Spencer, CCA and Plagnol, V and Strange, A and Gardner, M and Paisan-Ruiz, C and Band, G and Barker, RA and Bellenguez, C and Bhatia, K and Blackburn, H and Blackwell, JM and Bramon, E and Brown, MA and Brown, MA and Burn, D and Casas, JP and Chinnery, PF and Clarke, CE and Corvin, A and Craddock, N and Deloukas, P and Edkins, S and Evans, J and Freeman, C and Gray, E and Hardy, J and Hudson, G and Hunt, S and Jankowski, J and Langford, C and Lees, AJ and Markus, HS and Mathew, CG and McCarthy, MI and Morrison, KE and Palmer, CNA and Pearson, JP and Peltonen, L and Pirinen, M and Plomin, R and Potter, S and Rautanen, A and Sawcer, SJ and Su, Z and Trembath, RC and Viswanathan, AC and Williams, NW and Morris, HR and Donnelly, P and Wood, NW and UK Parkinson's Dis Consortium, and Wellcome Trust Case Control Consor, (2011) Dissection of the genetics of Parkinson's disease identifies an additional association 5 ' of SNCA and multiple associated haplotypes at 17q21. HUM MOL GENET , 20 (2) 345 - 353. 10.1093/hmg/ddq469.
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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.
|Title:||Dissection of the genetics of Parkinson's disease identifies an additional association 5 ' of SNCA and multiple associated haplotypes at 17q21|
|Keywords:||GENOME-WIDE ASSOCIATION, PROGRESSIVE SUPRANUCLEAR PALSY, RISK-FACTORS, TAU, REGION, INVERSION|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience|
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Motor Neuroscience and Movement Disorders
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > RLW Institute of Neurological Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
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