Literature DB >> 28727176

Polygenic risk score analysis of pathologically confirmed Alzheimer disease.

Valentina Escott-Price1, Amanda J Myers2, Matt Huentelman3, John Hardy4.   

Abstract

Previous estimates of the utility of polygenic risk score analysis for the prediction of Alzheimer disease have given area under the curve (AUC) estimates of <80%. However, these have been based on the genetic analysis of clinical case-control series. Here, we apply the same analytic approaches to a pathological case-control series and show a predictive AUC of 84%. We suggest that this analysis has clinical utility and that there is limited room for further improvement using genetic data. Ann Neurol 2017;82:311-314.
© 2017 American Neurological Association.

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Year:  2017        PMID: 28727176      PMCID: PMC5599118          DOI: 10.1002/ana.24999

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  11 in total

1.  Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.

Authors:  Jason J Corneveaux; Amanda J Myers; April N Allen; Jeremy J Pruzin; Manuel Ramirez; Anzhelika Engel; Michael A Nalls; Kewei Chen; Wendy Lee; Kendria Chewning; Stephen E Villa; Hunsar B Meechoovet; Jill D Gerber; Danielle Frost; Hollie L Benson; Sean O'Reilly; Lori B Chibnik; Joshua M Shulman; Andrew B Singleton; David W Craig; Kendall R Van Keuren-Jensen; Travis Dunckley; David A Bennett; Philip L De Jager; Christopher Heward; John Hardy; Eric M Reiman; Matthew J Huentelman
Journal:  Hum Mol Genet       Date:  2010-06-09       Impact factor: 6.150

2.  A new multipoint method for genome-wide association studies by imputation of genotypes.

Authors:  Jonathan Marchini; Bryan Howie; Simon Myers; Gil McVean; Peter Donnelly
Journal:  Nat Genet       Date:  2007-06-17       Impact factor: 38.330

3.  Estimation of SNP heritability from dense genotype data.

Authors:  S Hong Lee; Jian Yang; Guo-Bo Chen; Stephan Ripke; Eli A Stahl; Christina M Hultman; Pamela Sklar; Peter M Visscher; Patrick F Sullivan; Michael E Goddard; Naomi R Wray
Journal:  Am J Hum Genet       Date:  2013-12-05       Impact factor: 11.025

4.  Polygenic score prediction captures nearly all common genetic risk for Alzheimer's disease.

Authors:  Valentina Escott-Price; Maryam Shoai; Richard Pither; Julie Williams; John Hardy
Journal:  Neurobiol Aging       Date:  2016-08-05       Impact factor: 4.673

5.  Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

Authors:  Denise Harold; Richard Abraham; Paul Hollingworth; Rebecca Sims; Amy Gerrish; Marian L Hamshere; Jaspreet Singh Pahwa; Valentina Moskvina; Kimberley Dowzell; Amy Williams; Nicola Jones; Charlene Thomas; Alexandra Stretton; Angharad R Morgan; Simon Lovestone; John Powell; Petroula Proitsi; Michelle K Lupton; Carol Brayne; David C Rubinsztein; Michael Gill; Brian Lawlor; Aoibhinn Lynch; Kevin Morgan; Kristelle S Brown; Peter A Passmore; David Craig; Bernadette McGuinness; Stephen Todd; Clive Holmes; David Mann; A David Smith; Seth Love; Patrick G Kehoe; John Hardy; Simon Mead; Nick Fox; Martin Rossor; John Collinge; Wolfgang Maier; Frank Jessen; Britta Schürmann; Reinhard Heun; Hendrik van den Bussche; Isabella Heuser; Johannes Kornhuber; Jens Wiltfang; Martin Dichgans; Lutz Frölich; Harald Hampel; Michael Hüll; Dan Rujescu; Alison M Goate; John S K Kauwe; Carlos Cruchaga; Petra Nowotny; John C Morris; Kevin Mayo; Kristel Sleegers; Karolien Bettens; Sebastiaan Engelborghs; Peter P De Deyn; Christine Van Broeckhoven; Gill Livingston; Nicholas J Bass; Hugh Gurling; Andrew McQuillin; Rhian Gwilliam; Panagiotis Deloukas; Ammar Al-Chalabi; Christopher E Shaw; Magda Tsolaki; Andrew B Singleton; Rita Guerreiro; Thomas W Mühleisen; Markus M Nöthen; Susanne Moebus; Karl-Heinz Jöckel; Norman Klopp; H-Erich Wichmann; Minerva M Carrasquillo; V Shane Pankratz; Steven G Younkin; Peter A Holmans; Michael O'Donovan; Michael J Owen; Julie Williams
Journal:  Nat Genet       Date:  2009-09-06       Impact factor: 38.330

6.  Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.

