 38.330

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  17 in total

1.  A primer in genomics for social and behavioral investigators.

Authors:  Erin Turbitt; Barbara B Biesecker
Journal:  Transl Behav Med       Date:  2020-05-20       Impact factor: 3.046

Review 2.  Peripheral neuropathy in children and adolescents treated for cancer.

Authors:  Kari L Bjornard; Laura S Gilchrist; Hiroto Inaba; Barthelemy Diouf; Marilyn J Hockenberry; Nina S Kadan-Lottick; Daniel C Bowers; M Eileen Dolan; Nicole J Ullrich; William E Evans; Kirsten K Ness
Journal:  Lancet Child Adolesc Health       Date:  2018-09-01

3.  The Human Immunopeptidome Project: A Roadmap to Predict and Treat Immune Diseases.

Authors:  Juan Antonio Vizcaíno; Peter Kubiniok; Kevin A Kovalchik; Qing Ma; Jérôme D Duquette; Ian Mongrain; Eric W Deutsch; Bjoern Peters; Alessandro Sette; Isabelle Sirois; Etienne Caron
Journal:  Mol Cell Proteomics       Date:  2019-11-19       Impact factor: 5.911

4.  Klotho Gene in Human Salt-Sensitive Hypertension.

Authors:  Lorena Citterio; Simona Delli Carpini; Sara Lupoli; Elena Brioni; Marco Simonini; Simone Fontana; Laura Zagato; Elisabetta Messaggio; Cristina Barlassina; Daniele Cusi; Paolo Manunta; Chiara Lanzani
Journal:  Clin J Am Soc Nephrol       Date:  2020-01-28       Impact factor: 8.237

Review 5.  Genetics of irritable bowel syndrome: shifting gear via biobank-scale studies.

Authors:  Michael Camilleri; Alexandra Zhernakova; Isotta Bozzarelli; Mauro D'Amato
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2022-08-10       Impact factor: 73.082

6.  Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolome.

Authors:  Lianmin Chen; Daria V Zhernakova; Alexander Kurilshikov; Sergio Andreu-Sánchez; Daoming Wang; Hannah E Augustijn; Arnau Vich Vila; Rinse K Weersma; Marnix H Medema; Mihai G Netea; Folkert Kuipers; Cisca Wijmenga; Alexandra Zhernakova; Jingyuan Fu
Journal:  Nat Med       Date:  2022-10-10       Impact factor: 87.241

7.  A scientometric review of genome-wide association studies.

Authors:  Melinda C Mills; Charles Rahal
Journal:  Commun Biol       Date:  2019-01-07

8.  Scientific Contributions of Population-Based Studies to Cardiovascular Epidemiology in the GWAS Era.

Authors:  Wolfgang Lieb; Ramachandran S Vasan
Journal:  Front Cardiovasc Med       Date:  2018-06-07

9.  Genomic and environmental risk factors for cardiometabolic diseases in Africa: methods used for Phase 1 of the AWI-Gen population cross-sectional study.

Authors:  Stuart A Ali; Cassandra Soo; Godfred Agongo; Marianne Alberts; Lucas Amenga-Etego; Romuald P Boua; Ananyo Choudhury; Nigel J Crowther; Cornelius Depuur; F Xavier Gómez-Olivé; Issa Guiraud; Tilahun N Haregu; Scott Hazelhurst; Kathleen Kahn; Christopher Khayeka-Wandabwa; Catherine Kyobutungi; Zané Lombard; Felistas Mashinya; Lisa Micklesfield; Shukri F Mohamed; Freedom Mukomana; Seydou Nakanabo-Diallo; Hamtandi M Natama; Nicholas Ngomi; Engelbert A Nonterah; Shane A Norris; Abraham R Oduro; Athanase M Somé; Hermann Sorgho; Paulina Tindana; Halidou Tinto; Stephen Tollman; Rhian Twine; Alisha Wade; Osman Sankoh; Michèle Ramsay
Journal:  Glob Health Action       Date:  2018       Impact factor: 2.640

10.  Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective.

Authors:  Shinichi Kuriyama; Hirohito Metoki; Masahiro Kikuya; Taku Obara; Mami Ishikuro; Chizuru Yamanaka; Masato Nagai; Hiroko Matsubara; Tomoko Kobayashi; Junichi Sugawara; Gen Tamiya; Atsushi Hozawa; Naoki Nakaya; Naho Tsuchiya; Tomohiro Nakamura; Akira Narita; Mana Kogure; Takumi Hirata; Ichiro Tsuji; Fuji Nagami; Nobuo Fuse; Tomohiko Arai; Yoshio Kawaguchi; Shinichi Higuchi; Masaki Sakaida; Yoichi Suzuki; Noriko Osumi; Keiko Nakayama; Kiyoshi Ito; Shinichi Egawa; Koichi Chida; Eiichi Kodama; Hideyasu Kiyomoto; Tadashi Ishii; Akito Tsuboi; Hiroaki Tomita; Yasuyuki Taki; Hiroshi Kawame; Kichiya Suzuki; Naoto Ishii; Soichi Ogishima; Satoshi Mizuno; Takako Takai-Igarashi; Naoko Minegishi; Jun Yasuda; Kazuhiko Igarashi; Ritsuko Shimizu; Masao Nagasaki; Osamu Tanabe; Seizo Koshiba; Hiroaki Hashizume; Hozumi Motohashi; Teiji Tominaga; Sadayoshi Ito; Kozo Tanno; Kiyomi Sakata; Atsushi Shimizu; Jiro Hitomi; Makoto Sasaki; Kengo Kinoshita; Hiroshi Tanaka; Tadao Kobayashi; Shigeo Kure; Nobuo Yaegashi; Masayuki Yamamoto
Journal:  Int J Epidemiol       Date:  2020-02-01       Impact factor: 7.196

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