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

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 mu...

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Veröffentlicht in:	Scientific reports 2019-05, Vol.9 (1), p.7013, Article 7013
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	45/43 692/4017 692/617/375/132/1283 Apolipoprotein E Apolipoproteins E - genetics Basic Medicine Case-Control Studies Cognitive science Dementia Dementia disorders Europe Genetic diversity Genetic Loci Genetic Predisposition to Disease Genetic variance Genome-wide association studies Genome-Wide Association Study - methods Genomes Glucosylceramidase - genetics Heritability Humanities and Social Sciences Humans Iceland Lewy bodies Lewy Body Disease - genetics Medical and Health Sciences Medical Genetics Medicin och hälsovetenskap Medicinsk genetik Medicinska och farmaceutiska grundvetenskaper Mental disorders multidisciplinary Neurodegenerative diseases Neuroscience Neurosciences Neurovetenskaper Norway Nuclear Proteins - genetics Polymorphism, Single Nucleotide Psychosis Science Science (multidisciplinary) Single-nucleotide polymorphism Transcription Factors - genetics
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Zusammenfassung:	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
ISSN:	2045-2322 2045-2322
DOI:	10.1038/s41598-019-43458-2