Genetic risk factors in Finnish patients with Parkinson's disease

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dc.contributor.author Ylönen, Susanna
dc.contributor.author Siitonen, Ari
dc.contributor.author Nalls, Michael A.
dc.contributor.author Ylikotila, Pauli
dc.contributor.author Autere, Jaana
dc.contributor.author Eerola-Rautio, Johanna
dc.contributor.author Gibbs, Raphael
dc.contributor.author Hiltunen, Mikko
dc.contributor.author Tienari, Pentti Juhani
dc.contributor.author Soininen, Hilkka
dc.contributor.author Singleton, Andrew B.
dc.contributor.author Majamaa, Kari
dc.date.accessioned 2019-01-25T22:36:30Z
dc.date.available 2021-12-17T22:02:54Z
dc.date.issued 2017-09-29
dc.identifier.citation Ylönen , S , Siitonen , A , Nalls , M A , Ylikotila , P , Autere , J , Eerola-Rautio , J , Gibbs , R , Hiltunen , M , Tienari , P J , Soininen , H , Singleton , A B & Majamaa , K 2017 , ' Genetic risk factors in Finnish patients with Parkinson's disease ' , Parkinsonism & Related Disorders . https://doi.org/10.1016/j.parkreldis.2017.09.021
dc.identifier.other PURE: 97456026
dc.identifier.other PURE UUID: 4190f712-f2f6-4c1c-bc71-78caf04a33ab
dc.identifier.other Scopus: 85030781172
dc.identifier.other WOS: 000419811700007
dc.identifier.uri http://hdl.handle.net/10138/298404
dc.description.abstract Introduction Variation contributing to the risk of Parkinson's disease (PD) has been identified in several genes and at several loci including GBA, SMPD1, LRRK2, POLG1, CHCHD10 and MAPT, but the frequencies of risk variants seem to vary according to ethnic background. Our aim was to analyze how variation in these genes contributes to PD in the Finnish population. Methods The subjects consisted of 527 Finnish patients with early-onset PD, 325 patients with late-onset PD and 403 population controls. We screened for known genetic risk variants in GBA, SMPD1, LRRK2, POLG1, CHCHD10 and MAPT. In addition, DNA from 225 patients with early-onset Parkinson's disease was subjected to whole exome sequencing (WES). Results We detected a significant difference in the length variation of the CAG repeat in POLG1 between patients with early-onset PD compared to controls. The p.N370S and p.L444P variants in GBA contributed to a relative risk of 3.8 in early-onset PD and 2.5 in late-onset PD. WES revealed five variants in LRRK2 and SMPD1 that were found in the patients but not in the Finnish ExAC sequences. These are possible risk variants that require further confirmation. The p.G2019S variant in LRRK2, common in North African Arabs and Ashkenazi Jews, was not detected in any of the 849 PD patients. Conclusions The POLG1 CAG repeat length variation and the GBA p.L444P variant are associated with PD in the Finnish population. en
dc.language.iso eng
dc.relation.ispartof Parkinsonism & Related Disorders
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject 3112 Neurosciences
dc.subject 3124 Neurology and psychiatry
dc.subject 3111 Biomedicine
dc.subject 1184 Genetics, developmental biology, physiology
dc.title Genetic risk factors in Finnish patients with Parkinson's disease en
dc.type Article
dc.contributor.organization Pentti Tienari / Principal Investigator
dc.contributor.organization Department of Neurosciences
dc.contributor.organization Neurologian yksikkö
dc.contributor.organization Research Programme for Molecular Neurology
dc.contributor.organization Research Programs Unit
dc.contributor.organization Clinicum
dc.contributor.organization University of Helsinki
dc.contributor.organization HUS Neurocenter
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1016/j.parkreldis.2017.09.021
dc.relation.issn 1353-8020
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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