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A comprehensive screening of copy number variability in dementia with Lewy bodies

2019Journal article Open access
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dc.contributor.authorKun-Rodrigues, C
dc.contributor.authorOrme, T
dc.contributor.authorCarmona, S
dc.contributor.authorHernandez, DG
dc.contributor.authorRoss, OA
dc.contributor.authorEicher, JD
dc.contributor.authorShepherd, C
dc.contributor.authorParkkinen, L
dc.contributor.authorDarwent, L
dc.contributor.authorHeckman, MG
dc.contributor.authorScholz, SW
dc.contributor.authorTroncoso, JC
dc.contributor.authorPletnikova, O
dc.contributor.authorDawson, T
dc.contributor.authorRosenthal, L
dc.contributor.authorAnsorge, O
dc.contributor.authorClarimon, J
dc.contributor.authorLleo, A
dc.contributor.authorMorenas-Rodriguez, E
dc.contributor.authorClark, L
dc.contributor.authorHonig, LS
dc.contributor.authorMarder, K
dc.contributor.authorLemstra, A
dc.contributor.authorRogaeva, E
dc.contributor.authorSt George-Hyslop, P
dc.contributor.authorLondos, E
dc.contributor.authorZetterberg, H
dc.contributor.authorBarber, I
dc.contributor.authorBraae, A
dc.contributor.authorBrown, K
dc.contributor.authorMorgan, K
dc.contributor.authorTroakes, C
dc.contributor.authorAl-Sarraj, S
dc.contributor.authorLashley, T
dc.contributor.authorHolton, J
dc.contributor.authorCompta, Y
dc.contributor.authorVan Deerlin, V
dc.contributor.authorSerrano, GE
dc.contributor.authorBeach, TG
dc.contributor.authorLesage, S
dc.contributor.authorGalasko, D
dc.contributor.authorMasliah, E
dc.contributor.authorSantana, I
dc.contributor.authorPastor, P
dc.contributor.authorDiez-Fairen, M
dc.contributor.authorAguilar, M
dc.contributor.authorTienari, PJ
dc.contributor.authorMyllykangas, L
dc.contributor.authorOinas, M
dc.contributor.authorRevesz, T
dc.contributor.authorLees, A
dc.contributor.authorBoeve, BF
dc.contributor.authorPetersen, RC
dc.contributor.authorFerman, TJ
dc.contributor.authorEscott-Price, V
dc.contributor.authorGraff-Radford, N
dc.contributor.authorCairns, NJ
dc.contributor.authorMorris, JC
dc.contributor.authorPickering-Brown, S
dc.contributor.authorMann, D
dc.contributor.authorHalliday, GM
dc.contributor.authorHardy, J
dc.contributor.authorTrojanowski, JQ
dc.contributor.authorDickson, DW
dc.contributor.authorSingleton, A
dc.contributor.authorStone, DJ
dc.contributor.authorGuerreiro, R
dc.contributor.authorBras, J
dc.date.accessioned2019-08-22T12:03:20Z
dc.date.available2019-08-22T12:03:20Z
dc.date.issued2019
dc.description.abstractThe role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNeurobiol Aging. 2019 Mar;75:223.e1-223.e10.pt_PT
dc.identifier.doi10.1016/j.neurobiolaging.2018.10.019pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.4/2247
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectVariações do Número de Cópias de DNApt_PT
dc.subjectPredisposição Genética para Doençapt_PT
dc.subjectDoença por Corpos de Lewypt_PT
dc.subjectProteínas Oncogénicaspt_PT
dc.titleA comprehensive screening of copy number variability in dementia with Lewy bodiespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage223.e10pt_PT
oaire.citation.startPage223.e1-223.e10pt_PT
oaire.citation.volume75pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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