Sökning: onr:"swepub:oai:gup.ub.gu.se/202049" > Genetic analysis im...
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000 | 05460naa a2200889 4500 | |
001 | oai:gup.ub.gu.se/202049 | |
003 | SwePub | |
008 | 240528s2014 | |||||||||||000 ||eng| | |
009 | oai:lup.lub.lu.se:0368d600-7e27-4d26-95e8-35d4379ea189 | |
024 | 7 | a https://gup.ub.gu.se/publication/2020492 URI |
024 | 7 | a https://doi.org/10.1093/hmg/ddu3342 DOI |
024 | 7 | a https://lup.lub.lu.se/record/45236732 URI |
040 | a (SwePub)gud (SwePub)lu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Bras, Jose4 aut |
245 | 1 0 | a Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. |
264 | c 2014-06-27 | |
264 | 1 | b Oxford University Press (OUP),c 2014 |
520 | a Clinical and neuropathological similarities between dementia with Lewy bodies (DLB), Parkinson's and Alzheimer's diseases (PD and AD, respectively) suggest that these disorders may share etiology. To test this hypothesis, we have performed an association study of 54 genomic regions, previously implicated in PD or AD, in a large cohort of DLB cases and controls. The cohort comprised 788 DLB cases and 2624 controls. To minimize the issue of potential misdiagnosis, we have also performed the analysis including only neuropathologically proven DLB cases (667 cases). The results show that the APOE is a strong genetic risk factor for DLB, confirming previous findings, and that the SNCA and SCARB2 loci are also associated after a study-wise Bonferroni correction, although these have a different association profile than the associations reported for the same loci in PD. We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease. These results indicate that DLB has a unique genetic risk profile when compared with the two most common neurodegenerative diseases and that the lysosome may play an important role in the etiology of this disorder. We make all these data available. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a Guerreiro, Rita4 aut |
700 | 1 | a Darwent, Lee4 aut |
700 | 1 | a Parkkinen, Laura4 aut |
700 | 1 | a Ansorge, Olaf4 aut |
700 | 1 | a Escott-Price, Valentina4 aut |
700 | 1 | a Hernandez, Dena G4 aut |
700 | 1 | a Nalls, Michael A4 aut |
700 | 1 | a Clark, Lorraine N4 aut |
700 | 1 | a Honig, Lawrence S4 aut |
700 | 1 | a Marder, Karen4 aut |
700 | 1 | a van der Flier, Wiesje M4 aut |
700 | 1 | a Lemstra, Afina4 aut |
700 | 1 | a Scheltens, Philip4 aut |
700 | 1 | a Rogaeva, Ekaterina4 aut |
700 | 1 | a St George-Hyslop, Peter4 aut |
700 | 1 | a Londos, Elisabetu Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups4 aut0 (Swepub:lu)pski-elo |
700 | 1 | a Zetterberg, Henrik,d 1973u Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups4 aut0 (Swepub:lu)med-hiz |
700 | 1 | a Ortega-Cubero, Sara4 aut |
700 | 1 | a Pastor, Pau4 aut |
700 | 1 | a Ferman, Tanis J4 aut |
700 | 1 | a Graff-Radford, Neill R4 aut |
700 | 1 | a Ross, Owen A4 aut |
700 | 1 | a Barber, Imelda4 aut |
700 | 1 | a Braae, Anne4 aut |
700 | 1 | a Brown, Kristelle4 aut |
700 | 1 | a Morgan, Kevin4 aut |
700 | 1 | a Maetzler, Walter4 aut |
700 | 1 | a Berg, Daniela4 aut |
700 | 1 | a Troakes, Claire4 aut |
700 | 1 | a Al-Sarraj, Safa4 aut |
700 | 1 | a Lashley, Tammaryn4 aut |
700 | 1 | a Compta, Yaroslau4 aut |
700 | 1 | a Revesz, Tamas4 aut |
700 | 1 | a Lees, Andrew4 aut |
700 | 1 | a Cairns, Nigel4 aut |
700 | 1 | a Halliday, Glenda M4 aut |
700 | 1 | a Mann, David4 aut |
700 | 1 | a Pickering-Brown, Stuart4 aut |
700 | 1 | a Dickson, Dennis W4 aut |
700 | 1 | a Singleton, Andrew4 aut |
700 | 1 | a Hardy, John4 aut |
700 | 1 | a Compta, Yarko4 aut |
710 | 2 | a Klinisk minnesforskningb Forskargrupper vid Lunds universitet4 org |
773 | 0 | t Human molecular geneticsd : Oxford University Press (OUP)g 23:23, s. 6139-6146q 23:23<6139-6146x 1460-2083x 0964-6906 |
856 | 4 | u https://academic.oup.com/hmg/article-pdf/23/23/6139/17261047/ddu334.pdf |
856 | 4 | u https://portal.research.lu.se/files/1675939/5265863x primaryx freey FULLTEXT |
856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/24973356?dopt=Abstracty FULLTEXT |
856 | 4 | u http://dx.doi.org/10.1093/hmg/ddu334y FULLTEXT |
856 | 4 8 | u https://gup.ub.gu.se/publication/202049 |
856 | 4 8 | u https://doi.org/10.1093/hmg/ddu334 |
856 | 4 8 | u https://lup.lub.lu.se/record/4523673 |
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