Literature DB >> 23835440

Bringing genome-wide association findings into clinical use.

Teri A Manolio1.   

Abstract

Genome-wide association studies (GWASs) have been heralded as a major advance in biomedical discovery, having identified ~2,000 robust associations with complex diseases since 2005. Despite this success, they have met considerable scepticism regarding their clinical applicability; this scepticism arises from such aspects as the modest effect sizes of associated variants and their unclear functional consequences. There are, however, promising examples of GWAS findings that will or that may soon be translated into clinical care. These examples include variants identified through GWASs that provide strongly predictive or prognostic information or that have important pharmacological implications; these examples may illustrate promising approaches to wider clinical application.

Mesh:

Year:  2013        PMID: 23835440     DOI: 10.1038/nrg3523

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  92 in total

1.  Genetic heterogeneity in human disease.

Authors:  Jon McClellan; Mary-Claire King
Journal:  Cell       Date:  2010-04-16       Impact factor: 41.582

2.  Genomics for the world.

Authors:  Carlos D Bustamante; Esteban González Burchard; Francisco M De la Vega
Journal:  Nature       Date:  2011-07-13       Impact factor: 49.962

3.  Value of genetic profiling for the prediction of coronary heart disease.

Authors:  Jeroen B van der Net; A Cecile J W Janssens; Eric J G Sijbrands; Ewout W Steyerberg
Journal:  Am Heart J       Date:  2009-07       Impact factor: 4.749

Review 4.  Statin-associated myopathy.

Authors:  Paul D Thompson; Priscilla Clarkson; Richard H Karas
Journal:  JAMA       Date:  2003-04-02       Impact factor: 56.272

5.  Inflammatory disease protective R381Q IL23 receptor polymorphism results in decreased primary CD4+ and CD8+ human T-cell functional responses.

Authors:  Ritu Sarin; Xingxin Wu; Clara Abraham
Journal:  Proc Natl Acad Sci U S A       Date:  2011-05-23       Impact factor: 11.205

Review 6.  Copy number variants in pharmacogenetic genes.

Authors:  Yijing He; Janelle M Hoskins; Howard L McLeod
Journal:  Trends Mol Med       Date:  2011-03-08       Impact factor: 11.951

7.  Association between common variants near the melanocortin 4 receptor gene and severe antipsychotic drug-induced weight gain.

Authors:  Anil K Malhotra; Christoph U Correll; Nabilah I Chowdhury; Daniel J Müller; Peter K Gregersen; Annette T Lee; Arun K Tiwari; John M Kane; W Wolfgang Fleischhacker; Rene S Kahn; Roel A Ophoff; Herbert Y Meltzer; Todd Lencz; James L Kennedy
Journal:  Arch Gen Psychiatry       Date:  2012-09

8.  Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals.

Authors:  Malcolm G Dunlop; Albert Tenesa; Susan M Farrington; Stephane Ballereau; David H Brewster; Thibaud Koessler; Paul Pharoah; Clemens Schafmayer; Jochen Hampe; Henry Völzke; Jenny Chang-Claude; Michael Hoffmeister; Hermann Brenner; Susanna von Holst; Simone Picelli; Annika Lindblom; Mark A Jenkins; John L Hopper; Graham Casey; David Duggan; Polly A Newcomb; Anna Abulí; Xavier Bessa; Clara Ruiz-Ponte; Sergi Castellví-Bel; Iina Niittymäki; Sari Tuupanen; Auli Karhu; Lauri Aaltonen; Brent Zanke; Tom Hudson; Steven Gallinger; Ella Barclay; Lynn Martin; Maggie Gorman; Luis Carvajal-Carmona; Axel Walther; David Kerr; Steven Lubbe; Peter Broderick; Ian Chandler; Alan Pittman; Steven Penegar; Harry Campbell; Ian Tomlinson; Richard S Houlston
Journal:  Gut       Date:  2012-04-05       Impact factor: 23.059

9.  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

10.  Prediction and interaction in complex disease genetics: experience in type 1 diabetes.

Authors:  David G Clayton
Journal:  PLoS Genet       Date:  2009-07-03       Impact factor: 5.917

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  149 in total

Review 1.  Genes affecting β-cell function in type 1 diabetes.

Authors:  Tina Fløyel; Simranjeet Kaur; Flemming Pociot
Journal:  Curr Diab Rep       Date:  2015-11       Impact factor: 4.810

2.  Genetic-risk assessment of GWAS-derived susceptibility loci for type 2 diabetes in a 10 year follow-up of a population-based cohort study.

Authors:  Min Jin Go; Young Lee; Suyeon Park; Soo Heon Kwak; Bong-Jo Kim; Juyoung Lee
Journal:  J Hum Genet       Date:  2016-07-21       Impact factor: 3.172

3.  CORR® ORS Richard A. Brand Award: Disruption in Peroxisome Proliferator-Activated Receptor-γ (PPARG) Increases Osteonecrosis Risk Through Genetic Variance and Pharmacologic Modulation.

Authors:  Cody C Wyles; Christopher R Paradise; Matthew T Houdek; Susan L Slager; Andre Terzic; Atta Behfar; Andre J van Wijnen; Rafael J Sierra
Journal:  Clin Orthop Relat Res       Date:  2019-08       Impact factor: 4.176

4.  Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk Estimates: Effect on Low-Density Lipoprotein Cholesterol Levels (the MI-GENES Clinical Trial).

