Literature DB >> 21487954

Alzheimer's genetics in the GWAS era: a continuing story of 'replications and refutations'.

Lars Bertram1.   

Abstract

After a decade of intensive investigation but only few replicable results, Alzheimer's disease (AD) genetics research is slowly picking up pace. This is mostly owing to the completion of several genome-wide association studies (GWAS), which have suggested the existence of over three dozen potential new AD susceptibility genes. Although only a handful of these could be confirmed in subsequent independent replication efforts to date, this success rate is still much higher than in the pre-GWAS era. This review provides a brief summary of the principal methodologic advances in genetics research of the past decade, followed by a description of the most compelling findings that these advances have unearthed in AD. The paper closes with a discussion of the persistent methodologic difficulties and challenges and an outlook on what we can expect to gain from the next 10 years of AD genetics research.

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Year:  2011        PMID: 21487954     DOI: 10.1007/s11910-011-0193-z

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  48 in total

1.  Genetic heterogeneity in human disease.

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

Review 2.  The pursuit of genome-wide association studies: where are we now?

Authors:  Chee Seng Ku; En Yun Loy; Yudi Pawitan; Kee Seng Chia
Journal:  J Hum Genet       Date:  2010-03-19       Impact factor: 3.172

3.  Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.

Authors:  G Raux; L Guyant-Maréchal; C Martin; J Bou; C Penet; A Brice; D Hannequin; T Frebourg; D Campion
Journal:  J Med Genet       Date:  2005-07-20       Impact factor: 6.318

4.  Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.

Authors:  Minerva M Carrasquillo; Fanggeng Zou; V Shane Pankratz; Samantha L Wilcox; Li Ma; Louise P Walker; Samuel G Younkin; Curtis S Younkin; Linda H Younkin; Gina D Bisceglio; Nilufer Ertekin-Taner; Julia E Crook; Dennis W Dickson; Ronald C Petersen; Neill R Graff-Radford; Steven G Younkin
Journal:  Nat Genet       Date:  2009-01-11       Impact factor: 38.330

5.  Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.

Authors:  W J Strittmatter; A M Saunders; D Schmechel; M Pericak-Vance; J Enghild; G S Salvesen; A D Roses
Journal:  Proc Natl Acad Sci U S A       Date:  1993-03-01       Impact factor: 11.205

6.  Role of genes and environments for explaining Alzheimer disease.

Authors:  Margaret Gatz; Chandra A Reynolds; Laura Fratiglioni; Boo Johansson; James A Mortimer; Stig Berg; Amy Fiske; Nancy L Pedersen
Journal:  Arch Gen Psychiatry       Date:  2006-02

7.  Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.

Authors:  Lars Bertram; Christoph Lange; Kristina Mullin; Michele Parkinson; Monica Hsiao; Meghan F Hogan; Brit M M Schjeide; Basavaraj Hooli; Jason Divito; Iuliana Ionita; Hongyu Jiang; Nan Laird; Thomas Moscarillo; Kari L Ohlsen; Kathryn Elliott; Xin Wang; Diane Hu-Lince; Marie Ryder; Amy Murphy; Steven L Wagner; Deborah Blacker; K David Becker; Rudolph E Tanzi
Journal:  Am J Hum Genet       Date:  2008-10-30       Impact factor: 11.025

8.  Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.

Authors:  Andrew Grupe; Richard Abraham; Yonghong Li; Charles Rowland; Paul Hollingworth; Angharad Morgan; Luke Jehu; Ricardo Segurado; David Stone; Eric Schadt; Maha Karnoub; Petra Nowotny; Kristina Tacey; Joseph Catanese; John Sninsky; Carol Brayne; David Rubinsztein; Michael Gill; Brian Lawlor; Simon Lovestone; Peter Holmans; Michael O'Donovan; John C Morris; Leon Thal; Alison Goate; Michael J Owen; Julie Williams
Journal:  Hum Mol Genet       Date:  2007-02-22       Impact factor: 6.150

9.  Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.

