{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Schilder BM"],"funding":["US National Institutes of Health","NIA NIH HHS","Michael J. Fox Foundation","Medical Research Council","NINDS NIH HHS"],"pagination":["888-900"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8947317"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(6)"],"pubmed_abstract":["Recent genome-wide association studies have identified 78 loci associated with Parkinson's disease susceptibility but the underlying mechanisms remain largely unclear. To identify likely causal variants for disease risk, we fine-mapped these Parkinson's-associated loci using four different fine-mapping methods. We then integrated multi-assay cell type-specific epigenomic profiles to pinpoint the likely mechanism of action of each variant, allowing us to identify Consensus single nucleotide polymorphism (SNPs) that disrupt LRRK2 and FCGR2A regulatory elements in microglia, an MBNL2 enhancer in oligodendrocytes, and a DYRK1A enhancer in neurons. This genome-wide functional fine-mapping investigation of Parkinson's disease substantially advances our understanding of the causal mechanisms unde"],"journal":["Human molecular genetics"],"pubmed_title":["Fine-mapping of Parkinson's disease susceptibility loci identifies putative causal variants."],"pmcid":["PMC8947317"],"funding_grant_id":["#14899","R01-NS116006","R01-AG054005","P30 AG066514","U01 NS107016","#16743","U01 NS120256","R01 NS116006"],"pubmed_authors":["Schilder BM","Raj T"],"additional_accession":[]},"is_claimable":false,"name":"Fine-mapping of Parkinson's disease susceptibility loci identifies putative causal variants.","description":"Recent genome-wide association studies have identified 78 loci associated with Parkinson's disease susceptibility but the underlying mechanisms remain largely unclear. To identify likely causal variants for disease risk, we fine-mapped these Parkinson's-associated loci using four different fine-mapping methods. We then integrated multi-assay cell type-specific epigenomic profiles to pinpoint the likely mechanism of action of each variant, allowing us to identify Consensus single nucleotide polymorphism (SNPs) that disrupt LRRK2 and FCGR2A regulatory elements in microglia, an MBNL2 enhancer in oligodendrocytes, and a DYRK1A enhancer in neurons. This genome-wide functional fine-mapping investigation of Parkinson's disease substantially advances our understanding of the causal mechanisms unde","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2026-05-31T21:04:56.258Z","creation":"2025-04-07T00:05:52.939Z"},"accession":"S-EPMC8947317","cross_references":{"pubmed":["34617105"],"doi":["10.1093/hmg/ddab294"]}}