000165612 001__ 165612
000165612 005__ 20230915090625.0
000165612 0247_ $$2pmc$$apmc:PMC9729101
000165612 0247_ $$2doi$$a10.1038/s41588-022-01208-7
000165612 0247_ $$2pmid$$apmid:36411364
000165612 0247_ $$2ISSN$$a1061-4036
000165612 0247_ $$2ISSN$$a1546-1718
000165612 0247_ $$2altmetric$$aaltmetric:138726515
000165612 037__ $$aDZNE-2022-01745
000165612 041__ $$aEnglish
000165612 082__ $$a570
000165612 1001_ $$00000-0002-7688-3087$$aHolstege, Henne$$b0
000165612 245__ $$aExome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
000165612 260__ $$aLondon$$bMacmillan Publishers Limited, part of Springer Nature$$c2022
000165612 3367_ $$2DRIVER$$aarticle
000165612 3367_ $$2DataCite$$aOutput Types/Journal article
000165612 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1673436060_12916
000165612 3367_ $$2BibTeX$$aARTICLE
000165612 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000165612 3367_ $$00$$2EndNote$$aJournal Article
000165612 520__ $$aAlzheimer's disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants2. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals-16,036 AD cases and 16,522 controls. Next to variants in TREM2, SORL1 and ABCA7, we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10. Additionally, the rare-variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential drivers of respective AD-genome-wide association study loci. Variants associated with the strongest effect on AD risk, in particular loss-of-function variants, are enriched in early-onset AD cases. Our results provide additional evidence for a major role for amyloid-β precursor protein processing, amyloid-β aggregation, lipid metabolism and microglial function in AD.
000165612 536__ $$0G:(DE-HGF)POF4-353$$a353 - Clinical and Health Care Research (POF4-353)$$cPOF4-353$$fPOF IV$$x0
000165612 588__ $$aDataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
000165612 650_7 $$2NLM Chemicals$$aABCA1 protein, human
000165612 650_7 $$0EC 3.6.1.-$$2NLM Chemicals$$aAdenosine Triphosphatases
000165612 650_7 $$2NLM Chemicals$$aATP Binding Cassette Transporter 1
000165612 650_7 $$0EC 3.6.1.-$$2NLM Chemicals$$aATP8B4 protein, human
000165612 650_7 $$2NLM Chemicals$$aSORL1 protein, human
000165612 650_2 $$2MeSH$$aHumans
000165612 650_2 $$2MeSH$$aAdenosine Triphosphatases: genetics
000165612 650_2 $$2MeSH$$aAlzheimer Disease: genetics
000165612 650_2 $$2MeSH$$aATP Binding Cassette Transporter 1: genetics
000165612 650_2 $$2MeSH$$aGenome-Wide Association Study
000165612 650_2 $$2MeSH$$aRisk Factors
000165612 650_2 $$2MeSH$$aExosomes: genetics
000165612 7001_ $$00000-0002-9889-3606$$aHulsman, Marc$$b1
000165612 7001_ $$aCharbonnier, Camille$$b2
000165612 7001_ $$aGrenier-Boley, Benjamin$$b3
000165612 7001_ $$00000-0002-8273-8505$$aQuenez, Olivier$$b4
000165612 7001_ $$00000-0003-3239-8415$$aGrozeva, Detelina$$b5
000165612 7001_ $$avan Rooij, Jeroen G J$$b6
000165612 7001_ $$00000-0002-3885-1199$$aSims, Rebecca$$b7
000165612 7001_ $$00000-0002-8658-3790$$aAhmad, Shahzad$$b8
000165612 7001_ $$00000-0002-8944-1771$$aAmin, Najaf$$b9
000165612 7001_ $$00000-0002-5572-8491$$aNorsworthy, Penny J$$b10
000165612 7001_ $$00000-0003-2656-8748$$aDols-Icardo, Oriol$$b11
000165612 7001_ $$aHummerich, Holger$$b12
000165612 7001_ $$aKawalia, Amit$$b13
000165612 7001_ $$00000-0001-9088-234X$$aAmouyel, Philippe$$b14
000165612 7001_ $$aBeecham, Gary W$$b15
000165612 7001_ $$00000-0001-5254-7655$$aBerr, Claudine$$b16
