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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.

Original publication

DOI

10.1093/hmg/ddq469

Type

Journal article

Journal

Hum Mol Genet

Publication Date

15/01/2011

Volume

20

Pages

345 - 353

Keywords

Age of Onset, Case-Control Studies, Chromosomes, Human, Pair 17, European Continental Ancestry Group, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Parkinson Disease, Polymorphism, Single Nucleotide, Sample Size, alpha-Synuclein