Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease

enome-wide association studies have identified a number of susceptibility loci in sporadic Parkinson's 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 < 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.

Axelsson, G.Umeå universitet,Medicin,Klinisk neurovetenskap (author)
Bjornara, K. A.Drammen Hospital, Norway (author)
Dizdar (Dizdar Segrell), Nil,1960-Region Östergötland, Klinisk kemi(Swepub:liu)nildi39 (author)
Fardell, CamillaGothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology,University of Gothenburg, Sweden(Swepub:gu)xfarca (author)
Forsgren, LarsUmeå universitet,Klinisk neurovetenskap(Swepub:umu)lafo0001 (author)
Holmberg, BjörnGothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology,University of Gothenburg, Sweden(Swepub:gu)xhobjo (author)
Larsen, J. P.Stavanger University Hospital, Norway (author)
Linder, JanUmeå universitet,Klinisk neurovetenskap(Swepub:umu)jali0020 (author)
Nissbrandt, Hans,1952Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology,University of Gothenburg, Sweden(Swepub:gu)xnisha (author)
Tysnes, O. B.Haukeland University Hospital, Bergen, Norway (author)
Ohman, E.Umeå universitet,Medicin,Klinisk neurovetenskap (author)
Dietrichs, E.Oslo University Hospital, Norway (author)
Toft, M.Oslo University Hospital, Norway (author)
Oslo University Hospital, NorwayMedicin (creator_code:org_t)

By the author/editor: Pihlstrom, L.; Axelsson, G.; Bjornara, K. A.; Dizdar (Dizdar S ...; Fardell, Camilla; Forsgren, Lars; show more...; Holmberg, Björn; Larsen, J. P.; Linder, Jan; Nissbrandt, Hans ...; Tysnes, O. B.; Ohman, E.; Dietrichs, E.; Toft, M.; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Geriatrics

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Neurology

By the university: University of Gothenburg; Linköping University; Umeå University

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