{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["40(1)"],"submitter":["Radefeldt M"],"pubmed_abstract":["<h4>Background</h4>The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).<h4>Objective</h4>The aim was to investigate the presence of RAB32 variants in a large multiethnic group of individuals affected and unaffected by PD.<h4>Methods</h4>We queried our proprietary database that contains exome/genome sequencing data of >180,000 individuals. Additional PD patients were genotyped, and proximal p.Ser71Arg-associated haplotypes were constructed.<h4>Results</h4>p.Ser71Arg was present in 11 PD patients (73% from northern Italy) and in 35 individuals (89% from the Middle East and North Africa [MENA]) aged <50 years without PD-relevant symptoms. It was found in-cis to a set of proximal single-nucleotide polymorphisms. Additional RAB32 variants were comparably frequent "],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pagination":["147-151"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11752972"],"repository":["biostudies-literature"],"pubmed_title":["Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease."],"pmcid":["PMC11752972"],"pubmed_authors":["Paul JJ","Matarazzo M","Lemke S","Curado F","Cerami C","Radefeldt M","Panzavolta A","Chaichoompu K","Hanagasi HA","Beetz C","Valzania F","Westenberger A","Bauer P","Avenali M","Klein C","Thonke S","Valente EM","Cavallieri F","Fioravanti V","Negrotti A"],"additional_accession":[]},"is_claimable":false,"name":"Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.","description":"<h4>Background</h4>The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).<h4>Objective</h4>The aim was to investigate the presence of RAB32 variants in a large multiethnic group of individuals affected and unaffected by PD.<h4>Methods</h4>We queried our proprietary database that contains exome/genome sequencing data of >180,000 individuals. Additional PD patients were genotyped, and proximal p.Ser71Arg-associated haplotypes were constructed.<h4>Results</h4>p.Ser71Arg was present in 11 PD patients (73% from northern Italy) and in 35 individuals (89% from the Middle East and North Africa [MENA]) aged <50 years without PD-relevant symptoms. It was found in-cis to a set of proximal single-nucleotide polymorphisms. Additional RAB32 variants were comparably frequent ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jan","modification":"2026-06-02T20:49:36.745Z","creation":"2025-04-21T16:47:14.955Z"},"accession":"S-EPMC11752972","cross_references":{"pubmed":["39460989"],"doi":["10.1002/mds.30041"]}}