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

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; Wellcome Trust Case Control Consor

doi:10.1093/hmg/ddq469

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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

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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

Chris C. A. Spencer, Vincent Plagnol, Amy Strange, Michelle Gardner, Coro Paisan-Ruiz, Gavin Band, Roger A. Barker, Celine Bellenguez, Kailash Bhatia, Hannah Blackburn, …

Human molecular genetics, Vol.20(2), pp.345-353

15/01/2011

DOI: https://doi.org/10.1093/hmg/ddq469

PMCID: PMC3005904

PMID: 21044948

Abstract

Biochemistry & Molecular Biology

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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.

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Title: Dissection of the genetics of Parkinson's disease identifies an additional association 5 ' of SNCA and multiple associated haplotypes at 17q21
Creators - without role: Chris C. A. Spencer - University of Oxford
Vincent Plagnol - UCL Genet Inst, London WC1E 6BT, England
Amy Strange - University of Oxford
Michelle Gardner - UCL Inst Neurol, London WC1N 3BG, England
Coro Paisan-Ruiz - UCL Inst Neurol, London WC1N 3BG, England
Gavin Band - University of Oxford
Roger A. Barker - Cambridge Ctr Brain Repair, Cambridge CB2 2PY, England
Celine Bellenguez - University of Oxford
Kailash Bhatia - UCL Inst Neurol, London WC1N 3BG, England
Hannah Blackburn - Wellcome Sanger Institute
Jennie M. Blackwell - University of Western Australia
Elvira Bramon - Kings Coll London, Inst Psychiat, NIHR Biomed Res Ctr Mental Hlth, Dept Psychosis Studies, London SE5 8AF, England
Martin A. Brown - Supreme Council Of Health
Matthew A. Brown - University of Queensland
David Burn - Newcastle Univ, Inst Ageing & Hlth, Clin Ageing Res Unit, Newcastle Upon Tyne NE4 5PL, Tyne & Wear, England
Juan-Pablo Casas - UCL, Dept Epidemiol & Publ Hlth, London WC1E 6BT, England
Patrick F. Chinnery - Supreme Council Of Health
Carl E. Clarke - University of Birmingham
Aiden Corvin - College Station Medical Center
Nicholas Craddock - Cardiff University
Panos Deloukas - Wellcome Sanger Institute
Sarah Edkins - Wellcome Sanger Institute
Jonathan Evans - Cambridge Ctr Brain Repair, Cambridge CB2 2PY, England
Colin Freeman - University of Oxford
Emma Gray - Wellcome Sanger Institute
John Hardy - UCL Inst Neurol, London WC1N 3BG, England
Gavin Hudson - Supreme Council Of Health
Sarah Hunt - Wellcome Sanger Institute
Janusz Jankowski - Supreme Council Of Health
Cordelia Langford - Wellcome Sanger Institute
Andrew J. Lees - UCL Inst Neurol, London WC1N 3BG, England
Hugh S. Markus - George Institute for Global Health
Christopher G. Mathew - Supreme Council Of Health
Mark I. McCarthy - University of Oxford
Karen E. Morrison - University of Birmingham
Colin N. A. Palmer - Biomed Research Institute
Justin P. Pearson - Cardiff University
Leena Peltonen - Wellcome Sanger Institute
Matti Pirinen - University of Oxford
Robert Plomin - Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Ctr, London SE5 8AF, England
Simon Potter - Wellcome Sanger Institute
Anna Rautanen - University of Oxford
Stephen J. Sawcer - University of Cambridge
Zhan Su - University of Oxford
Richard C. Trembath - Supreme Council Of Health
Ananth C. Viswanathan - Moorfields Eye Hosp NHS Fdn Trust, NIHR Biomed Res Ctr Ophthalmol, London, England
Nigel W. Williams - Cardiff University
Huw R. Morris - University of Wales
Peter Donnelly - University of Oxford
Nicholas W. Wood - UCL Inst Neurol, London WC1N 3BG, England
Wellcome Trust Case Control Consor
Publication Details: Human molecular genetics, Vol.20(2), pp.345-353
Publisher: Oxford Univ Press
Number of pages: 9
Grant note: 068545/Z/02; 084747; 083948 / Wellcome Trust J-0804 / Parkinson's UK (formerly The PD society) G0700943; MC_G1000735; G0000934; G9817803B; G0800784B; MC_G0901330; G19/2; MC_PC_09003; G0901254; G0901310; G0701075; G0801418B; G0800784 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) Department of Health's NIHR Biomedical Research Centres; National Institutes of Health Research (NIHR) Department of Health through National Institute for Health Research to Moor-fields Eye Hospital NHS Foundation Trust UCL Institute of Ophthalmology for a Specialist Biomedical Research Centre for Ophthalmology JDRF; Juvenile Diabetes Research Foundation ART-PPG2011A-14 / Alzheimers Research UK; Alzheimer's Research UK (ARUK) G0000934; G0800784; MC_G0901330; G19/2; MC_G1000735; MC_PC_09003; G0901254; G0700943; G0901310; G0701075 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) J-0804; G-0907 / Parkinson's UK G0000934; G0700943 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) NF-SI-0509-10011; NF-SI-0507-10379; PDA/02/06/016 / National Institute for Health Research; National Institutes of Health Research (NIHR)
Identifiers: 9935670808331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article