000139693 001__ 139693
000139693 005__ 20240618102739.0
000139693 0247_ $$2doi$$a10.1016/S1474-4422(17)30400-3
000139693 0247_ $$2pmid$$apmid:29263008
000139693 0247_ $$2pmc$$apmc:PMC5805394
000139693 0247_ $$2ISSN$$a1474-4422
000139693 0247_ $$2ISSN$$a1474-4465
000139693 0247_ $$2altmetric$$aaltmetric:30509637
000139693 037__ $$aDZNE-2020-06015
000139693 041__ $$aEnglish
000139693 082__ $$a610
000139693 1001_ $$aGuerreiro, Rita$$b0
000139693 245__ $$aInvestigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.
000139693 260__ $$aLondon$$bLancet Publ. Group$$c2018
000139693 264_1 $$2Crossref$$3print$$bElsevier BV$$c2018-01-01
000139693 3367_ $$2DRIVER$$aarticle
000139693 3367_ $$2DataCite$$aOutput Types/Journal article
000139693 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1718699217_13424
000139693 3367_ $$2BibTeX$$aARTICLE
000139693 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000139693 3367_ $$00$$2EndNote$$aJournal Article
000139693 520__ $$aDementia 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.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.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 × 10-48), SNCA (rs7681440; OR 0·73, 0·66-0·81; p=6·39 × 10-10), an GBA (rs35749011; OR 2·55, 1·88-3·46; p=1·78 × 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 × 10-6); further replication will be important. Additionally, we estimate the heritable component of dementia with Lewy bodies to be about 36%.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.The Alzheimer's Society and the Lewy Body Society.
000139693 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0
000139693 542__ $$2Crossref$$i2018-01-01$$uhttps://www.elsevier.com/tdm/userlicense/1.0/
000139693 542__ $$2Crossref$$i2018-06-16$$uhttp://www.elsevier.com/open-access/userlicense/1.0/
000139693 588__ $$aDataset connected to CrossRef, PubMed,
000139693 650_2 $$2MeSH$$aCohort Studies
000139693 650_2 $$2MeSH$$aGenome-Wide Association Study: methods
000139693 650_2 $$2MeSH$$aHumans
000139693 650_2 $$2MeSH$$aLewy Body Disease: genetics
000139693 7001_ $$aRoss, Owen A$$b1
000139693 7001_ $$aKun-Rodrigues, Celia$$b2
000139693 7001_ $$0P:(DE-2719)2812102$$aHernandez, Dena G$$b3$$udzne
000139693 7001_ $$aOrme, Tatiana$$b4
000139693 7001_ $$aEicher, John D$$b5
000139693 7001_ $$aShepherd, Claire E$$b6
000139693 7001_ $$aParkkinen, Laura$$b7
000139693 7001_ $$aDarwent, Lee$$b8
000139693 7001_ $$aHeckman, Michael G$$b9
000139693 7001_ $$aScholz, Sonja W$$b10
000139693 7001_ $$aTroncoso, Juan C$$b11
000139693 7001_ $$aPletnikova, Olga$$b12
000139693 7001_ $$aAnsorge, Olaf$$b13
000139693 7001_ $$aClarimon, Jordi$$b14
000139693 7001_ $$aLleo, Alberto$$b15
000139693 7001_ $$0P:(DE-HGF)0$$aMorenas-Rodriguez, Estrella$$b16
000139693 7001_ $$aClark, Lorraine$$b17
000139693 7001_ $$aHonig, Lawrence S$$b18
000139693 7001_ $$aMarder, Karen$$b19
000139693 7001_ $$aLemstra, Afina$$b20
000139693 7001_ $$aRogaeva, Ekaterina$$b21
000139693 7001_ $$aSt George-Hyslop, Peter$$b22
000139693 7001_ $$aLondos, Elisabet$$b23
000139693 7001_ $$aZetterberg, Henrik$$b24
000139693 7001_ $$aBarber, Imelda$$b25
000139693 7001_ $$aBraae, Anne$$b26
000139693 7001_ $$aBrown, Kristelle$$b27
000139693 7001_ $$aMorgan, Kevin$$b28
000139693 7001_ $$aTroakes, Claire$$b29
000139693 7001_ $$aAl-Sarraj, Safa$$b30