Authors:  Lesley Jones; Peter A Holmans; Marian L Hamshere; Denise Harold; Valentina Moskvina; Dobril Ivanov; Andrew Pocklington; Richard Abraham; Paul Hollingworth; Rebecca Sims; Amy Gerrish; Jaspreet Singh Pahwa; Nicola Jones; Alexandra Stretton; Angharad R Morgan; Simon Lovestone; John Powell; Petroula Proitsi; Michelle K Lupton; Carol Brayne; David C Rubinsztein; Michael Gill; Brian Lawlor; Aoibhinn Lynch; Kevin Morgan; Kristelle S Brown; Peter A Passmore; David Craig; Bernadette McGuinness; Stephen Todd; Clive Holmes; David Mann; A David Smith; Seth Love; Patrick G Kehoe; Simon Mead; Nick Fox; Martin Rossor; John Collinge; Wolfgang Maier; Frank Jessen; Britta Schürmann; Reinhard Heun; Heike Kölsch; Hendrik van den Bussche; Isabella Heuser; Oliver Peters; Johannes Kornhuber; Jens Wiltfang; Martin Dichgans; Lutz Frölich; Harald Hampel; Michael Hüll; Dan Rujescu; Alison M Goate; John S K Kauwe; Carlos Cruchaga; Petra Nowotny; John C Morris; Kevin Mayo; Gill Livingston; Nicholas J Bass; Hugh Gurling; Andrew McQuillin; Rhian Gwilliam; Panos Deloukas; Ammar Al-Chalabi; Christopher E Shaw; Andrew B Singleton; Rita Guerreiro; Thomas W Mühleisen; Markus M Nöthen; Susanne Moebus; Karl-Heinz Jöckel; Norman Klopp; H-Erich Wichmann; Eckhard Rüther; Minerva M Carrasquillo; V Shane Pankratz; Steven G Younkin; John Hardy; Michael C O'Donovan; Michael J Owen; Julie Williams
Journal:  PLoS One       Date:  2010-11-15       Impact factor: 3.240

7.  Common polygenic variation enhances risk prediction for Alzheimer's disease.

Authors:  Valentina Escott-Price; Rebecca Sims; Christian Bannister; Denise Harold; Maria Vronskaya; Elisa Majounie; Nandini Badarinarayan; Kevin Morgan; Peter Passmore; Clive Holmes; John Powell; Carol Brayne; Michael Gill; Simon Mead; Alison Goate; Carlos Cruchaga; Jean-Charles Lambert; Cornelia van Duijn; Wolfgang Maier; Alfredo Ramirez; Peter Holmans; Lesley Jones; John Hardy; Sudha Seshadri; Gerard D Schellenberg; Philippe Amouyel; Julie Williams
Journal:  Brain       Date:  2015-10-21       Impact factor: 13.501

8.  A genome-wide gene-expression analysis and database in transgenic mice during development of amyloid or tau pathology.

Authors:  Mar Matarin; Dervis A Salih; Marina Yasvoina; Damian M Cummings; Sebastian Guelfi; Wenfei Liu; Muzammil A Nahaboo Solim; Thomas G Moens; Rocio Moreno Paublete; Shabinah S Ali; Marina Perona; Roshni Desai; Kenneth J Smith; Judy Latcham; Michael Fulleylove; Jill C Richardson; John Hardy; Frances A Edwards
Journal:  Cell Rep       Date:  2015-01-22       Impact factor: 9.423

9.  Repeat expansion in C9ORF72 in Alzheimer's disease.

Authors:  Elisa Majounie; Yevgeniya Abramzon; Alan E Renton; Rodney Perry; Susan S Bassett; Olga Pletnikova; Juan C Troncoso; John Hardy; Andrew B Singleton; Bryan J Traynor
Journal:  N Engl J Med       Date:  2012-01-04       Impact factor: 91.245

Review 10.  A critique of the drug discovery and phase 3 clinical programs targeting the amyloid hypothesis for Alzheimer disease.

