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  • von Otter, Malin,1978Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,University of Gothenburg, Sweden (author)

Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease: a multicenter study

  • Article/chapterEnglish2014

Publisher, publication year, extent ...

  • 2014-12-12
  • Springer Science and Business Media LLC,2014
  • electronicrdacarrier

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  • LIBRIS-ID:oai:research.chalmers.se:2d941a9b-b39d-4428-9c25-196394ec44c9
  • https://research.chalmers.se/publication/208363URI
  • https://doi.org/10.1186/s12881-014-0131-4DOI
  • https://gup.ub.gu.se/publication/208363URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-114256URI

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  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • Funding Agencies|Swedish Research Council; Knut and Alice Wallenberg Foundation; Sahlgrenska University Hospital; West Sweden RUN fundings; Edith Jacobsson Foundation; Axel Linders Foundation; Gteborg Medical Society; Swedish Medical Society; Swedish Brain Power; Stiftelsen fr Gamla Tjnarinnor; Swedish Parkinson Foundation; Foundation for Parkinson Research at Linkping University (Stiftelsen fr Parkinsonforskning), Sweden; Gun and Bertil Stohne s Foundation; hln Foundation; Alzheimer s Foundation, Sweden; Assar Gabrielsson Foundation; Swedish Cancer Foundation; Swedish Pain Foundation; Herman and Lilly Schilling Foundation
  • Background: The transcription factor Nrf2, encoded by the NFE2L2 gene, is an important regulator of the cellular protection against oxidative stress. Parkinson s disease is a neurodegenerative disease highly associated with oxidative stress. In a previously published study, we reported associations of NFE2L2 haplotypes with risk and age at onset of idiopathic Parkinson s disease in a Swedish discovery material and a Polish replication material. Here, we have extended the replication study and performed meta-analyses including the Polish material and four new independent European patient-control materials. Furthermore, all SNPs included in the haplotype windows were investigated individually for associations with Parkinson s disease in meta-analyses including all six materials.Methods: Totally 1038 patients and 1600 control subjects were studied. Based on previous NFE2L2 haplotype associations with Parkinson s disease, five NFE2L2 tag SNPs were genotyped by allelic discrimination and three functional NFE2L2 promoter SNPs were genotyped by sequencing. The impact of individual SNPs and haplotypes on risk and age at onset of Parkinson s disease were investigated in each material individually and in meta-analyses of the obtained results.Results: Meta-analyses of NFE2L2 haplotypes showed association of haplotype GAGCAAAA, including the fully functional promoter haplotype AGC, with decreased risk (OR = 0.8 per allele, p = 0.012) and delayed onset (+ 1.1 years per allele, p = 0.048) of Parkinson s disease. These results support the previously observed protective effect of this haplotype in the first study. Further, meta-analyses of the SNPs included in the haplotypes revealed four NFE2L2 SNPs associated with age at onset of Parkinson s disease (rs7557529 G > A, -1.0 years per allele, p = 0.042; rs35652124 A > G, -1.1 years per allele, p = 0.045; rs2886161 A > G, -1.2 years per allele, p = 0.021; rs1806649 G > A, + 1.2 years per allele, p = 0.029). One of these (rs35652124) is a functional SNP located in the NFE2L2 promoter. No individual SNP was associated with risk of Parkinson s disease.Conclusion: Our results support the hypothesis that variation in the NFE2L2 gene, encoding a central protein in the cellular protection against oxidative stress, may contribute to the pathogenesis of Parkinson s disease. Functional studies are now needed to explore these results further.

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  • Bergström, PetraGothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,University of Gothenburg, Sweden(Swepub:gu)xbpeta (author)
  • Quattrone, AldoConsiglo Nazionale Delle Richerche,Universita degli studi Magna Graecia di Catanzaro,Magna Græcia University,Magna Graecia University of Catanzaro, Italy; CNR, Italy (author)
  • De Marco, ElviraConsiglo Nazionale Delle Richerche,CNR, Italy (author)
  • Annesi, GraziaConsiglo Nazionale Delle Richerche,CNR, Italy (author)
  • Söderkvist, PeterÖstergötlands Läns Landsting,Linköpings universitet,Avdelningen för cellbiologi,Hälsouniversitetet,Klinisk patologi och klinisk genetik(Swepub:liu)petso43 (author)
  • Wettinger, StephanieUniversity of Malta,University of Malta, Malta (author)
  • Drozdzik, MarekPomeranian Medical University, Poland (author)
  • Bialecka, MonikaPomeranian Medical University, Poland (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)
  • Klein, ChristineUniversitaet Zu Lübeck,Medical University of Lubeck, Germany (author)
  • Nilsson, Michael,1962Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation,University of Gothenburg, Sweden; University of Newcastle, Australia(Swepub:gu)xnimic (author)
  • Hammarsten, OlaGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine,University of Gothenburg, Sweden(Swepub:gu)xhamol (author)
  • Nilsson, Staffan,1956Gothenburg University,Göteborgs universitet,Institutionen för matematiska vetenskaper, matematisk statistik,Department of Mathematical Sciences, Mathematical Statistics,Chalmers, Sweden(Swepub:gu)xnista (author)
  • Zetterberg, Henrik,1973Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,University of Gothenburg, Sweden; UCL Institute Neurol, England(Swepub:gu)xzethe (author)
  • Göteborgs universitetInstitutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi (creator_code:org_t)

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  • In:BMC Medical Genetics: Springer Science and Business Media LLC15:1, s. artikel nr 131-1471-2350

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