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• W1886005575 abstract "OBJECTIVE:To minimize pathological heterogeneity in genetic association studies of Parkinson Disease (PD).BACKGROUND:Studies have shown that patients diagnosed with PD can have differing diagnoses at autopsy. This suggests that genetic and pathological heterogeneity could affect efforts to identify genetic variants associated with PD. Fourteen centers founded the Autopsy-confirmed Parkinson Disease Genetics Consortium (APDGC) to perform genome-wide association study (GWAS) studies in neuropathologically-confirmed PD cases and controls.DESIGN/METHODS:484 neuropathologically-confirmed PD patients and 1145 neuropathologically-confirmed controls were used for the association analysis. Genotyping results were then imputed to 3,922,209 variants for the final analysis.RESULTS:A region on chromosome 1 was strongly associated with PD (peak single nucleotide polymorphism (SNP) rs10788972; p=6.2x10-8). The association peak lies within the PARK10 locus. rs10788972 is in strong LD with rs914722, a SNP in the PARK10 locus previously shown to be significantly associated with age-of-onset in PD. We reduced the PARK10 candidate region by 100 fold to 100 kilobases. Genetic association was also observed with the SNCA and MAPT, genes previously shown to be significantly associated in studies using clinically defined PD cases and controls.CONCLUSIONS:We confirm the association of a PARK10 haplotype with the risk of developing PD. Further, we significantly reduce the size of the PARK10 candidate region. None of the candidate genes in the new PARK10 region have been previously implicated in the biology of PD, suggesting new areas of potential research. This study illustrates the utility of reducing heterogeneity through carefully defined, neuropathologically-confirmed diagnoses; such efforts can enhance the application of genetic association studies to PD.Study Supported by: Study supported by grants from NINDS and NIA. Disclosure: Athena diagnostics, royalty CMT2A gene, received through Duke University., Dr. Beecham has nothing to disclose. Dr. Dickson has nothing to disclose. Dr. Scott has nothing to disclose. Dr. Schellenberg has nothing to disclose. Dr. Nuytemans has nothing to disclose. Dr. Larson has received royalty payments from UpToDate. Dr. Buxbaum has nothing to disclose. Dr. Trojanowski has received personal compensation for activities with Johnson & Johnson. Dr. Van Deerlin has nothing to disclose. Dr. Hurtig has received personal compensation in an editorial capacity for UpToDate. Dr. Mash has nothing to disclose. Dr. Beach has received personal compensation for activities with GE Healthcare. Dr. Troncoso has nothing to disclose. Dr. Pletnikova has nothing to disclose. Dr. Frosch has received royalty payments from Elsevier. Dr. Ghetti has received personal compensation for activities with Bayer Schering Pharma. Dr. Foroud has nothing to disclose. Dr. Honig has received personal compensation for activities with Johnson & Johnson/Janssen and Eli Lilly & Co. as a consultant and/or a scientific advisory board member. Dr. Marder has received personal compensation in an editorial capacity for Current Neuroscience. Dr. Vonsattel has nothing to disclose. Dr. Goldman has nothing to disclose. Dr. Vinters has nothing to disclose. Dr. Ross has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Parkinsonism & Related Disorders and the European Journal of Neurology. Dr. Wang has nothing to disclose. Dr. Dykxhoorn has nothing to disclose. Dr. Pericak-Vance received personal compensation from University of Alaska for serving on their Scientific Advisory Board., Dr. Montine has nothing to disclose. Dr. Leverenz has received personal compensation for activities with Boehringer Ingelheim Pharmaceuticals, Citigroup, Navidea Biopharmaceuticals, and Piramal Group as a consultant. Dr. Dawson has nothing to disclose. Dr. Martin has nothing to disclose." @default.
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• W1886005575 date "2015-04-06" @default.
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• W1886005575 title "Association Studies of Neuropathologically-Confirmed Cases and Controls Reveals that the PARK10 Locus is a Major Contributor to Sporadic Parkinson disease. (S7.005)" @default.
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