{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001007060"],"sample_count":["1"],"description":["EGA dataset EGAD00001007060"],"repository":["EGA"],"title":["IGPP Consortium GWSS Summary Results Data"],"pubmed_abstract":["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 (hazard ratio (HR) = 4.77, P = 2.78 × 10<sup>-11</sup>), identify suggestive evidence for TMEM108 (HR = 2.86, P = 2.09 × 10<sup>-8</sup>) and WWOX (HR = 2.12, P = 2.37 × 10<sup>-8</sup>) as progression loci, and confirm associations for GBA (HR = 1.93, P = 0.0002) and APOE (HR = 1.48, P = 0.001). Polygenic progression scores exhibit a substantial aggregate association with dementia risk, while polygenic susceptibility scores are not predictive. This study identifies a novel synaptic locus and polygenic score for cognitive disease progression in PD and proposes diverging genetic architectures of progression and susceptibility."],"pubmed_title":["Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."],"pubmed_authors":["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"],"additional_accession":[]},"is_claimable":false,"name":"8f81ce09-cd65-468c-a27a-d4f4863b24c4 - samples","description":"The data are the aggregate results from an IGPP Consortium genome-wide survival study, showing overall risk for Parkinson disease progression associated with each variant in a longitudinal cohort study. 11.2 million deeply imputed variants in 3,821 PD patients\nwho were prospectively tracked with 36,123 visits over a median of 6.7 years from disease onset (inter-quartile range, 4.2 years) were analyzed. Data include hazard ratio, SNP ID, and P value.","dates":{"updated":"2021-05-20 12:47:34"},"accession":"EGAD00001007060","cross_references":{"TAXONOMY":["9606"],"pubmed":["33958783"],"EGA":["EGAC00001002012","EGAS00001005110"]}}