Literature DB >> 21292315

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.

Michael A Nalls, Vincent Plagnol, Dena G Hernandez, Manu Sharma, Una-Marie Sheerin, Mohamad Saad, J Simón-Sánchez, Claudia Schulte, Suzanne Lesage, Sigurlaug Sveinbjörnsdóttir, Kári Stefánsson, Maria Martinez, John Hardy, Peter Heutink, Alexis Brice, Thomas Gasser, Andrew B Singleton, Nicholas W Wood.   

Abstract

BACKGROUND: Genome-wide association studies (GWAS) for Parkinson's disease have linked two loci (MAPT and SNCA) to risk of Parkinson's disease. We aimed to identify novel risk loci for Parkinson's disease.
METHODS: We did a meta-analysis of datasets from five Parkinson's disease GWAS from the USA and Europe to identify loci associated with Parkinson's disease (discovery phase). We then did replication analyses of significantly associated loci in an independent sample series. Estimates of population-attributable risk were calculated from estimates from the discovery and replication phases combined, and risk-profile estimates for loci identified in the discovery phase were calculated.
FINDINGS: The discovery phase consisted of 5333 case and 12 019 control samples, with genotyped and imputed data at 7 689 524 SNPs. The replication phase consisted of 7053 case and 9007 control samples. We identified 11 loci that surpassed the threshold for genome-wide significance (p<5×10(-8)). Six were previously identified loci (MAPT, SNCA, HLA-DRB5, BST1, GAK and LRRK2) and five were newly identified loci (ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R). The combined population-attributable risk was 60·3% (95% CI 43·7-69·3). In the risk-profile analysis, the odds ratio in the highest quintile of disease risk was 2·51 (95% CI 2·23-2·83) compared with 1·00 in the lowest quintile of disease risk.
INTERPRETATION: These data provide an insight into the genetics of Parkinson's disease and the molecular cause of the disease and could provide future targets for therapies. FUNDING: Wellcome Trust, National Institute on Aging, and US Department of Defense.
Copyright © 2011 Elsevier Ltd. All rights reserved.

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Year:  2011        PMID: 21292315      PMCID: PMC3696507          DOI: 10.1016/S0140-6736(10)62345-8

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  32 in total

1.  Common and well-documented HLA alleles: report of the Ad-Hoc committee of the american society for histocompatiblity and immunogenetics.

Authors:  Pedro Cano; William Klitz; Steven J Mack; Martin Maiers; Steven G E Marsh; Harriet Noreen; Elaine F Reed; David Senitzer; Michelle Setterholm; Anajane Smith; Marcelo Fernández-Viña
Journal:  Hum Immunol       Date:  2007-02-15       Impact factor: 2.850

2.  Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.

Authors:  Mohamad Saad; Suzanne Lesage; Aude Saint-Pierre; Jean-Christophe Corvol; Diana Zelenika; Jean-Charles Lambert; Marie Vidailhet; George D Mellick; Ebba Lohmann; Franck Durif; Pierre Pollak; Philippe Damier; François Tison; Peter A Silburn; Christophe Tzourio; Sylvie Forlani; Marie-Anne Loriot; Maurice Giroud; Catherine Helmer; Florence Portet; Philippe Amouyel; Mark Lathrop; Alexis Elbaz; Alexandra Durr; Maria Martinez; Alexis Brice
Journal:  Hum Mol Genet       Date:  2010-11-17       Impact factor: 6.150

3.  From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene.

Authors:  Ying Wang; Jeffrey R O'Connell; Patrick F McArdle; James B Wade; Sarah E Dorff; Sanjiv J Shah; Xiaolian Shi; Lin Pan; Evadnie Rampersaud; Haiqing Shen; James D Kim; Arohan R Subramanya; Nanette I Steinle; Afshin Parsa; Carole C Ober; Paul A Welling; Aravinda Chakravarti; Alan B Weder; Richard S Cooper; Braxton D Mitchell; Alan R Shuldiner; Yen-Pei C Chang
Journal:  Proc Natl Acad Sci U S A       Date:  2008-12-29       Impact factor: 11.205

4.  Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.

