Rongve, Arvid, Witoelar, Aree, Ruiz, Agustin, Athanasiu, Lavinia, Abdelnour, Carla ORCID: 0000-0002-7636-9758, Clarimon, Jordi, Heilmann-Heimbach, Stefanie, Hernandez, Isabel, Moreno-Grau, Sonia, de Rojas, Itziar ORCID: 0000-0002-2148-381X, Morenas-Rodriguez, Estrella, Fladby, Tormod ORCID: 0000-0002-9984-9797, Sando, Sigrid B., Brathen, Geir, Blanc, Frederic ORCID: 0000-0002-6714-3247, Bousiges, Olivier, Lemstra, Afina W., van Steenoven, Inger, Londos, Elisabet, Almdahl, Ina S., Palhaugen, Lene, Eriksen, Jon A., Djurovic, Srdjan, Stordal, Eystein, Saltvedt, Ingvild, Ulstein, Ingun D., Bettella, Francesco, Desikan, Rahul S., Idland, Ane-Victoria, Toft, Mathias, Pihlstrom, Lasse, Snaedal, Jon, Tarraga, Lluis, Boada, Merce, Lleo, Alberto, Stefansson, Hreinn, Stefansson, Kari, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Aarsland, Dag ORCID: 0000-0001-6314-216X and Andreassen, Ole A. (2019). GBA and APOE epsilon 4 associate with sporadic dementia with Lewy bodies in European genome wide association study. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Full text not available from this repository.

Abstract

Dementia with Lewy Bodies (DLB) is a common neurodegenerative disorder with poor prognosis and mainly unknown pathophysiology. Heritability estimates exceed 30% but few genetic risk variants have been identified. Here we investigated common genetic variants associated with DLB in a large European multisite sample. We performed a genome wide association study in Norwegian and European cohorts of 720 DLB cases and 6490 controls and included 19 top-associated single-nucleotide polymorphisms in an additional cohort of 108 DLB cases and 75545 controls from Iceland. Overall the study included 828 DLB cases and 82035 controls. Variants in the ASH1L/GBA (Chr1q22) and APOE epsilon 4 (Chr19) loci were associated with DLB surpassing the genome-wide significance threshold (p < 5 x 10(-8)). One additional genetic locus previously linked to psychosis in Alzheimer's disease, ZFPM1 (Chr16q24.2), showed suggestive association with DLB at p-value < 1 x 10(-6). We report two susceptibility loci for DLB at genome-wide significance, providing insight into etiological factors. These findings highlight the complex relationship between the genetic architecture of DLB and other neurodegenerative disorders.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Rongve, ArvidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Witoelar, AreeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ruiz, AgustinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Athanasiu, LaviniaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Abdelnour, CarlaUNSPECIFIEDorcid.org/0000-0002-7636-9758UNSPECIFIED
Clarimon, JordiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heilmann-Heimbach, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hernandez, IsabelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moreno-Grau, SoniaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Rojas, ItziarUNSPECIFIEDorcid.org/0000-0002-2148-381XUNSPECIFIED
Morenas-Rodriguez, EstrellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fladby, TormodUNSPECIFIEDorcid.org/0000-0002-9984-9797UNSPECIFIED
Sando, Sigrid B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brathen, GeirUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blanc, FredericUNSPECIFIEDorcid.org/0000-0002-6714-3247UNSPECIFIED
Bousiges, OlivierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lemstra, Afina W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Steenoven, IngerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Londos, ElisabetUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Almdahl, Ina S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Palhaugen, LeneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eriksen, Jon A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Djurovic, SrdjanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stordal, EysteinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Saltvedt, IngvildUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ulstein, Ingun D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bettella, FrancescoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Desikan, Rahul S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Idland, Ane-VictoriaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Toft, MathiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pihlstrom, LasseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Snaedal, JonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tarraga, LluisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boada, MerceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lleo, AlbertoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stefansson, HreinnUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stefansson, KariUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ramirez, AlfredoUNSPECIFIEDorcid.org/0000-0003-4991-763XUNSPECIFIED
Aarsland, DagUNSPECIFIEDorcid.org/0000-0001-6314-216XUNSPECIFIED
Andreassen, Ole A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-148509
DOI: 10.1038/s41598-019-43458-2
Journal or Publication Title: Sci Rep
Volume: 9
Date: 2019
Publisher: NATURE PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 2045-2322
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
DISEASE; RISK; MUTATIONS; DIAGNOSIS; ETIOLOGY; PEOPLE; E326KMultiple languages
Multidisciplinary SciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14850

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item