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GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.

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Authors
Rongve, Arvid
Witoelar, Aree
Ruiz, Agustín
Athanasiu, Lavinia
Abdelnour, Carla
Clarimon, Jordi
Heilmann-Heimbach, Stefanie
Hernández, Isabel
Moreno-Grau, Sonia
de Rojas, Itziar
Morenas-Rodríguez, Estrella
Fladby, Tormod
Sando, Sigrid B
Bråthen, Geir
Blanc, Frédéric
Bousiges, Olivier
Lemstra, Afina W
van Steenoven, Inger
Londos, Elisabet
Almdahl, Ina S
Pålhaugen, Lene
Eriksen, Jon A
Djurovic, Srdjan
Stordal, Eystein
Saltvedt, Ingvild
Ulstein, Ingun D
Bettella, Francesco
Desikan, Rahul S
Idland, Ane-Victoria
Toft, Mathias
Pihlstrøm, Lasse
Snaedal, Jon
Tárraga, Lluís
Boada, Mercè
Lleó, Alberto
Stefánsson, Hreinn
Stefánsson, Kári
Ramírez, Alfredo
Aarsland, Dag
Andreassen, Ole A
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Issue Date
2019-05-07

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GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study. 2019, 9(1):7013 Sci Rep
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 ε4 (Chr19) loci were associated with DLB surpassing the genome-wide significance threshold (p < 5 × 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 × 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.
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To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Download
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https://www.nature.com/articles/s41598-019-43458-2
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504850/
ae974a485f413a2113503eed53cd6c53
10.1038/s41598-019-43458-2
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