Authors:  Hon-Chung Fung; Sonja Scholz; Mar Matarin; Javier Simón-Sánchez; Dena Hernandez; Angela Britton; J Raphael Gibbs; Carl Langefeld; Matt L Stiegert; Jennifer Schymick; Michael S Okun; Ronald J Mandel; Hubert H Fernandez; Kelly D Foote; Ramón L Rodríguez; Elizabeth Peckham; Fabienne Wavrant De Vrieze; Katrina Gwinn-Hardy; John A Hardy; Andrew Singleton
Journal:  Lancet Neurol       Date:  2006-11       Impact factor: 44.182

5.  Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

Authors:  Chris C A Spencer; Vincent Plagnol; Amy Strange; Michelle Gardner; Coro Paisan-Ruiz; Gavin Band; Roger A Barker; Celine Bellenguez; Kailash Bhatia; Hannah Blackburn; Jennie M Blackwell; Elvira Bramon; Martin A Brown; Matthew A Brown; David Burn; Juan-Pablo Casas; Patrick F Chinnery; Carl E Clarke; Aiden Corvin; Nicholas Craddock; Panos Deloukas; Sarah Edkins; Jonathan Evans; Colin Freeman; Emma Gray; John Hardy; Gavin Hudson; Sarah Hunt; Janusz Jankowski; Cordelia Langford; Andrew J Lees; Hugh S Markus; Christopher G Mathew; Mark I McCarthy; Karen E Morrison; Colin N A Palmer; Justin P Pearson; Leena Peltonen; Matti Pirinen; Robert Plomin; Simon Potter; Anna Rautanen; Stephen J Sawcer; Zhan Su; Richard C Trembath; Ananth C Viswanathan; Nigel W Williams; Huw R Morris; Peter Donnelly; Nicholas W Wood
Journal:  Hum Mol Genet       Date:  2010-11-02       Impact factor: 6.150

6.  METAL: fast and efficient meta-analysis of genomewide association scans.

Authors:  Cristen J Willer; Yun Li; Gonçalo R Abecasis
Journal:  Bioinformatics       Date:  2010-07-08       Impact factor: 6.937

7.  Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.

Authors:  Taye H Hamza; Cyrus P Zabetian; Albert Tenesa; Alain Laederach; Jennifer Montimurro; Dora Yearout; Denise M Kay; Kimberly F Doheny; Justin Paschall; Elizabeth Pugh; Victoria I Kusel; Randall Collura; John Roberts; Alida Griffith; Ali Samii; William K Scott; John Nutt; Stewart A Factor; Haydeh Payami
Journal:  Nat Genet       Date:  2010-08-15       Impact factor: 38.330

8.  Genome-wide association study reveals genetic risk underlying Parkinson's disease.

Authors:  Javier Simón-Sánchez; Claudia Schulte; Jose M Bras; Manu Sharma; J Raphael Gibbs; Daniela Berg; Coro Paisan-Ruiz; Peter Lichtner; Sonja W Scholz; Dena G Hernandez; Rejko Krüger; Monica Federoff; Christine Klein; Alison Goate; Joel Perlmutter; Michael Bonin; Michael A Nalls; Thomas Illig; Christian Gieger; Henry Houlden; Michael Steffens; Michael S Okun; Brad A Racette; Mark R Cookson; Kelly D Foote; Hubert H Fernandez; Bryan J Traynor; Stefan Schreiber; Sampath Arepalli; Ryan Zonozi; Katrina Gwinn; Marcel van der Brug; Grisel Lopez; Stephen J Chanock; Arthur Schatzkin; Yikyung Park; Albert Hollenbeck; Jianjun Gao; Xuemei Huang; Nick W Wood; Delia Lorenz; Günther Deuschl; Honglei Chen; Olaf Riess; John A Hardy; Andrew B Singleton; Thomas Gasser
Journal:  Nat Genet       Date:  2009-11-15       Impact factor: 38.330

9.  STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression.

Authors:  Michael S Cunnington; Chris Kay; Peter J Avery; Bongani M Mayosi; Mauro Santibanez Koref; Bernard Keavney
Journal:  BMC Med Genet       Date:  2009-12-14       Impact factor: 2.103

10.  Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility.

