Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21
Year: 2010
Type: article
Study design: Observational Study
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.
Source: Human Molecular Genetics
DOI: 10.1093/hmg/ddq469
Authors: C. C. A. Spencer, V. Plagnol, A. Strange, M. Gardner, C. Paisan-Ruiz, G. Band, R. A. Barker, C. Bellenguez, K. Bhatia, H. Blackburn, J. M. Blackwell, E. Bramon, M. A. Brown, M. A. Brown, D. Burn, J.-P. Casas, P. F. Chinnery, C. E. Clarke, A. Corvin, N. Craddock, P. Deloukas, S. Edkins, J. Evans, C. Freeman, E. Gray, J. Hardy, G. Hudson, S. Hunt, J. Jankowski, C. Langford, A. J. Lees, H. S. Markus, C. G. Mathew, M. I. McCarthy, K. E. Morrison, C. N. A. Palmer, J. P. Pearson, L. Peltonen, M. Pirinen, R. Plomin, S. Potter, A. Rautanen, S. J. Sawcer, Z. Su, R. C. Trembath, A. C. Viswanathan, N. W. Williams, H. R. Morris, P. Donnelly, N. W. Wood
Institutions: University of Oxford, University College London, University of Cambridge, The University of Western Australia, King's College London, Newcastle University, University of London, University of Birmingham, Trinity College Dublin, Cardiff University, Queen Mary University of London, Wellcome Sanger Institute, Centre for Human Genetics, Moorfields Eye Hospital NHS Foundation Trust, University Hospital of Wales
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,390
Awards: G1137313802, G3327757157, G3349769430, G3371942009, G3543569868, G4265316335, G5502349062, G5568298347, NIHR Senior Investigator Award, G6720140889, G7310981802, NIHR Senior Investigator Award, A systematic investigation into the pathogenesis and course of Parkinson's syndrome., WTCCC Part Two
OpenAlex ID: W2116626531