Genetic risk factors in Finnish patients with Parkinson's disease

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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 .

Titel: Genetic risk factors in Finnish patients with Parkinson's disease
Författare: Ylönen, Susanna; Siitonen, Ari; Nalls, Michael A.; Ylikotila, Pauli; Autere, Jaana; Eerola-Rautio, Johanna; Gibbs, Raphael; Hiltunen, Mikko; Tienari, Pentti Juhani; Soininen, Hilkka; Singleton, Andrew B.; Majamaa, Kari
Upphovmannens organisation: Pentti Tienari / Principal Investigator
Department of Neurosciences
Neurologian yksikkö
Research Programme for Molecular Neurology
Research Programs Unit
University of Helsinki
HUS Neurocenter
Datum: 2017-09-29
Språk: eng
Tillhör serie: Parkinsonism & Related Disorders
ISSN: 1353-8020
Permanenta länken (URI):
Abstrakt: 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.
Subject: 3112 Neurosciences
3124 Neurology and psychiatry
3111 Biomedicine
1184 Genetics, developmental biology, physiology
Referentgranskad: Ja
Användningsbegränsning: openAccess
Parallelpublicerad version: publishedVersion

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