Literature DB >> 22243964

Five years of GWAS discovery.

Peter M Visscher1, Matthew A Brown, Mark I McCarthy, Jian Yang.   

Abstract

The past five years have seen many scientific and biological discoveries made through the experimental design of genome-wide association studies (GWASs). These studies were aimed at detecting variants at genomic loci that are associated with complex traits in the population and, in particular, at detecting associations between common single-nucleotide polymorphisms (SNPs) and common diseases such as heart disease, diabetes, auto-immune diseases, and psychiatric disorders. We start by giving a number of quotes from scientists and journalists about perceived problems with GWASs. We will then briefly give the history of GWASs and focus on the discoveries made through this experimental design, what those discoveries tell us and do not tell us about the genetics and biology of complex traits, and what immediate utility has come out of these studies. Rather than giving an exhaustive review of all reported findings for all diseases and other complex traits, we focus on the results for auto-immune diseases and metabolic diseases. We return to the perceived failure or disappointment about GWASs in the concluding section.
Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2012        PMID: 22243964      PMCID: PMC3257326          DOI: 10.1016/j.ajhg.2011.11.029

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  122 in total

1.  A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.

Authors:  Toshimasa Yamauchi; Kazuo Hara; Shiro Maeda; Kazuki Yasuda; Atsushi Takahashi; Momoko Horikoshi; Masahiro Nakamura; Hayato Fujita; Niels Grarup; Stephane Cauchi; Daniel P K Ng; Ronald C W Ma; Tatsuhiko Tsunoda; Michiaki Kubo; Hirotaka Watada; Hiroshi Maegawa; Miki Okada-Iwabu; Masato Iwabu; Nobuhiro Shojima; Hyoung Doo Shin; Gitte Andersen; Daniel R Witte; Torben Jørgensen; Torsten Lauritzen; Annelli Sandbæk; Torben Hansen; Toshihiko Ohshige; Shintaro Omori; Ikuo Saito; Kohei Kaku; Hiroshi Hirose; Wing-Yee So; Delphine Beury; Juliana C N Chan; Kyong Soo Park; E Shyong Tai; Chikako Ito; Yasushi Tanaka; Atsunori Kashiwagi; Ryuzo Kawamori; Masato Kasuga; Philippe Froguel; Oluf Pedersen; Naoyuki Kamatani; Yusuke Nakamura; Takashi Kadowaki
Journal:  Nat Genet       Date:  2010-09-05       Impact factor: 38.330

Review 2.  Twin studies and the heritability of MS: a conclusion.

Authors:  C H Hawkes; A J Macgregor
Journal:  Mult Scler       Date:  2009-06       Impact factor: 6.312

3.  Polymorphic regions affecting human height also control stature in cattle.

Authors:  Jennie E Pryce; Ben J Hayes; Sunduimijid Bolormaa; Michael E Goddard
Journal:  Genetics       Date:  2011-01-06       Impact factor: 4.562

4.  Heritability of type II (non-insulin-dependent) diabetes mellitus and abnormal glucose tolerance--a population-based twin study.

Authors:  P Poulsen; K O Kyvik; A Vaag; H Beck-Nielsen
Journal:  Diabetologia       Date:  1999-02       Impact factor: 10.122

5.  Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.

Authors:  Jaspal S Kooner; Danish Saleheen; Xueling Sim; Joban Sehmi; Weihua Zhang; Philippe Frossard; Latonya F Been; Kee-Seng Chia; Antigone S Dimas; Neelam Hassanali; Tazeen Jafar; Jeremy B M Jowett; Xinzhong Li; Venkatesan Radha; Simon D Rees; Fumihiko Takeuchi; Robin Young; Tin Aung; Abdul Basit; Manickam Chidambaram; Debashish Das; Elin Grundberg; Asa K Hedman; Zafar I Hydrie; Muhammed Islam; Chiea-Chuen Khor; Sudhir Kowlessur; Malene M Kristensen; Samuel Liju; Wei-Yen Lim; David R Matthews; Jianjun Liu; Andrew P Morris; Alexandra C Nica; Janani M Pinidiyapathirage; Inga Prokopenko; Asif Rasheed; Maria Samuel; Nabi Shah; A Samad Shera; Kerrin S Small; Chen Suo; Ananda R Wickremasinghe; Tien Yin Wong; Mingyu Yang; Fan Zhang; Goncalo R Abecasis; Anthony H Barnett; Mark Caulfield; Panos Deloukas; Timothy M Frayling; Philippe Froguel; Norihiro Kato; Prasad Katulanda; M Ann Kelly; Junbin Liang; Viswanathan Mohan; Dharambir K Sanghera; James Scott; Mark Seielstad; Paul Z Zimmet; Paul Elliott; Yik Ying Teo; Mark I McCarthy; John Danesh; E Shyong Tai; John C Chambers
Journal:  Nat Genet       Date:  2011-08-28       Impact factor: 38.330

