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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 10235naa a2201261 4500 | |
| 001 | oai:gup.ub.gu.se/263508 | |
| 003 | SwePub | |
| 008 | 240528s2018 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:3db91543-ef1e-4af9-8603-3892a05ee40e | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2635082 URI |
| 024 | 7 | a https://doi.org/10.1016/S1474-4422(17)30400-32 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/3db91543-ef1e-4af9-8603-3892a05ee40e2 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 Guerreiro, R.u University of Aveiro,University College London4 aut |
| 245 | 1 0 | a Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study |
| 264 | 1 | c 2018 |
| 520 | a Background Dementia with Lewy bodies is the second most common form of dementia in elderly people but has been overshadowed in the research field, partly because of similarities between dementia with Lewy bodies, Parkinson's disease, and Alzheimer's disease. So far, to our knowledge, no large-scale genetic study of dementia with Lewy bodies has been done. To better understand the genetic basis of dementia with Lewy bodies, we have done a genome-wide association study with the aim of identifying genetic risk factors for this disorder. Methods In this two-stage genome-wide association study, we collected samples from white participants of European ancestry who had been diagnosed with dementia with Lewy bodies according to established clinical or pathological criteria. In the discovery stage (with the case cohort recruited from 22 centres in ten countries and the controls derived from two publicly available database of Genotypes and Phenotypes studies [phs000404.v1.p1 and phs000982.v1.p1] in the USA), we performed genotyping and exploited the recently established Haplotype Reference Consortium panel as the basis for imputation. Pathological samples were ascertained following autopsy in each individual brain bank, whereas clinical samples were collected after participant examination. There was no specific timeframe for collection of samples. We did association analyses in all participants with dementia with Lewy bodies, and also only in participants with pathological diagnosis. In the replication stage, we performed genotyping of significant and suggestive results from the discovery stage. Lastly, we did a meta-analysis of both stages under a fixed-effects model and used logistic regression to test for association in each stage. Findings This study included 1743 patients with dementia with Lewy bodies (1324 with pathological diagnosis) and 4454 controls (1216 patients with dementia with Lewy bodies vs 3791 controls in the discovery stage; 527 vs 663 in the replication stage). Results confirm previously reported associations: APOE (rs429358; odds ratio [OR] 2.40, 95% CI 2.14-2.70; p=1.05 x 10-48), SNCA (rs7681440; OR 0.73, 0.66-0.81; p=6.39 x 10(-10)), and GBA (rs35749011; OR 2.55, 1.88-3.46; p=1.78 x 10(-9)). They also provide some evidence for a novel candidate locus, namely CNTN1 (rs7314908; OR 1.51, 1.27-1.79; p=2.32 x 10(-6)); further replication will be important. Additionally, we estimate the heritable component of dementia with Lewy bodies to be about 36%. Interpretation Despite the small sample size for a genome-wide association study, and acknowledging the potential biases from ascertaining samples from multiple locations, we present the most comprehensive and well powered genetic study in dementia with Lewy bodies so far. These data show that common genetic variability has a role in the disease. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng |
| 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 |
| 653 | a genotype imputation | |
| 653 | a parkinsons-disease | |
| 653 | a alzheimers-disease | |
| 653 | a risk | |
| 653 | a mutations | |
| 653 | a protein | |
| 653 | a heritability | |
| 653 | a consortium | |
| 653 | a haplotypes | |
| 653 | a pathology | |
| 653 | a Neurosciences & Neurology | |
| 700 | 1 | a Ross, O. A.u Mayo Clinic Florida,University of Oxford4 aut |
| 700 | 1 | a Kun-Rodrigues, C.u University College London4 aut |
| 700 | 1 | a Hernandez, D. G.u German Center for Neurodegenerative Diseases (DZNE), Bonn,National Institutes of Health, United States,University of California, San Diego,Veterans Health Administration4 aut |
| 700 | 1 | a Orme, T.u University College London4 aut |
| 700 | 1 | a Eicher, J. D.u Merck Sharp And Dohme Corp., US4 aut |
| 700 | 1 | a Shepherd, C. E.u University of New South Wales4 aut |
| 700 | 1 | a Parkkinen, L.u University of Oxford4 aut |
| 700 | 1 | a Darwent, L.u University College London4 aut |
| 700 | 1 | a Heckman, M. G.u Mayo Clinic Florida4 aut |
| 700 | 1 | a Scholz, S. W.u National Institutes of Health, United States4 aut |
| 700 | 1 | a Troncoso, J. C.u Johns Hopkins University School of Medicine,CIBER Enfermedades Neurodegenerativas (CIBERNED),Autonomous University of Barcelona4 aut |
| 700 | 1 | a Pletnikova, O.u Johns Hopkins University School of Medicine4 aut |