Authors:  Aleksey Shatunov; Kin Mok; Stephen Newhouse; Michael E Weale; Bradley Smith; Caroline Vance; Lauren Johnson; Jan H Veldink; Michael A van Es; Leonard H van den Berg; Wim Robberecht; Philip Van Damme; Orla Hardiman; Anne E Farmer; Cathryn M Lewis; Amy W Butler; Olubunmi Abel; Peter M Andersen; Isabella Fogh; Vincenzo Silani; Adriano Chiò; Bryan J Traynor; Judith Melki; Vincent Meininger; John E Landers; Peter McGuffin; Jonathan D Glass; Hardev Pall; P Nigel Leigh; John Hardy; Robert H Brown; John F Powell; Richard W Orrell; Karen E Morrison; Pamela J Shaw; Christopher E Shaw; Ammar Al-Chalabi
Journal:  Lancet Neurol       Date:  2010-10       Impact factor: 44.182

10.  A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.

Authors:  Keith D Coon; Amanda J Myers; David W Craig; Jennifer A Webster; John V Pearson; Diane Hu Lince; Victoria L Zismann; Thomas G Beach; Doris Leung; Leslie Bryden; Rebecca F Halperin; Lauren Marlowe; Mona Kaleem; Douglas G Walker; Rivka Ravid; Christopher B Heward; Joseph Rogers; Andreas Papassotiropoulos; Eric M Reiman; John Hardy; Dietrich A Stephan
Journal:  J Clin Psychiatry       Date:  2007-04       Impact factor: 4.384

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  15 in total

Review 1.  At the interface of sensory and motor dysfunctions and Alzheimer's disease.

Authors:  Mark W Albers; Grover C Gilmore; Jeffrey Kaye; Claire Murphy; Arthur Wingfield; David A Bennett; Adam L Boxer; Aron S Buchman; Karen J Cruickshanks; Davangere P Devanand; Charles J Duffy; Christine M Gall; George A Gates; Ann-Charlotte Granholm; Takao Hensch; Roee Holtzer; Bradley T Hyman; Frank R Lin; Ann C McKee; John C Morris; Ronald C Petersen; Lisa C Silbert; Robert G Struble; John Q Trojanowski; Joe Verghese; Donald A Wilson; Shunbin Xu; Li I Zhang
Journal:  Alzheimers Dement       Date:  2014-07-09       Impact factor: 21.566

2.  Apolipoprotein E allelotype is associated with neuropathological findings in Alzheimer's disease.

Authors:  Neena Theresa Kumar; Knut Liestøl; Else Marit Løberg; Henrik Mikael Reims; Jan Mæhlen
Journal:  Virchows Arch       Date:  2015-04-22       Impact factor: 4.064

3.  Role of common and rare APP DNA sequence variants in Alzheimer disease.

Authors:  B V Hooli; G Mohapatra; M Mattheisen; A R Parrado; J T Roehr; Y Shen; J F Gusella; R Moir; A J Saunders; C Lange; R E Tanzi; L Bertram
Journal:  Neurology       Date:  2012-04-04       Impact factor: 9.910

4.  Exploratory analysis of seven Alzheimer's disease genes: disease progression.

Authors:  Agustín Ruiz; Isabel Hernández; Maiteé Ronsende-Roca; Antonio González-Pérez; Emma Rodriguez-Noriega; Reposo Ramírez-Lorca; Ana Mauleón; Concha Moreno-Rey; Lucie Boswell; Larry Tune; Sergi Valero; Montserrat Alegret; Javier Gayán; James T Becker; Luis Miguel Real; Lluís Tárraga; Clive Ballard; Michael Terrin; Stephanie Sherman; Haydeh Payami; Oscar L López; Jacobo E Mintzer; Mercè Boada
Journal:  Neurobiol Aging       Date:  2012-10-01       Impact factor: 4.673

Review 5.  New genes and new insights from old genes: update on Alzheimer disease.

Authors:  John M Ringman; Giovanni Coppola
Journal:  Continuum (Minneap Minn)       Date:  2013-04

Review 6.  Early-onset Alzheimer's disease: nonamnestic subtypes and type 2 AD.

Authors:  Mario F Mendez
Journal:  Arch Med Res       Date:  2012-11-21       Impact factor: 2.235

7.  Functional genomic screen and network analysis reveal novel modifiers of tauopathy dissociated from tau phosphorylation.

Authors:  Surendra S Ambegaokar; George R Jackson
Journal:  Hum Mol Genet       Date:  2011-09-23       Impact factor: 6.150

8.  Data mining of high density genomic variant data for prediction of Alzheimer's disease risk.

Authors:  Natalia Briones; Valentin Dinu
Journal:  BMC Med Genet       Date:  2012-01-25       Impact factor: 2.103

9.  Clinico-pathological correlations of the most common neurodegenerative dementias.

Authors:  Ricardo Taipa; João Pinho; Manuel Melo-Pires
Journal:  Front Neurol       Date:  2012-05-01       Impact factor: 4.003

10.  Gene-based rare allele analysis identified a risk gene of Alzheimer's disease.

Authors:  Jong Hun Kim; Pamela Song; Hyunsun Lim; Jae-Hyung Lee; Jun Hong Lee; Sun Ah Park
Journal:  PLoS One       Date:  2014-10-20       Impact factor: 3.240

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