6.  A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.

Authors:  G Thanabalasingham; N Shah; M Vaxillaire; T Hansen; T Tuomi; D Gašperíková; M Szopa; E Tjora; T J James; P Kokko; F Loiseleur; E Andersson; S Gaget; B Isomaa; N Nowak; H Raeder; J Stanik; P R Njolstad; M T Malecki; I Klimes; L Groop; O Pedersen; P Froguel; M I McCarthy; A L Gloyn; K R Owen
Journal:  Diabetologia       Date:  2011-08-04       Impact factor: 10.122

7.  Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.

Authors:  Nicholas L Smith; Ming-Huei Chen; Abbas Dehghan; David P Strachan; Saonli Basu; Nicole Soranzo; Caroline Hayward; Igor Rudan; Maria Sabater-Lleal; Joshua C Bis; Moniek P M de Maat; Ann Rumley; Xiaoxiao Kong; Qiong Yang; Frances M K Williams; Veronique Vitart; Harry Campbell; Anders Mälarstig; Kerri L Wiggins; Cornelia M Van Duijn; Wendy L McArdle; James S Pankow; Andrew D Johnson; Angela Silveira; Barbara McKnight; Andre G Uitterlinden; Nena Aleksic; James B Meigs; Annette Peters; Wolfgang Koenig; Mary Cushman; Sekar Kathiresan; Jerome I Rotter; Edwin G Bovill; Albert Hofman; Eric Boerwinkle; Geoffrey H Tofler; John F Peden; Bruce M Psaty; Frank Leebeek; Aaron R Folsom; Martin G Larson; Timothy D Spector; Alan F Wright; James F Wilson; Anders Hamsten; Thomas Lumley; Jacqueline C M Witteman; Weihong Tang; Christopher J O'Donnell
Journal:  Circulation       Date:  2010-03-15       Impact factor: 29.690

8.  Genetic risk profiling for prediction of type 2 diabetes.

Authors:  Raluca Mihaescu; James Meigs; Eric Sijbrands; A Cecile Janssens
Journal:  PLoS Curr       Date:  2011-01-11

9.  Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Authors:  Carl A Anderson; Gabrielle Boucher; Charlie W Lees; Andre Franke; Mauro D'Amato; Kent D Taylor; James C Lee; Philippe Goyette; Marcin Imielinski; Anna Latiano; Caroline Lagacé; Regan Scott; Leila Amininejad; Suzannah Bumpstead; Leonard Baidoo; Robert N Baldassano; Murray Barclay; Theodore M Bayless; Stephan Brand; Carsten Büning; Jean-Frédéric Colombel; Lee A Denson; Martine De Vos; Marla Dubinsky; Cathryn Edwards; David Ellinghaus; Rudolf S N Fehrmann; James A B Floyd; Timothy Florin; Denis Franchimont; Lude Franke; Michel Georges; Jürgen Glas; Nicole L Glazer; Stephen L Guthery; Talin Haritunians; Nicholas K Hayward; Jean-Pierre Hugot; Gilles Jobin; Debby Laukens; Ian Lawrance; Marc Lémann; Arie Levine; Cecile Libioulle; Edouard Louis; Dermot P McGovern; Monica Milla; Grant W Montgomery; Katherine I Morley; Craig Mowat; Aylwin Ng; William Newman; Roel A Ophoff; Laura Papi; Orazio Palmieri; Laurent Peyrin-Biroulet; Julián Panés; Anne Phillips; Natalie J Prescott; Deborah D Proctor; Rebecca Roberts; Richard Russell; Paul Rutgeerts; Jeremy Sanderson; Miquel Sans; Philip Schumm; Frank Seibold; Yashoda Sharma; Lisa A Simms; Mark Seielstad; A Hillary Steinhart; Stephan R Targan; Leonard H van den Berg; Morten Vatn; Hein Verspaget; Thomas Walters; Cisca Wijmenga; David C Wilson; Harm-Jan Westra; Ramnik J Xavier; Zhen Z Zhao; Cyriel Y Ponsioen; Vibeke Andersen; Leif Torkvist; Maria Gazouli; Nicholas P Anagnou; Tom H Karlsen; Limas Kupcinskas; Jurgita Sventoraityte; John C Mansfield; Subra Kugathasan; Mark S Silverberg; Jonas Halfvarson; Jerome I Rotter; Christopher G Mathew; Anne M Griffiths; Richard Gearry; Tariq Ahmad; Steven R Brant; Mathias Chamaillard; Jack Satsangi; Judy H Cho; Stefan Schreiber; Mark J Daly; Jeffrey C Barrett; Miles Parkes; Vito Annese; Hakon Hakonarson; Graham Radford-Smith; Richard H Duerr; Séverine Vermeire; Rinse K Weersma; John D Rioux
Journal:  Nat Genet       Date:  2011-02-06       Impact factor: 38.330

