Journal
HUMAN MOLECULAR GENETICS
Volume 20, Issue 2, Pages 345-353Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddq469
Keywords
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Funding
- Medical Research Council [G0000934, G0700943]
- Wellcome Trust [068545/Z/02, 084747, 083948]
- Parkinson's UK (formerly The PD society) [J-0804]
- Department of Health's NIHR Biomedical Research Centres
- 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
- Alzheimers Research UK [ART-PPG2011A-14] Funding Source: researchfish
- Medical Research Council [G0901310, G0701075, MC_PC_09003, G19/2, MC_G0901330, G0800784B, G9817803B, G0901254, G0700943, MC_G1000735, G0800784, G0801418B, G0000934] Funding Source: researchfish
- National Institute for Health Research [PDA/02/06/016, NF-SI-0507-10379, NF-SI-0509-10011] Funding Source: researchfish
- Parkinson's UK [J-0804, G-0907] Funding Source: researchfish
- MRC [G0901310, G0700943, G0901254, MC_PC_09003, MC_G1000735, G19/2, G0000934, G0800784, MC_G0901330, G0701075] Funding Source: UKRI
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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.
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