Genomics

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International Genetics of Parkinson Disease Progression (IGPP) Consortium GWAS Summary Results

ABSTRACT: To characterize how genetic variation influences the progression of Parkinson’s disease to dementia, which is a major determinant for quality of life, we performed a longitudinal genome-wide survival study (GWSS). Risk profile analysis was performed with a novel polygenic hazard score in longitudinal cohorts in the International Genetics of Parkinson Disease Progression (IGPP) Consortium.

PROVIDER: EGAS00001005110 | EGA |

REPOSITORIES: EGA

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Publications

Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.

Liu Ganqiang G   Peng Jiajie J   Liao Zhixiang Z   Locascio Joseph J JJ   Corvol Jean-Christophe JC   Zhu Frank F   Dong Xianjun X   Maple-Grødem Jodi J   Campbell Meghan C MC   Elbaz Alexis A   Lesage Suzanne S   Brice Alexis A   Mangone Graziella G   Growdon John H JH   Hung Albert Y AY   Schwarzschild Michael A MA   Hayes Michael T MT   Wills Anne-Marie AM   Herrington Todd M TM   Ravina Bernard B   Shoulson Ira I   Taba Pille P   Kõks Sulev S   Beach Thomas G TG   Cormier-Dequaire Florence F   Alves Guido G   Tysnes Ole-Bjørn OB   Perlmutter Joel S JS   Heutink Peter P   Amr Sami S SS   van Hilten Jacobus J JJ   Kasten Meike M   Mollenhauer Brit B   Trenkwalder Claudia C   Klein Christine C   Barker Roger A RA   Williams-Gray Caroline H CH   Marinus Johan J   Scherzer Clemens R CR  

Nature genetics 20210506 6

A key driver of patients' well-being and clinical trials for Parkinson's disease (PD) is the course that the disease takes over time (progression and prognosis). To assess how genetic variation influences the progression of PD over time to dementia, a major determinant for quality of life, we performed a longitudinal genome-wide survival study of 11.2 million variants in 3,821 patients with PD over 31,053 visits. We discover RIMS2 as a progression locus and confirm this in a replicate population  ...[more]

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