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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 .
Region Östergötland, Diagnostikcentrum, Klinisk kemi.
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2013 (Engelska)Ingår i: Neurobiology of Aging, ISSN 0197-4580, E-ISSN 1558-1497, Vol. 34, nr 6, s. 1708.e7-1708.e13Artikel i tidskrift (Refereegranskat) 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.

Ort, förlag, år, upplaga, sidor
Elsevier, 2013. Vol. 34, nr 6, s. 1708.e7-1708.e13
Nyckelord [en]
Parkinsons disease, GWAS, Genetic association study, Single-nucleotide polymorphism
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Teknik och teknologier
Identifikatorer
URN: urn:nbn:se:liu:diva-92688DOI: 10.1016/j.neurobiolaging.2012.10.019ISI: 000317417100022OAI: oai:DiVA.org:liu-92688DiVA, id: diva2:621679
Tillgänglig från: 2013-05-16 Skapad: 2013-05-16 Senast uppdaterad: 2018-01-12Bibliografiskt granskad

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Dizdar (Dizdar Segrell), Nil
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Totalt: 54 träffar
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