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FältnamnIndikatorerMetadata
00008887naa a2200733 4500
001oai:research.chalmers.se:2d941a9b-b39d-4428-9c25-196394ec44c9
003SwePub
008171007s2014 | |||||||||||000 ||eng|
009oai:gup.ub.gu.se/208363
009oai:DiVA.org:liu-114256
0247 a https://research.chalmers.se/publication/2083632 URI
0247 a https://doi.org/10.1186/s12881-014-0131-42 DOI
0247 a https://gup.ub.gu.se/publication/2083632 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1142562 URI
040 a (SwePub)cthd (SwePub)gud (SwePub)liu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a von Otter, Malin,d 1978u Gothenburg 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, Sweden4 aut0 (Swepub:gu)xamalv
2451 0a Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease: a multicenter study
264 c 2014-12-12
264 1b Springer Science and Business Media LLC,c 2014
338 a electronic2 rdacarrier
500 a 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
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a Nrf2
653 a Haplotype
653 a Multicenter
653 a PD
653 a Parkinson s disease
653 a Risk factor
653 a Meta-analysis
653 a SNP
653 a NFE2L2
653 a Parkinson s disease; PD; Nrf2; NFE2L2; Meta-analysis; Multicenter; SNP; Haplotype; Risk factor
7001 a Bergström, Petrau Gothenburg 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, Sweden4 aut0 (Swepub:gu)xbpeta
7001 a Quattrone, Aldou Consiglo Nazionale Delle Richerche,Universita degli studi Magna Graecia di Catanzaro,Magna Græcia University,Magna Graecia University of Catanzaro, Italy; CNR, Italy4 aut
7001 a De Marco, Elvirau Consiglo Nazionale Delle Richerche,CNR, Italy4 aut
7001 a Annesi, Graziau Consiglo Nazionale Delle Richerche,CNR, Italy4 aut
7001 a Söderkvist, Peteru Östergötlands Läns Landsting,Linköpings universitet,Avdelningen för cellbiologi,Hälsouniversitetet,Klinisk patologi och klinisk genetik4 aut0 (Swepub:liu)petso43
7001 a Wettinger, Stephanieu University of Malta,University of Malta, Malta4 aut
7001 a Drozdzik, Mareku Pomeranian Medical University, Poland4 aut
7001 a Bialecka, Monikau Pomeranian Medical University, Poland4 aut
7001 a Nissbrandt, Hans,d 1952u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology,University of Gothenburg, Sweden4 aut0 (Swepub:gu)xnisha
7001 a Klein, Christineu Universitaet Zu Lübeck,Medical University of Lubeck, Germany4 aut
7001 a Nilsson, Michael,d 1962u Gothenburg 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, Australia4 aut0 (Swepub:gu)xnimic
7001 a Hammarsten, Olau Gothenburg 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, Sweden4 aut0 (Swepub:gu)xhamol
7001 a Nilsson, Staffan,d 1956u Gothenburg University,Göteborgs universitet,Institutionen för matematiska vetenskaper, matematisk statistik,Department of Mathematical Sciences, Mathematical Statistics,Chalmers, Sweden4 aut0 (Swepub:gu)xnista
7001 a Zetterberg, Henrik,d 1973u Gothenburg 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, England4 aut0 (Swepub:gu)xzethe
7102 a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi4 org
7730 t BMC Medical Geneticsd : Springer Science and Business Media LLCg 15:1, s. artikel nr 131-q 15:1<artikel nr 131-x 1471-2350
8564 u http://publications.lib.chalmers.se/records/fulltext/208363/local_208363.pdfx primaryx freey FULLTEXT
8564 u https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-014-0131-4
8564 u https://gup.ub.gu.se/publication/208363x primaryx freey FULLTEXT
8564 u https://liu.diva-portal.org/smash/get/diva2:788614/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://research.chalmers.se/publication/208363
8564 8u https://doi.org/10.1186/s12881-014-0131-4
8564 8u https://gup.ub.gu.se/publication/208363
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-114256

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