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Sharma, M.* ; Maraganore, D.M.* ; Ioannidis, J.P.* ; Riess, O.* ; Aasly, J.O.* ; Annesi, G.* ; Abahuni, N.* ; Bentivoglio, A.R.* ; Brice, A.* ; van Broeckhoven, C.* ; Chartier-Harlin, M.C.* ; Destée, A.* ; Djarmati, A.* ; Elbaz, A.* ; Farrer, M.* ; Ferrarese, C.* ; Gibson, J.M.* ; Gispert, S.* ; Hattori, N.* ; Jasinska-Myga, B.* ; Klein, C.* ; Lesage, S.* ; Lynch, T.* ; Lichtner, P. ; Lambert, J.C.* ; Lang, A.E.* ; Mellick, G.D.* ; de Nigris, F.* ; Opala, G. ; Quattrone, A.* ; Riva, C.* ; Rogaeva, E.* ; Ross, O.A.* ; Satake, W.* ; Silburn, P.A.* ; Theuns, J.* ; Toda, T.* ; Tomiyama, H.* ; Uitti, R.J.* ; Wirdefeldt, K.* ; Wszolek, Z.* ; Gasser, T.* ; Krüger, R* ; Genetic Epidemiology of Parkinson's Disease Consortium (*)

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.

Neurobiol. Aging 32, 2108.e1-2108.e5 (2011)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Sepiapterin reductase (SPR) gene is an enzyme which catalyses the final step of tetrahydrobiopterin synthesis (BH4) and was implicated in Parkinson's disease (PD) pathogenesis as a candidate gene for PARK3 locus. A number of studies yielded association of the PARK3 locus with PD, and SPR knockout mice were shown to display parkinsonian features. To evaluate the role of SPR gene polymorphisms in diverse populations in PD, we performed collaborative analyses in the Genetic Epidemiology of Parkinson Disease (GEO-PD) Consortium. A total of 5 single nucleotide polymorphisms (3 in the promoter region and 2 in the 3' untranslated region [UTR]) were genotyped. Fixed as well as random effect models were used to provide summary risk estimates of SPR variants. A total of 19 sites provided data for 6547 cases and 9321 controls. Overall odds ratio estimates varied from 0.92 to 1.01. No overall association with the SPR gene using either fixed effect or random effect model was observed in the studied population. I(2) Metric varied from 0% to 36.2%. There was some evidence for an association for participants of North European/Scandinavian descent with the strongest signal for rs1876487 (odds ratio = 0.82; p value = 0.003). Interestingly, families which were used to map the PARK3 locus, have Scandinavian ancestry suggesting a founder effect. In conclusion, this large association study for the SPR gene revealed no association for PD worldwide. However, taking the initial mapping of the PARK3 into account, the role of a population-specific effect warrants consideration in future studies.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Parkinson disease; SPR; PARK3; PD genetic studies; PD-GWAS
Language english
Publication Year 2011
HGF-reported in Year 2011
ISSN (print) / ISBN 0197-4580
e-ISSN 1558-1497
Journal Neurobiology of Aging
Quellenangaben Volume: 32, Issue: 11, Pages: 2108.e1-2108.e5 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place New York, NY [u.a.]
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
PubMed ID 21782285
DOI 10.1016/j.neurobiolaging.2011.05.024
Scopus ID 80052624072
Erfassungsdatum 2011-12-02
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