Authors:  Matthew R Lincoln; Sreeram V Ramagopalan; Michael J Chao; Blanca M Herrera; Gabriele C Deluca; Sarah-Michelle Orton; David A Dyment; A Dessa Sadovnick; George C Ebers
Journal:  Proc Natl Acad Sci U S A       Date:  2009-04-20       Impact factor: 11.205

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  435 in total

Review 1.  Using DNA methylation to understand biological consequences of genetic variability.

Authors:  Dena G Hernandez; Andrew B Singleton
Journal:  Neurodegener Dis       Date:  2011-11-26       Impact factor: 2.977

Review 2.  Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.

Authors:  Connie Marras; Katja Lohmann; Anthony Lang; Christine Klein
Journal:  Neurology       Date:  2012-03-27       Impact factor: 9.910

3.  Developmental exposure to organophosphates triggers transcriptional changes in genes associated with Parkinson's disease in vitro and in vivo.

Authors:  Theodore A Slotkin; Frederic J Seidler
Journal:  Brain Res Bull       Date:  2011-09-28       Impact factor: 4.077

4.  Noninvasive whole-genome sequencing of a human fetus.

Authors:  Jacob O Kitzman; Matthew W Snyder; Mario Ventura; Alexandra P Lewis; Ruolan Qiu; Lavone E Simmons; Hilary S Gammill; Craig E Rubens; Donna A Santillan; Jeffrey C Murray; Holly K Tabor; Michael J Bamshad; Evan E Eichler; Jay Shendure
Journal:  Sci Transl Med       Date:  2012-06-06       Impact factor: 17.956

Review 5.  Mitochondrial dysfunction in Parkinson's disease: molecular mechanisms and pathophysiological consequences.

Authors:  Nicole Exner; Anne Kathrin Lutz; Christian Haass; Konstanze F Winklhofer
Journal:  EMBO J       Date:  2012-06-26       Impact factor: 11.598

6.  Ubiquitin ligase Nedd4 promotes alpha-synuclein degradation by the endosomal-lysosomal pathway.

Authors:  George K Tofaris; Hyoung Tae Kim; Raphael Hourez; Jin-Woo Jung; Kwang Pyo Kim; Alfred L Goldberg
Journal:  Proc Natl Acad Sci U S A       Date:  2011-09-27       Impact factor: 11.205

Review 7.  Microglia and astrocyte dysfunction in parkinson's disease.

Authors:  Tae-In Kam; Jared T Hinkle; Ted M Dawson; Valina L Dawson
Journal:  Neurobiol Dis       Date:  2020-07-28       Impact factor: 5.996

Review 8.  New insight into neurodegeneration: the role of proteomics.

Authors:  Ramavati Pal; Guido Alves; Jan Petter Larsen; Simon Geir Møller
Journal:  Mol Neurobiol       Date:  2013-12-10       Impact factor: 5.590

9.  Exosomes-associated neurodegeneration and progression of Parkinson's disease.

Authors:  Isabella Russo; Luigi Bubacco; Elisa Greggio
Journal:  Am J Neurodegener Dis       Date:  2012-11-18

Review 10.  The genetics of Parkinson's disease: progress and therapeutic implications.

Authors:  Andrew B Singleton; Matthew J Farrer; Vincenzo Bonifati
Journal:  Mov Disord       Date:  2013-01       Impact factor: 10.338

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