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Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease
Oslo University Hospital, Norway .
Umeå University, Sweden .
Drammen Hospital, Norway .
Östergötlands Läns Landsting, Centre for Diagnostics, Department of Clinical Chemistry.
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2013 (English)In: Neurobiology of Aging, ISSN 0197-4580, E-ISSN 1558-1497, Vol. 34, no 6, 1708.e7-1708.e13 p.Article in journal (Refereed) Published
Abstract [en]

Genome-wide association studies have identified a number of susceptibility loci in sporadic Parkinsons disease (PD). Recent larger studies and meta-analyses have greatly expanded the list of proposed association signals. We performed a case-control replication study in a Scandinavian population, analyzing samples from 1345 unrelated PD patients and 1225 control subjects collected by collaborating centers in Norway and Sweden. Single-nucleotide polymorphisms representing 18 loci previously reported at genome-wide significance levels were genotyped, as well as 4 near-significant, suggestive, loci. We replicated 11 association signals at p andlt; 0.05 (SNCA, STK39, MAPT, GPNMB, CCDC62/HIP1R, SYT11, GAK, STX1B, MCCC1/LAMP3, ACMSD, and FGF20). The more recently nominated susceptibility loci were well represented among our positive findings, including 3 which have not previously been validated in independent studies. Conversely, some of the more well-established loci failed to replicate. While future meta-analyses should corroborate disease associations further on the level of common markers, efforts to pinpoint functional variants and understand the biological implications of each risk locus in PD are also warranted.

Place, publisher, year, edition, pages
Elsevier, 2013. Vol. 34, no 6, 1708.e7-1708.e13 p.
Keyword [en]
Parkinsons disease, GWAS, Genetic association study, Single-nucleotide polymorphism
National Category
Engineering and Technology
URN: urn:nbn:se:liu:diva-92688DOI: 10.1016/j.neurobiolaging.2012.10.019ISI: 000317417100022OAI: diva2:621679
Available from: 2013-05-16 Created: 2013-05-16 Last updated: 2013-05-30Bibliographically approved

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Dizdar, Nil
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Department of Clinical Chemistry
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