000139693 7001_ $$aLashley, Tammaryn$$b31
000139693 7001_ $$aHolton, Janice$$b32
000139693 7001_ $$aCompta, Yaroslau$$b33
000139693 7001_ $$aVan Deerlin, Vivianna$$b34
000139693 7001_ $$aSerrano, Geidy E$$b35
000139693 7001_ $$aBeach, Thomas G$$b36
000139693 7001_ $$aLesage, Suzanne$$b37
000139693 7001_ $$aGalasko, Douglas$$b38
000139693 7001_ $$aMasliah, Eliezer$$b39
000139693 7001_ $$aSantana, Isabel$$b40
000139693 7001_ $$aPastor, Pau$$b41
000139693 7001_ $$aDiez-Fairen, Monica$$b42
000139693 7001_ $$aAguilar, Miquel$$b43
000139693 7001_ $$aTienari, Pentti J$$b44
000139693 7001_ $$aMyllykangas, Liisa$$b45
000139693 7001_ $$aOinas, Minna$$b46
000139693 7001_ $$aRevesz, Tamas$$b47
000139693 7001_ $$aLees, Andrew$$b48
000139693 7001_ $$aBoeve, Brad F$$b49
000139693 7001_ $$aPetersen, Ronald C$$b50
000139693 7001_ $$aFerman, Tanis J$$b51
000139693 7001_ $$aEscott-Price, Valentina$$b52
000139693 7001_ $$aGraff-Radford, Neill$$b53
000139693 7001_ $$aCairns, Nigel J$$b54
000139693 7001_ $$aMorris, John C$$b55
000139693 7001_ $$aPickering-Brown, Stuart$$b56
000139693 7001_ $$aMann, David$$b57
000139693 7001_ $$aHalliday, Glenda M$$b58
000139693 7001_ $$aHardy, John$$b59
000139693 7001_ $$aTrojanowski, John Q$$b60
000139693 7001_ $$aDickson, Dennis W$$b61
000139693 7001_ $$aSingleton, Andrew$$b62
000139693 7001_ $$aStone, David J$$b63
000139693 7001_ $$0P:(DE-HGF)0$$aBras, Jose$$b64$$eCorresponding author
000139693 77318 $$2Crossref$$3journal-article$$a10.1016/s1474-4422(17)30400-3$$b : Elsevier BV, 2018-01-01$$n1$$p64-74$$tThe Lancet Neurology$$v17$$x1474-4422$$y2018
000139693 773__ $$0PERI:(DE-600)2079704-7$$a10.1016/S1474-4422(17)30400-3$$gVol. 17, no. 1, p. 64 - 74$$n1$$p64-74$$q17:1<64 - 74$$tThe lancet <London> / Neurology$$v17$$x1474-4422$$y2018
000139693 8567_ $$2Pubmed Central$$uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805394
000139693 8564_ $$uhttps://pub.dzne.de/record/139693/files/DZNE-2020-06015_Restricted.pdf
000139693 8564_ $$uhttps://pub.dzne.de/record/139693/files/DZNE-2020-06015_Restricted.pdf?subformat=pdfa$$xpdfa
000139693 909CO $$ooai:pub.dzne.de:139693$$pVDB
000139693 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2812102$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b3$$kDZNE
000139693 9131_ $$0G:(DE-HGF)POF3-345$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lErkrankungen des Nervensystems$$vPopulation Studies and Genetics$$x0
000139693 9141_ $$y2018
000139693 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-09
000139693 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-09
000139693 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-09
000139693 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2022-11-09
000139693 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bLANCET NEUROL : 2021$$d2022-11-09
000139693 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-09
000139693 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2022-11-09
000139693 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2022-11-09
000139693 915__ $$0StatID:(DE-HGF)9950$$2StatID$$aIF >= 50$$bLANCET NEUROL : 2021$$d2022-11-09
000139693 9201_ $$0I:(DE-2719)1210002$$kAG Heutink$$lGenome Biology of Neurodegenerative Diseases$$x0
000139693 980__ $$ajournal
000139693 980__ $$aVDB
000139693 980__ $$aI:(DE-2719)1210002
000139693 980__ $$aUNRESTRICTED