{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Phillips B"],"funding":["Alzheimer’s Association","NIA NIH HHS","Alzheimer's Association","Michael J. Fox Foundation for Parkinson’s Research"],"pagination":["107"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10329646"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(1)"],"pubmed_abstract":["Common and rare variants in the LRRK2 locus are associated with Parkinson's disease (PD) risk, but the downstream effects of these variants on protein levels remain unknown. We performed comprehensive proteogenomic analyses using the largest aptamer-based CSF proteomics study to date (7006 aptamers (6138 unique proteins) in 3107 individuals). The dataset comprised six different and independent cohorts (five using the SomaScan7K (ADNI, DIAN, MAP, Barcelona-1 (Pau), and Fundació ACE (Ruiz)) and the PPMI cohort using the SomaScan5K panel). We identified eleven independent SNPs in the LRRK2 locus associated with the levels of 25 proteins as well as PD risk. Of these, only eleven proteins have been previously associated with PD risk (e.g., GRN or GPNMB). Proteome-wide association study (PWAS) a"],"journal":["NPJ Parkinson's disease"],"pubmed_title":["Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson's disease."],"pmcid":["PMC10329646"],"funding_grant_id":["U24 AG021886","ZEN-22-848604","R01 AG044546","P30 AG066444","RF1 AG074007","U01 AG058922","P01 AG026276","U01 AG024904","U19 AG032438","RF1 AG058501","P01 AG003991","RF1 AG053303"],"pubmed_authors":["Fagan AM","Marquie M","Aguilar M","Wang L","Schindler SE","Phillips B","Ibanez L","Puerta R","Perrin RJ","Sung YJ","Alvarez I","Timsina J","Nykanen NP","Garcia-Gonzalez P","Pastor P","de Rojas I","Do A","Western D","Sun Y","Yang C","Morris JC","Cruchaga C","Gorijala P","Boada M","Perlmutter JS","Ruiz A","Dominantly Inherited Alzheimer Network (DIAN) Consortia"],"additional_accession":[]},"is_claimable":false,"name":"Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson's disease.","description":"Common and rare variants in the LRRK2 locus are associated with Parkinson's disease (PD) risk, but the downstream effects of these variants on protein levels remain unknown. We performed comprehensive proteogenomic analyses using the largest aptamer-based CSF proteomics study to date (7006 aptamers (6138 unique proteins) in 3107 individuals). The dataset comprised six different and independent cohorts (five using the SomaScan7K (ADNI, DIAN, MAP, Barcelona-1 (Pau), and Fundació ACE (Ruiz)) and the PPMI cohort using the SomaScan5K panel). We identified eleven independent SNPs in the LRRK2 locus associated with the levels of 25 proteins as well as PD risk. Of these, only eleven proteins have been previously associated with PD risk (e.g., GRN or GPNMB). Proteome-wide association study (PWAS) a","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jul","modification":"2026-05-29T17:41:18.976Z","creation":"2025-04-05T23:19:58.991Z"},"accession":"S-EPMC10329646","cross_references":{"pubmed":["37422510"],"doi":["10.1038/s41531-023-00555-4"]}}