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

Lookup NU author(s): Professor David Burn, Professor Patrick Chinnery, Dr Gavin Hudson

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Abstract

We performed a genome-wide association study (GWAS) in 1705 Parkinson's disease (PD) UK patients and 5175 UK controls, the largest sample size so far for a PD GWAS. Replication was attempted in an additional cohort of 1039 French PD cases and 1984 controls for the 27 regions showing the strongest evidence of association (P < 10(-4)). We replicated published associations in the 4q22/SNCA and 17q21/MAPT chromosome regions (P < 10(-10)) and found evidence for an additional independent association in 4q22/SNCA. A detailed analysis of the haplotype structure at 17q21 showed that there are three separate risk groups within this region. We found weak but consistent evidence of association for common variants located in three previously published associated regions (4p15/BST1, 4p16/GAK and 1q32/PARK16). We found no support for the previously reported SNP association in 12q12/LRRK2. We also found an association of the two SNPs in 4q22/SNCA with the age of onset of the disease.


Publication metadata

Author(s): Spencer CCA, Plagnol V, Strange A, Gardner M, Paisan-Ruiz C, Band G, Barker RA, Bellenguez C, Bhatia K, Blackburn H, Blackwell JM, Bramon E, Brown MA, Brown MA, Burn D, Casas JP, Chinnery PF, Clarke CE, Corvin A, Craddock N, Deloukas P, Edkins S, Evans J, Freeman C, Gray E, Hardy J, Hudson G, Hunt S, Jankowski J, Langford C, Lees AJ, Markus HS, Mathew CG, McCarthy MI, Morrison KE, Palmer CNA, Pearson JP, Peltonen L, Pirinen M, Plomin R, Potter S, Rautanen A, Sawcer SJ, Su Z, Trembath RC, Viswanathan AC, Williams NW, Morris HR, Donnelly P, Wood NW, UK Parkinson's Dis Consortium, Wellcome Trust Case Control Consor

Publication type: Article

Publication status: Published

Journal: Human Molecular Genetics

Year: 2011

Volume: 20

Issue: 2

Pages: 345-353

Print publication date: 02/11/2010

ISSN (print): 0964-6906

ISSN (electronic): 1460-2083

Publisher: Oxford University Press

URL: http://dx.doi.org/10.1093/hmg/ddq469

DOI: 10.1093/hmg/ddq469


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Funding

Funder referenceFunder name
Department of Health through National Institute for Health Research to Moor-fields Eye Hospital NHS Foundation Trust
JDRF
Department of Health's NIHR Biomedical Research Centres
UCL Institute of Ophthalmology for a Specialist Biomedical Research Centre for Ophthalmology
083948Wellcome Trust
068545/Z/02Wellcome Trust
084747Wellcome Trust
G0000934Medical Research Council
G0700943Medical Research Council
J-0804Parkinson's UK (formerly The PD society)

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