1. Repository of OAI
  2. ΑΠΟΘΕΤΗΡΙΟ "ΟΛΥΜΠΙΑΣ"
  3. Σχολή Επιστημών Υγείας
  4. Τμήμα Ιατρικής
  5. Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ
Ελληνικά   English  
Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/18509
Full metadata record
DC FieldValueLanguage
dc.contributor.authorSharma, M.en
dc.contributor.authorMaraganore, D. M.en
dc.contributor.authorIoannidis, J. P.en
dc.contributor.authorRiess, O.en
dc.contributor.authorAasly, J. O.en
dc.contributor.authorAnnesi, G.en
dc.contributor.authorAbahuni, N.en
dc.contributor.authorBentivoglio, A. R.en
dc.contributor.authorBrice, A.en
dc.contributor.authorVan Broeckhoven, C.en
dc.contributor.authorChartier-Harlin, M. C.en
dc.contributor.authorDestee, A.en
dc.contributor.authorDjarmati, A.en
dc.contributor.authorElbaz, A.en
dc.contributor.authorFarrer, M.en
dc.contributor.authorFerrarese, C.en
dc.contributor.authorGibson, J. M.en
dc.contributor.authorGispert, S.en
dc.contributor.authorHattori, N.en
dc.contributor.authorJasinska-Myga, B.en
dc.contributor.authorKlein, C.en
dc.contributor.authorLesage, S.en
dc.contributor.authorLynch, T.en
dc.contributor.authorLichtner, P.en
dc.contributor.authorLambert, J. C.en
dc.contributor.authorLang, A. E.en
dc.contributor.authorMellick, G. D.en
dc.contributor.authorDe Nigris, F.en
dc.contributor.authorOpala, G.en
dc.contributor.authorQuattrone, A.en
dc.contributor.authorRiva, C.en
dc.contributor.authorRogaeva, E.en
dc.contributor.authorRoss, O. A.en
dc.contributor.authorSatake, W.en
dc.contributor.authorSilburn, P. A.en
dc.contributor.authorTheuns, J.en
dc.contributor.authorToda, T.en
dc.contributor.authorTomiyama, H.en
dc.contributor.authorUitti, R. J.en
dc.contributor.authorWirdefeldt, K.en
dc.contributor.authorWszolek, Z.en
dc.contributor.authorGasser, T.en
dc.contributor.authorKruger, R.en
dc.date.accessioned2015-11-24T18:53:10Z-
dc.date.available2015-11-24T18:53:10Z-
dc.identifier.issn1558-1497-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/18509-
dc.rightsDefault Licence-
dc.subjectAlcohol Oxidoreductases/*geneticsen
dc.subjectGenetic Association Studiesen
dc.subjectGenetic Loci/*geneticsen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenotypeen
dc.subjectHumansen
dc.subjectParkinson Disease/*geneticsen
dc.subjectPolymorphism, Single Nucleotideen
dc.subjectPromoter Regions, Geneticen
dc.titleRole of sepiapterin reductase gene at the PARK3 locus in Parkinson's diseaseen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.primary10.1016/j.neurobiolaging.2011.05.024-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/21782285-
heal.identifier.secondaryhttp://ac.els-cdn.com/S0197458011002089/1-s2.0-S0197458011002089-main.pdf?_tid=3e842ac4b7511152dcf985037f828a05&acdnat=1333363327_3326c7d73c70349438798c2c46b97356-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2011-
heal.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. 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.en
heal.journalNameNeurobiol Agingen
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ

Show simple item record
Files in This Item:
File Description SizeFormat 
Sharma-2011-Role of sepiapterin.pdf376.02 kBAdobe PDFView/Open    Request a copy
Show simple item record  


This item is licensed under a Creative Commons License Creative Commons