{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["147(6)"],"submitter":["Kmiecik MJ"],"funding":["Parkinson's Research","Michael J. Fox Foundation for Parkinson's Research","Michael J. Fox Foundation for Parkinson's Research"],"pubmed_abstract":["The LRRK2 G2019S variant is the most common cause of monogenic Parkinson's disease (PD); however, questions remain regarding the penetrance, clinical phenotype and natural history of carriers. We performed a 3.5-year prospective longitudinal online study in a large number of 1286 genotyped LRRK2 G2019S carriers and 109 154 controls, with and without PD, recruited from the 23andMe Research Cohort. We collected self-reported motor and non-motor symptoms every 6 months, as well as demographics, family histories and environmental risk factors. Incident cases of PD (phenoconverters) were identified at follow-up. We determined lifetime risk of PD using accelerated failure time modelling and explored the impact of polygenic risk on penetrance. We also computed the genetic ancestry of all LRRK2 G2"],"journal":["Brain : a journal of neurology"],"pagination":["1996-2008"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11146432"],"repository":["biostudies-literature"],"pubmed_title":["Genetic analysis and natural history of Parkinson's disease due to the LRRK2 G2019S variant."],"pmcid":["PMC11146432"],"pubmed_authors":["Shringarpure S","Bowes J","Poznik GD","Freyman W","Tran V","Schumacher M","Weldon CH","Bell RK","Stagaman K","23andMe Research Team","Kukar K","Granka JM","Lowe M","Wang W","Wang X","Hernandez A","Wilton P","Norcliffe-Kaufmann L","Shastri AJ","Nguyen DT","Kwong A","Cannon P","Bielenberg J","Su QJ","Holmes MV","Kmiecik MJ","O'Connell J","Llamas BA","Aslibekyan S","Bryc K","Wetzel M","Eriksson N","Fontanillas P","Rowbotham HM","Heilbron K","Micheletti S","Das S","Lin KH","Selcer L","Hinds DA","Coker D","Shelton JF","Jiang Y","Auton A","DelloRusso E","Wong CD","Moreno ME","Petrakovitz AA","Babalola E","McIntyre MH","Nandakumar P","Reynoso A","Tat SA","Jewett EM","Filshtein Sonmez T","Elson SL","Chaudhary NS","Tung JY","Shi J","Hicks B"],"additional_accession":[]},"is_claimable":false,"name":"Genetic analysis and natural history of Parkinson's disease due to the LRRK2 G2019S variant.","description":"The LRRK2 G2019S variant is the most common cause of monogenic Parkinson's disease (PD); however, questions remain regarding the penetrance, clinical phenotype and natural history of carriers. We performed a 3.5-year prospective longitudinal online study in a large number of 1286 genotyped LRRK2 G2019S carriers and 109 154 controls, with and without PD, recruited from the 23andMe Research Cohort. We collected self-reported motor and non-motor symptoms every 6 months, as well as demographics, family histories and environmental risk factors. Incident cases of PD (phenoconverters) were identified at follow-up. We determined lifetime risk of PD using accelerated failure time modelling and explored the impact of polygenic risk on penetrance. We also computed the genetic ancestry of all LRRK2 G2","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jun","modification":"2026-06-03T20:03:51.793Z","creation":"2026-05-01T03:10:42.934Z"},"accession":"S-EPMC11146432","cross_references":{"pubmed":["38804604"],"doi":["10.1093/brain/awae073"]}}