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

Spencer, C. C., Plagnol, V., Strange, A., Gardner, M., Paisan-Ruiz, C., Band, G., Barker, R. A., Bellenguez, C., Bhatia, K., Blackburn, H., Blackwell, J. M., Bramon, E., Brown, M. A., Brown, Matthew A, Burn, D., Casas, J. P., Chinnery, P. F., Clarke, C. E., 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, A. J., Markus, H. S., Mathew, C. G., McCarthy, M. I., Morrison, K. E., Palmer, C. N., Pearson, J. P., Peltonen, L., Pirinen, M., Plomin, R., Potter, S., Rautanen, A., Sawcer, S. J., Su, Z., Trembath, R. C., Viswanathan, A. C., Williams, N. W., Morris, H. R., Donnelly, P., & Wood, N. W. (2011) Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Human Molecular Genetics, 20(2), pp. 345-353.

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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. © The Author 2010. Published by Oxford University Press.

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ID Code: 89356
Item Type: Journal Article
Refereed: Yes
Additional Information: Cited By :108
Export Date: 21 September 2015
Correspondence Address: Wood, N.W.; UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom; email: n.wood@ucl.ion.ac.uk
Keywords: adult, aged, article, chromosome 17q, cohort analysis, controlled study, female, France, gene replication, genetic association, genetic variability, haplotype, human, major clinical study, male, onset age, Parkinson disease, priority journal, promoter region, risk factor, single nucleotide polymorphism, United Kingdom, Age of Onset, alpha-Synuclein, Case-Control Studies, Chromosomes, Human, Pair 17, European Continental Ancestry Group, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Polymorphism, Single Nucleotide, Sample Size
DOI: 10.1093/hmg/ddq469
ISSN: 0964-6906
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 21 Oct 2015 02:38
Last Modified: 26 Feb 2016 05:52

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