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Brockmann, K.* ; Schulte, C.* ; Hauser, A.K.* ; Lichtner, P. ; Huber, H.* ; Maetzler, W.* ; Berg, D.* ; Gasser, T.*

SNCA: Major genetic modifier of age at onset of Parkinson's disease.

Mov. Disord. 28, 1217-1221 (2013)
DOI PMC
Age at onset serves as a predictor of progression and mortality in sporadic Parkinson's disease (PD). Therefore, the identification of genetic modifiers for age at onset might lead to a better understanding of disease pathogenesis. We performed multivariate linear regression analysis in 1396 sporadic PD patients assessing 21 single-nucleotide polymorphisms (SNPs) that have been previously suggested to be associated with sporadic PD. Moreover, a cumulative risk score was assigned to each patient and correlated with age at onset. We identified the rs356219 risk allele in the SNCA gene as significantly contributing to earlier age at onset. Neither one of the other 21 SNPs tested in this analysis nor the cumulative number of risk alleles showed a significant impact on PD onset. Because sequence variants in the SNCA gene are not only associated with autosomal dominantly inherited PD and increased susceptibility for sporadic PD but also have been found to modify the phenotype such as age at onset in both sporadic and various monogenic forms of PD, this gene serves as an outstanding target for further research on PD pathogenesis, which in return might provide potential therapeutic options.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Parkinson's Disease ; Snca ; Genetics ; Age At Onset; Alpha-synuclein ; Dopaminergic-neurons ; Neurotrophic Factor ; Association ; Variants ; Bdnf ; Mutation ; Polymorphisms ; Population ; Variability
Sprache englisch
Veröffentlichungsjahr 2013
HGF-Berichtsjahr 2013
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Zeitschrift Movement Disorders
Quellenangaben Band: 28, Heft: 9, Seiten: 1217-1221 Artikelnummer: , Supplement: ,
Verlag Wiley
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
PubMed ID 23674386
DOI 10.1002/mds.25469
WOS ID WOS:000323830100014
Scopus ID 84883557700
Erfassungsdatum 2013-07-30
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