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GBA and APOE ?4 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 ?4 (Chr19) loci were associated with DLB surpassing the genome-wide significance threshold (p?

SUBMITTER: Rongve A 

PROVIDER: S-EPMC6504850 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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

Rongve Arvid A   Witoelar Aree A   Ruiz Agustín A   Athanasiu Lavinia L   Abdelnour Carla C   Clarimon Jordi J   Heilmann-Heimbach Stefanie S   Hernández Isabel I   Moreno-Grau Sonia S   de Rojas Itziar I   Morenas-Rodríguez Estrella E   Fladby Tormod T   Sando Sigrid B SB   Bråthen Geir G   Blanc Frédéric F   Bousiges Olivier O   Lemstra Afina W AW   van Steenoven Inger I   Londos Elisabet E   Almdahl Ina S IS   Pålhaugen Lene L   Eriksen Jon A JA   Djurovic Srdjan S   Stordal Eystein E   Saltvedt Ingvild I   Ulstein Ingun D ID   Bettella Francesco F   Desikan Rahul S RS   Idland Ane-Victoria AV   Toft Mathias M   Pihlstrøm Lasse L   Snaedal Jon J   Tárraga Lluís L   Boada Mercè M   Lleó Alberto A   Stefánsson Hreinn H   Stefánsson Kári K   Ramírez Alfredo A   Aarsland Dag D   Andreassen Ole A OA  

Scientific reports 20190507 1

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 a  ...[more]

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