000165612 7001_ $$00000-0002-3409-1110$$aBis, Joshua C$$b17
000165612 7001_ $$aBoland, Anne$$b18
000165612 7001_ $$00000-0002-1432-0078$$aBossù, Paola$$b19
000165612 7001_ $$aBouwman, Femke$$b20
000165612 7001_ $$aBras, Jose$$b21
000165612 7001_ $$aCampion, Dominique$$b22
000165612 7001_ $$00000-0002-9852-5504$$aCochran, J Nicholas$$b23
000165612 7001_ $$aDaniele, Antonio$$b24
000165612 7001_ $$aDartigues, Jean-François$$b25
000165612 7001_ $$00000-0001-8675-7968$$aDebette, Stéphanie$$b26
000165612 7001_ $$aDeleuze, Jean-François$$b27
000165612 7001_ $$aDenning, Nicola$$b28
000165612 7001_ $$aDeStefano, Anita L$$b29
000165612 7001_ $$00000-0001-5533-4225$$aFarrer, Lindsay A$$b30
000165612 7001_ $$00000-0002-9669-5147$$aFernández, Maria Victoria$$b31
000165612 7001_ $$00000-0002-6660-657X$$aFox, Nick C$$b32
000165612 7001_ $$00000-0002-9284-5953$$aGalimberti, Daniela$$b33
000165612 7001_ $$00000-0003-4117-2813$$aGenin, Emmanuelle$$b34
000165612 7001_ $$aGille, Johan J P$$b35
000165612 7001_ $$00000-0001-6649-8364$$aLe Guen, Yann$$b36
000165612 7001_ $$aGuerreiro, Rita$$b37
000165612 7001_ $$00000-0002-4351-4728$$aHaines, Jonathan L$$b38
000165612 7001_ $$aHolmes, Clive$$b39
000165612 7001_ $$00000-0003-0372-8585$$aIkram, M Arfan$$b40
000165612 7001_ $$aIkram, M Kamran$$b41
000165612 7001_ $$0P:(DE-2719)2813349$$aJansen, Iris E$$b42$$udzne
000165612 7001_ $$00000-0003-0416-999X$$aKraaij, Robert$$b43
000165612 7001_ $$aLathrop, Marc$$b44
000165612 7001_ $$aLemstra, Afina W$$b45
000165612 7001_ $$aLleó, Alberto$$b46
000165612 7001_ $$aLuckcuck, Lauren$$b47
000165612 7001_ $$aMannens, Marcel M A M$$b48
000165612 7001_ $$aMarshall, Rachel$$b49
000165612 7001_ $$aMartin, Eden R$$b50
000165612 7001_ $$aMasullo, Carlo$$b51
000165612 7001_ $$aMayeux, Richard$$b52
000165612 7001_ $$aMecocci, Patrizia$$b53
000165612 7001_ $$aMeggy, Alun$$b54
000165612 7001_ $$00000-0003-2533-2530$$aMol, Merel O$$b55
000165612 7001_ $$00000-0002-8217-2396$$aMorgan, Kevin$$b56
000165612 7001_ $$aMyers, Richard M$$b57
000165612 7001_ $$00000-0001-9338-9040$$aNacmias, Benedetta$$b58
000165612 7001_ $$00000-0002-9621-2942$$aNaj, Adam C$$b59
000165612 7001_ $$00000-0002-4378-6838$$aNapolioni, Valerio$$b60
000165612 7001_ $$00000-0001-9880-9788$$aPasquier, Florence$$b61
000165612 7001_ $$00000-0002-7493-8777$$aPastor, Pau$$b62
000165612 7001_ $$00000-0001-7283-8804$$aPericak-Vance, Margaret A$$b63
000165612 7001_ $$00000-0003-4673-2381$$aRaybould, Rachel$$b64
000165612 7001_ $$00000-0001-7751-2280$$aRedon, Richard$$b65
000165612 7001_ $$00000-0002-1148-1562$$aReinders, Marcel J T$$b66
000165612 7001_ $$aRichard, Anne-Claire$$b67
000165612 7001_ $$00000-0003-4321-6090$$aRiedel-Heller, Steffi G$$b68
000165612 7001_ $$00000-0001-9435-9441$$aRivadeneira, Fernando$$b69
000165612 7001_ $$aRousseau, Stéphane$$b70
000165612 7001_ $$aRyan, Natalie S$$b71
000165612 7001_ $$aSaad, Salha$$b72
000165612 7001_ $$00000-0002-6081-8037$$aSanchez-Juan, Pascual$$b73
000165612 7001_ $$aSchellenberg, Gerard D$$b74
000165612 7001_ $$aScheltens, Philip$$b75
000165612 7001_ $$00000-0003-2059-024X$$aSchott, Jonathan M$$b76
000165612 7001_ $$aSeripa, Davide$$b77
000165612 7001_ $$00000-0001-6135-2622$$aSeshadri, Sudha$$b78
000165612 7001_ $$aSie, Daoud$$b79
000165612 7001_ $$aSistermans, Erik A$$b80
000165612 7001_ $$aSorbi, Sandro$$b81
000165612 7001_ $$00000-0002-6077-8725$$avan Spaendonk, Resie$$b82