Authors:  Iftikhar J Kullo; Hayan Jouni; Erin E Austin; Sherry-Ann Brown; Teresa M Kruisselbrink; Iyad N Isseh; Raad A Haddad; Tariq S Marroush; Khader Shameer; Janet E Olson; Ulrich Broeckel; Robert C Green; Daniel J Schaid; Victor M Montori; Kent R Bailey
Journal:  Circulation       Date:  2016-02-25       Impact factor: 29.690

Review 5.  Personalized Therapy of Hypertension: the Past and the Future.

Authors:  Paolo Manunta; Mara Ferrandi; Daniele Cusi; Patrizia Ferrari; Jan Staessen; Giuseppe Bianchi
Journal:  Curr Hypertens Rep       Date:  2016-03       Impact factor: 5.369

6.  Using Public-Private Partnerships to Mitigate Disparities in Access to Genetic Services: Lessons from Wisconsin.

Authors:  Laura Senier; Matthew Kearney; Jason Orne
Journal:  Adv Med Sociol       Date:  2015

Review 7.  Radiogenomics: Identification of Genomic Predictors for Radiation Toxicity.

Authors:  Barry S Rosenstein
Journal:  Semin Radiat Oncol       Date:  2017-10       Impact factor: 5.934

Review 8.  Non-coding RNAs in cardiovascular diseases: diagnostic and therapeutic perspectives.

Authors:  Wolfgang Poller; Stefanie Dimmeler; Stephane Heymans; Tanja Zeller; Jan Haas; Mahir Karakas; David-Manuel Leistner; Philipp Jakob; Shinichi Nakagawa; Stefan Blankenberg; Stefan Engelhardt; Thomas Thum; Christian Weber; Benjamin Meder; Roger Hajjar; Ulf Landmesser
Journal:  Eur Heart J       Date:  2018-08-01       Impact factor: 29.983

9.  Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.

Authors:  Zheng Li; Zhenxun Wang; Mei Chin Lee; Matthias Zenkel; Esther Peh; Mineo Ozaki; Fotis Topouzis; Satoko Nakano; Anita Chan; Shuwen Chen; Susan E I Williams; Andrew Orr; Masakazu Nakano; Nino Kobakhidze; Tomasz Zarnowski; Alina Popa-Cherecheanu; Takanori Mizoguchi; Shin-Ichi Manabe; Ken Hayashi; Shigeyasu Kazama; Kenji Inoue; Yosai Mori; Kazunori Miyata; Kazuhisa Sugiyama; Tomomi Higashide; Etsuo Chihara; Ryuichi Ideta; Satoshi Ishiko; Akitoshi Yoshida; Kana Tokumo; Yoshiaki Kiuchi; Tsutomu Ohashi; Toshiya Sakurai; Takako Sugimoto; Hideki Chuman; Makoto Aihara; Masaru Inatani; Kazuhiko Mori; Yoko Ikeda; Morio Ueno; Daniel Gaston; Paul Rafuse; Lesya Shuba; Joseph Saunders; Marcelo Nicolela; George Chichua; Sergo Tabagari; Panayiota Founti; Kar Seng Sim; Wee Yang Meah; Hui Meng Soo; Xiao Yin Chen; Anthi Chatzikyriakidou; Christina Keskini; Theofanis Pappas; Eleftherios Anastasopoulos; Alexandros Lambropoulos; Evangelia S Panagiotou; Dimitrios G Mikropoulos; Ewa Kosior-Jarecka; Augustine Cheong; Yuanhan Li; Urszula Lukasik; Monisha E Nongpiur; Rahat Husain; Shamira A Perera; Lydia Álvarez; Montserrat García; Héctor González-Iglesias; Andrés Fernández-Vega Cueto; Luis Fernández-Vega Cueto; Federico Martinón-Torres; Antonio Salas; Çilingir Oguz; Nevbahar Tamcelik; Eray Atalay; Bilge Batu; Murat Irkec; Dilek Aktas; Burcu Kasim; Yury S Astakhov; Sergei Y Astakhov; Eugeny L Akopov; Andreas Giessl; Christian Mardin; Claus Hellerbrand; Jessica N Cooke Bailey; Robert P Igo; Jonathan L Haines; Deepak P Edward; Steffen Heegaard; Sonia Davila; Patrick Tan; Jae H Kang; Louis R Pasquale; Friedrich E Kruse; André Reis; Trevor R Carmichael; Michael Hauser; Michele Ramsay; Georg Mossböck; Nilgun Yildirim; Kei Tashiro; Anastasios G P Konstas; Miguel Coca-Prados; Jia Nee Foo; Shigeru Kinoshita; Chie Sotozono; Toshiaki Kubota; Michael Dubina; Robert Ritch; Janey L Wiggs; Francesca Pasutto; Ursula Schlötzer-Schrehardt; Ying Swan Ho; Tin Aung; Wai Leong Tam; Chiea Chuen Khor
Journal:  JAMA       Date:  2021-02-23       Impact factor: 56.272

10.  A Crohn's disease variant in Atg16l1 enhances its degradation by caspase 3.

Authors:  Aditya Murthy; Yun Li; Ivan Peng; Mike Reichelt; Anand Kumar Katakam; Rajkumar Noubade; Merone Roose-Girma; Jason DeVoss; Lauri Diehl; Robert R Graham; Menno van Lookeren Campagne
Journal:  Nature       Date:  2014-02-19       Impact factor: 49.962

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