| 700 | 1 | a Ansorge, O.4 aut |
| 700 | 1 | a Clarimon, J.u Washington University in St. Louis4 aut |
| 700 | 1 | a Lleo, A.u Autonomous University of Barcelona,CIBER Enfermedades Neurodegenerativas (CIBERNED)4 aut |
| 700 | 1 | a Morenas-Rodriguez, E.u Autonomous University of Barcelona,CIBER Enfermedades Neurodegenerativas (CIBERNED)4 aut |
| 700 | 1 | a Clark, L.u Columbia University4 aut |
| 700 | 1 | a Honig, L. S.u Columbia University,Pitié-Salpêtrière University Hospital4 aut |
| 700 | 1 | a Marder, K.u Columbia University4 aut |
| 700 | 1 | a Lemstra, A.u Amsterdam UMC - Vrije Universiteit Amsterdam4 aut |
| 700 | 1 | a Rogaeva, E.u University of Toronto4 aut |
| 700 | 1 | a St George-Hyslop, P.u University of Cambridge,University of Toronto,Mutua De Terrassa Hospital,Autonomous University of Barcelona4 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 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 College London,Sahlgrenska University Hospital,Sahlgrenska Academy4 aut0 (Swepub:lu)med-hiz |
| 700 | 1 | a Barber, I.u University of Nottingham4 aut |
| 700 | 1 | a Braae, A.u University of Nottingham4 aut |
| 700 | 1 | a Brown, K.u University of Nottingham4 aut |
| 700 | 1 | a Morgan, K.u University of Nottingham4 aut |
| 700 | 1 | a Troakes, C.u King's College London4 aut |
| 700 | 1 | a Al-Sarraj, S.u King's College London4 aut |
| 700 | 1 | a Lashley, T.u University College London4 aut |
| 700 | 1 | a Holton, J.u University College London4 aut |
| 700 | 1 | a Compta, Y.u University College London,University of Barcelona4 aut |
| 700 | 1 | a Van Deerlin, V.u University of Pennsylvania4 aut |
| 700 | 1 | a Serrano, G. E.u Banner Sun Health Research Institute4 aut |
| 700 | 1 | a Beach, T. G.u Banner Sun Health Research Institute4 aut |
| 700 | 1 | a Lesage, S.4 aut |
| 700 | 1 | a Galasko, D.4 aut |
| 700 | 1 | a Masliah, E.u National Institutes of Health, United States4 aut |
| 700 | 1 | a Santana, I.u University of Coimbra4 aut |
| 700 | 1 | a Pastor, P.4 aut |
| 700 | 1 | a Diez-Fairen, M.u Autonomous University of Barcelona,Mutua De Terrassa Hospital4 aut |
| 700 | 1 | a Aguilar, M.u Mutua De Terrassa Hospital,Autonomous University of Barcelona4 aut |
| 700 | 1 | a Tienari, P. J.u Helsinki University Central Hospital,University of Helsinki4 aut |
| 700 | 1 | a Myllykangas, L.u University of Helsinki Haartman Institute,Helsinki University Central Hospital4 aut |
| 700 | 1 | a Oinas, M.u University of Helsinki,Helsinki University Central Hospital4 aut |
| 700 | 1 | a Revesz, T.u University College London4 aut |
| 700 | 1 | a Lees, A.u University College London4 aut |
| 700 | 1 | a Boeve, B. F.u Mayo Clinic Minnesota4 aut |
| 700 | 1 | a Petersen, R. C.u Mayo Clinic Minnesota4 aut |
| 700 | 1 | a Ferman, T. J.u Mayo Clinic Florida4 aut |
| 700 | 1 | a Escott-Price, V.u Cardiff University4 aut |
| 700 | 1 | a Graff-Radford, N.u Mayo Clinic Florida4 aut |
| 700 | 1 | a Cairns, N. J.u Washington University in St. Louis4 aut |
| 700 | 1 | a Morris, J. C.4 aut |
| 700 | 1 | a Pickering-Brown, S.u University of Manchester4 aut |
| 700 | 1 | a Mann, D.u University of Manchester4 aut |
| 700 | 1 | a Halliday, G. M.u University of Sydney,University of New South Wales4 aut |
| 700 | 1 | a Hardy, J.u University College London4 aut |
| 700 | 1 | a Trojanowski, J. Q.u University of Pennsylvania4 aut |
| 700 | 1 | a Dickson, D. W.u Mayo Clinic Florida4 aut |
| 700 | 1 | a Singleton, A.u National Institutes of Health, United States4 aut |
| 700 | 1 | a Stone, D. J.u Merck Sharp And Dohme Corp., US4 aut |
| 700 | 1 | a Bras, J.u University of Aveiro,University College London4 aut |
| 710 | 2 | a University of Aveirob University College London4 org |
| 773 | 0 | t Lancet Neurologyg 17:1, s. 64-74q 17:1<64-74x 1474-4422 |
| 856 | 4 | u http://dx.doi.org/10.1016/S1474-4422(17)30400-3y FULLTEXT |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/263508 |
| 856 | 4 8 | u https://doi.org/10.1016/S1474-4422(17)30400-3 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/3db91543-ef1e-4af9-8603-3892a05ee40e |
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- Ross, O. A.
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- Hernandez, D. G.
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- Shepherd, C. E.
- Parkkinen, L.
- Darwent, L.
- Heckman, M. G.
- Scholz, S. W.
- Troncoso, J. C.
- Pletnikova, O.
- Ansorge, O.
- Clarimon, J.
- Lleo, A.
- Morenas-Rodrigue ...
- Clark, L.
- Honig, L. S.
- Marder, K.
- Lemstra, A.
- Rogaeva, E.
- St George-Hyslop ...
- Londos, Elisabet
- Zetterberg, Henr ...
- Barber, I.
- Braae, A.
- Brown, K.
- Morgan, K.
- Troakes, C.
- Al-Sarraj, S.
- Lashley, T.
- Holton, J.
- Compta, Y.
- Van Deerlin, V.
- Serrano, G. E.
- Beach, T. G.
- Lesage, S.
- Galasko, D.
- Masliah, E.
- Santana, I.
- Pastor, P.
- Diez-Fairen, M.
- Aguilar, M.
- Tienari, P. J.
- Myllykangas, L.
- Oinas, M.
- Revesz, T.
- Lees, A.
- Boeve, B. F.
- Petersen, R. C.
- Ferman, T. J.
- Escott-Price, V.
- Graff-Radford, N ...
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