10.  Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Authors:  Manuel A Rivas; Mélissa Beaudoin; Agnes Gardet; Christine Stevens; Yashoda Sharma; Clarence K Zhang; Gabrielle Boucher; Stephan Ripke; David Ellinghaus; Noel Burtt; Tim Fennell; Andrew Kirby; Anna Latiano; Philippe Goyette; Todd Green; Jonas Halfvarson; Talin Haritunians; Joshua M Korn; Finny Kuruvilla; Caroline Lagacé; Benjamin Neale; Ken Sin Lo; Phil Schumm; Leif Törkvist; Marla C Dubinsky; Steven R Brant; Mark S Silverberg; Richard H Duerr; David Altshuler; Stacey Gabriel; Guillaume Lettre; Andre Franke; Mauro D'Amato; Dermot P B McGovern; Judy H Cho; John D Rioux; Ramnik J Xavier; Mark J Daly
Journal:  Nat Genet       Date:  2011-10-09       Impact factor: 38.330

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  951 in total

Review 1.  Genetic architectures of psychiatric disorders: the emerging picture and its implications.

Authors:  Patrick F Sullivan; Mark J Daly; Michael O'Donovan
Journal:  Nat Rev Genet       Date:  2012-07-10       Impact factor: 53.242

2.  Association detection between ordinal trait and rare variants based on adaptive combination of P values.

Authors:  Meida Wang; Weijun Ma; Ying Zhou
Journal:  J Hum Genet       Date:  2017-11-07       Impact factor: 3.172

Review 3.  Genetic and epigenetic control of metabolic health.

Authors:  Robert Wolfgang Schwenk; Heike Vogel; Annette Schürmann
Journal:  Mol Metab       Date:  2013-09-25       Impact factor: 7.422

Review 4.  Drug development in the era of precision medicine.

Authors:  Sarah A Dugger; Adam Platt; David B Goldstein
Journal:  Nat Rev Drug Discov       Date:  2017-12-08       Impact factor: 84.694

5.  REFINING GENETICALLY INFERRED RELATIONSHIPS USING TREELET COVARIANCE SMOOTHING.

Authors:  Andrew Crossett; Ann B Lee; Lambertus Klei; Bernie Devlin; Kathryn Roeder
Journal:  Ann Appl Stat       Date:  2013-06-27       Impact factor: 2.083

6.  DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies.

Authors:  Bettina Mieth; Alexandre Rozier; Juan Antonio Rodriguez; Marina M C Höhne; Nico Görnitz; Klaus-Robert Müller
Journal:  NAR Genom Bioinform       Date:  2021-07-20

Review 7.  Edgotype: a fundamental link between genotype and phenotype.

Authors:  Nidhi Sahni; Song Yi; Quan Zhong; Noor Jailkhani; Benoit Charloteaux; Michael E Cusick; Marc Vidal
Journal:  Curr Opin Genet Dev       Date:  2013-11-26       Impact factor: 5.578

8.  Chip-based direct genotyping of coding variants in genome wide association studies: utility, issues and prospects.

Authors:  Caroline M Nievergelt; Nathan E Wineinger; Ondrej Libiger; Phillip Pham; Guangfa Zhang; Dewleen G Baker; Nicholas J Schork
Journal:  Gene       Date:  2014-02-09       Impact factor: 3.688

9.  Effectiveness of a web-based protocol for the screening and phenotyping of individuals with Tourette syndrome for genetic studies.

Authors:  Crystelle A Egan; Susan E Marakovitz; Julia A O'Rourke; Lisa Osiecki; Cornelia Illmann; Lauren Barton; Elizabeth McLaughlin; Rachel Proujansky; Justin Royal; Heather Cowley; Martha Rangel-Lugo; David L Pauls; Jeremiah M Scharf; Carol A Mathews
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2012-10-22       Impact factor: 3.568

10.  The heritability of prostate cancer in the Nordic Twin Study of Cancer.

Authors:  Jacob B Hjelmborg; Thomas Scheike; Klaus Holst; Axel Skytthe; Kathryn L Penney; Rebecca E Graff; Eero Pukkala; Kaare Christensen; Hans-Olov Adami; Niels V Holm; Elizabeth Nuttall; Steinbjorn Hansen; Mikael Hartman; Kamila Czene; Jennifer R Harris; Jaakko Kaprio; Lorelei A Mucci
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2014-05-08       Impact factor: 4.254

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