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

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Bibtex

@article{63872b5d9c7d491abbb6c147d9a4de44,
title = "GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study",
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.",
author = "Arvid Rongve and Aree Witoelar and Agust{\'i}n Ruiz and Lavinia Athanasiu and Carla Abdelnour and Jordi Clarimon and Stefanie Heilmann-Heimbach and Isabel Hern{\'a}ndez and Sonia Moreno-Grau and {de Rojas}, Itziar and Estrella Morenas-Rodr{\'i}guez and Tormod Fladby and Sando, {Sigrid B.} and Geir Br{\aa}then and Fr{\'e}d{\'e}ric Blanc and Olivier Bousiges and Lemstra, {Afina W.} and {van Steenoven}, Inger and Elisabet Londos and Almdahl, {Ina S.} and Lene P{\aa}lhaugen and Eriksen, {Jon A.} and Srdjan Djurovic and Eystein Stordal and Ingvild Saltvedt and Ulstein, {Ingun D.} and Francesco Bettella and Desikan, {Rahul S.} and Idland, {Ane Victoria} and Mathias Toft and Lasse Pihlstr{\o}m and Jon Snaedal and Llu{\'i}s T{\'a}rraga and Merc{\`e} Boada and Alberto Lle{\'o} and Hreinn Stef{\'a}nsson and K{\'a}ri Stef{\'a}nsson and Alfredo Ram{\'i}rez and Dag Aarsland and Andreassen, {Ole A.}",
year = "2019",
month = "5",
day = "7",
doi = "10.1038/s41598-019-43458-2",
language = "English",
volume = "9",
journal = "Scientific Reports",
issn = "2045-2322",
publisher = "Nature Publishing Group",
number = "1",

}