Authors:  Eric Karran; John Hardy
Journal:  Ann Neurol       Date:  2014-07-02       Impact factor: 10.422

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  61 in total

1.  Reserve and Alzheimer's disease genetic risk: Effects on hospitalization and mortality.

Authors:  Teresa Jenica Filshtein; Willa D Brenowitz; Elizabeth Rose Mayeda; Timothy J Hohman; Stefan Walter; Rich N Jones; Fanny M Elahi; M Maria Glymour
Journal:  Alzheimers Dement       Date:  2019-07       Impact factor: 21.566

2.  A Weighted Genetic Risk Score Based on Four APOE-Independent Alzheimer's Disease Risk Loci May Supplement APOE E4 for Better Disease Prediction.

Authors:  Chunyu Zhang; Riletemuer Hu; Guohua Zhang; Yan Zhe; Baolige Hu; Juan He; Zhiguang Wang; Xiaokun Qi
Journal:  J Mol Neurosci       Date:  2019-07-25       Impact factor: 3.444

Review 3.  A multiomics approach to heterogeneity in Alzheimer's disease: focused review and roadmap.

Authors:  AmanPreet Badhwar; G Peggy McFall; Shraddha Sapkota; Sandra E Black; Howard Chertkow; Simon Duchesne; Mario Masellis; Liang Li; Roger A Dixon; Pierre Bellec
Journal:  Brain       Date:  2020-05-01       Impact factor: 13.501

4.  Genetic risk for coronary heart disease alters the influence of Alzheimer's genetic risk on mild cognitive impairment.

Authors:  Jeremy A Elman; Matthew S Panizzon; Mark W Logue; Nathan A Gillespie; Michael C Neale; Chandra A Reynolds; Daniel E Gustavson; Brinda K Rana; Ole A Andreassen; Anders M Dale; Carol E Franz; Michael J Lyons; William S Kremen
Journal:  Neurobiol Aging       Date:  2019-06-08       Impact factor: 4.673

5.  Polygenic hazard score, amyloid deposition and Alzheimer's neurodegeneration.

Authors:  Chin Hong Tan; Luke W Bonham; Chun Chieh Fan; Elizabeth C Mormino; Leo P Sugrue; Iris J Broce; Christopher P Hess; Jennifer S Yokoyama; Gil D Rabinovici; Bruce L Miller; Kristine Yaffe; Gerard D Schellenberg; Karolina Kauppi; Dominic Holland; Linda K McEvoy; Walter A Kukull; Duygu Tosun; Michael W Weiner; Reisa A Sperling; David A Bennett; Bradley T Hyman; Ole A Andreassen; Anders M Dale; Rahul S Desikan
Journal:  Brain       Date:  2019-02-01       Impact factor: 13.501

6.  Pupillary dilation responses as a midlife indicator of risk for Alzheimer's disease: association with Alzheimer's disease polygenic risk.

Authors:  William S Kremen; Matthew S Panizzon; Jeremy A Elman; Eric L Granholm; Ole A Andreassen; Anders M Dale; Nathan A Gillespie; Daniel E Gustavson; Mark W Logue; Michael J Lyons; Michael C Neale; Chandra A Reynolds; Nathan Whitsel; Carol E Franz
Journal:  Neurobiol Aging       Date:  2019-09-09       Impact factor: 4.673

Review 7.  Progress in Polygenic Composite Scores in Alzheimer's and Other Complex Diseases.

Authors:  Danai Chasioti; Jingwen Yan; Kwangsik Nho; Andrew J Saykin
Journal:  Trends Genet       Date:  2019-03-25       Impact factor: 11.639

Review 8.  The multiplex model of the genetics of Alzheimer's disease.

Authors:  Rebecca Sims; Matthew Hill; Julie Williams
Journal:  Nat Neurosci       Date:  2020-02-28       Impact factor: 24.884

Review 9.  A Blood Test for Alzheimer's Disease: Progress, Challenges, and Recommendations.

Authors:  Steven J Kiddle; Nicola Voyle; Richard J B Dobson
Journal:  J Alzheimers Dis       Date:  2018       Impact factor: 4.472

10.  Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease.

Authors:  Sultan Chaudhury; Tulsi Patel; Imelda S Barber; Tamar Guetta-Baranes; Keeley J Brookes; Sally Chappell; James Turton; Rita Guerreiro; Jose Bras; Dena Hernandez; Andrew Singleton; John Hardy; David Mann; Kevin Morgan
Journal:  Neurobiol Aging       Date:  2017-10-10       Impact factor: 4.673

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