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Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease.
Neurobiol Aging. 2013 Jun; 34(6):1708.e7-13.NA

Abstract

Genome-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.

Authors+Show Affiliations

Department of Neurology, Oslo University Hospital, Oslo, Norway. lasse.pihlstrom@ous-hf.noNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23153929

Citation

Pihlstrøm, Lasse, et al. "Supportive Evidence for 11 Loci From Genome-wide Association Studies in Parkinson's Disease." Neurobiology of Aging, vol. 34, no. 6, 2013, pp. 1708.e7-13.
Pihlstrøm L, Axelsson G, Bjørnarå KA, et al. Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease. Neurobiol Aging. 2013;34(6):1708.e7-13.
Pihlstrøm, L., Axelsson, G., Bjørnarå, K. A., Dizdar, N., Fardell, C., Forsgren, L., Holmberg, B., Larsen, J. P., Linder, J., Nissbrandt, H., Tysnes, O. B., Ohman, E., Dietrichs, E., & Toft, M. (2013). Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease. Neurobiology of Aging, 34(6), e7-13. https://doi.org/10.1016/j.neurobiolaging.2012.10.019
Pihlstrøm L, et al. Supportive Evidence for 11 Loci From Genome-wide Association Studies in Parkinson's Disease. Neurobiol Aging. 2013;34(6):1708.e7-13. PubMed PMID: 23153929.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease. AU - Pihlstrøm,Lasse, AU - Axelsson,Gunnar, AU - Bjørnarå,Kari Anne, AU - Dizdar,Nil, AU - Fardell,Camilla, AU - Forsgren,Lars, AU - Holmberg,Björn, AU - Larsen,Jan Petter, AU - Linder,Jan, AU - Nissbrandt,Hans, AU - Tysnes,Ole-Bjørn, AU - Ohman,Eilert, AU - Dietrichs,Espen, AU - Toft,Mathias, Y1 - 2012/11/13/ PY - 2012/06/04/received PY - 2012/07/31/revised PY - 2012/10/20/accepted PY - 2012/11/17/entrez PY - 2012/11/17/pubmed PY - 2013/12/16/medline SP - 1708.e7 EP - 13 JF - Neurobiology of aging JO - Neurobiol Aging VL - 34 IS - 6 N2 - Genome-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. SN - 1558-1497 UR - https://www.unboundmedicine.com/medline/citation/23153929/Supportive_evidence_for_11_loci_from_genome_wide_association_studies_in_Parkinson's_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0197-4580(12)00530-1 DB - PRIME DP - Unbound Medicine ER -