000165612 7001_ $$00000-0002-7432-4249$$aSpalletta, Gianfranco$$b83
000165612 7001_ $$00000-0002-1413-5091$$aTesi, Niccolo'$$b84
000165612 7001_ $$aTijms, Betty$$b85
000165612 7001_ $$00000-0002-7276-3387$$aUitterlinden, André G$$b86
000165612 7001_ $$00000-0003-1606-8643$$avan der Lee, Sven J$$b87
000165612 7001_ $$aVisser, Pieter Jelle$$b88
000165612 7001_ $$0P:(DE-2719)2000057$$aWagner, Michael$$b89$$udzne
000165612 7001_ $$aWallon, David$$b90
000165612 7001_ $$aWang, Li-San$$b91
000165612 7001_ $$aZarea, Aline$$b92
000165612 7001_ $$aClarimon, Jordi$$b93
000165612 7001_ $$avan Swieten, John C$$b94
000165612 7001_ $$aGreicius, Michael D$$b95
000165612 7001_ $$00000-0001-7274-2634$$aYokoyama, Jennifer S$$b96
000165612 7001_ $$aCruchaga, Carlos$$b97
000165612 7001_ $$aHardy, John$$b98
000165612 7001_ $$0P:(DE-2719)2812825$$aRamirez, Alfredo$$b99$$udzne
000165612 7001_ $$00000-0002-4326-1468$$aMead, Simon$$b100
000165612 7001_ $$00000-0001-8766-6224$$avan der Flier, Wiesje M$$b101
000165612 7001_ $$00000-0002-2374-9204$$avan Duijn, Cornelia M$$b102
000165612 7001_ $$00000-0002-4069-0259$$aWilliams, Julie$$b103
000165612 7001_ $$00000-0001-9391-7800$$aNicolas, Gaël$$b104
000165612 7001_ $$00000-0002-1240-7874$$aBellenguez, Céline$$b105
000165612 7001_ $$00000-0003-0829-7817$$aLambert, Jean-Charles$$b106
000165612 773__ $$0PERI:(DE-600)1494946-5$$a10.1038/s41588-022-01208-7$$gVol. 54, no. 12, p. 1786 - 1794$$n12$$p1786 - 1794$$tNature genetics$$v54$$x1061-4036$$y2022
000165612 7870_ $$0DZNE-2022-01805$$aHolstege, Henne et.al.$$dZenodo, 2022$$iRelatedTo$$r$$tSummary statistics for 'Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease'
000165612 8564_ $$uhttps://pub.dzne.de/record/165612/files/DZNE-2022-01745.pdf$$yOpenAccess
000165612 8564_ $$uhttps://pub.dzne.de/record/165612/files/DZNE-2022-01745.pdf?subformat=pdfa$$xpdfa$$yOpenAccess
000165612 909CO $$ooai:pub.dzne.de:165612$$pdnbdelivery$$pdriver$$pVDB$$popen_access$$popenaire
000165612 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)2813349$$aExternal Institute$$b42$$kExtern
000165612 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)2000057$$aExternal Institute$$b89$$kExtern
000165612 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2812825$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b99$$kDZNE
000165612 9131_ $$0G:(DE-HGF)POF4-353$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vClinical and Health Care Research$$x0
000165612 9141_ $$y2022
000165612 915__ $$0StatID:(DE-HGF)9940$$2StatID$$aIF >= 40$$bNAT GENET : 2021$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bNAT GENET : 2021$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)3003$$2StatID$$aDEAL Nature$$d2022-11-09$$wger
000165612 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)0510$$2StatID$$aOpenAccess
000165612 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2022-11-09
000165612 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2022-11-09
000165612 915__ $$0LIC:(DE-HGF)CCBY4$$2HGFVOC$$aCreative Commons Attribution CC BY 4.0
000165612 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz$$d2022-11-09$$wger
000165612 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-09
000165612 9201_ $$0I:(DE-2719)1011101$$kPatient studies, Bonn$$lPatient studies$$x0
000165612 980__ $$ajournal
000165612 980__ $$aVDB
000165612 980__ $$aI:(DE-2719)1011101
000165612 980__ $$aUNRESTRICTED
000165612 9801_ $$aFullTexts