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dc.contributor.authorSharma, Manu
dc.contributor.authorMaraganore, Demetrius M
dc.contributor.authorIoannidis, John PA
dc.contributor.authorRiess, Olaf
dc.contributor.authorAasly, Jan O
dc.contributor.authorAnnesi, Grazia
dc.contributor.authorAbahuni, Nadine
dc.contributor.authorBentivoglio, Anna Rita
dc.contributor.authorBrice, Alexis
dc.contributor.authorVan Broeckhoven, Christine
dc.contributor.authorChartier-Harlin, Marie-Christine
dc.contributor.authorDestee, Alain
dc.contributor.authorDjarmati, Ana
dc.contributor.authorElbaz, Alexis
dc.contributor.authorFarrer, Matthew
dc.contributor.authorFerrarese, Carlo
dc.contributor.authorGibson, J Mark
dc.contributor.authorGispert, Suzana
dc.contributor.authorHattori, Nobutaka
dc.contributor.authorJasinska-Myga, Barbara
dc.contributor.authorKlein, Christine
dc.contributor.authorLesage, Suzanne
dc.contributor.authorLynch, Timothy
dc.contributor.authorLichtner, Peter
dc.contributor.authorLambert, Jean-Charles
dc.contributor.authorLang, Anthony E
dc.contributor.authorMellick, George D
dc.contributor.authorDe Nigris, Francesa
dc.contributor.authorOpala, Grzegorz
dc.contributor.authorQuattrone, Aldo
dc.contributor.authorRiva, Chiara
dc.contributor.authorRogaeva, Ekaterina
dc.contributor.authorRoss, Owen A
dc.contributor.authorSatake, Wataru
dc.contributor.authorSilburn, Peter A
dc.contributor.authorTheuns, Jessie
dc.contributor.authorToda, Tatsushi
dc.contributor.authorTomiyama, Hiroyuki
dc.contributor.authorUitti, Ryan J
dc.contributor.authorWirdefeldt, Karin
dc.contributor.authorWszolek, Zbigniew
dc.contributor.authorGasser, Thomas
dc.contributor.authorKrueger, Rejko
dc.description.abstractSepiapterin 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. I2 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.
dc.publisher.placeUnited States
dc.relation.ispartofjournalNeurobiology of Aging
dc.subject.fieldofresearchNeurology and Neuromuscular Diseases
dc.subject.fieldofresearchClinical Sciences
dc.titleRole of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.hasfulltextNo Full Text
gro.griffith.authorSilburn, Peter A.
gro.griffith.authorMellick, George

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