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

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

I: Scientific Reports, Vol. 9, Nr. 1, 7013, 07.05.2019.

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Harvard

Rongve, A, Witoelar, A, Ruiz, A, Athanasiu, L, Abdelnour, C, Clarimon, J, Heilmann-Heimbach, S, Hernández, I, Moreno-Grau, S, de Rojas, I, Morenas-Rodríguez, E, Fladby, T, Sando, SB, Bråthen, G, Blanc, F, Bousiges, O, Lemstra, AW, van Steenoven, I, Londos, E, Almdahl, IS, Pålhaugen, L, Eriksen, JA, Djurovic, S, Stordal, E, Saltvedt, I, Ulstein, ID, Bettella, F, Desikan, RS, Idland, AV, Toft, M, Pihlstrøm, L, Snaedal, J, Tárraga, L, Boada, M, Lleó, A, Stefánsson, H, Stefánsson, K, Ramírez, A, Aarsland, D & Andreassen, OA 2019, 'GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study', Scientific Reports, vol. 9, nr. 1, 7013. https://doi.org/10.1038/s41598-019-43458-2

APA

Rongve, A., Witoelar, A., Ruiz, A., Athanasiu, L., Abdelnour, C., Clarimon, J., ... Andreassen, O. A. (2019). GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study. Scientific Reports, 9(1), [7013]. https://doi.org/10.1038/s41598-019-43458-2

CBE

Rongve A, Witoelar A, Ruiz A, Athanasiu L, Abdelnour C, Clarimon J, Heilmann-Heimbach S, Hernández I, Moreno-Grau S, de Rojas I, Morenas-Rodríguez E, Fladby T, Sando SB, Bråthen G, Blanc F, Bousiges O, Lemstra AW, van Steenoven I, Londos E, Almdahl IS, Pålhaugen L, Eriksen JA, Djurovic S, Stordal E, Saltvedt I, Ulstein ID, Bettella F, Desikan RS, Idland AV, Toft M, Pihlstrøm L, Snaedal J, Tárraga L, Boada M, Lleó A, Stefánsson H, Stefánsson K, Ramírez A, Aarsland D, Andreassen OA. 2019. GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study. Scientific Reports. 9(1). https://doi.org/10.1038/s41598-019-43458-2

MLA

Vancouver

Author

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. / GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study. I: Scientific Reports. 2019 ; Vol. 9, Nr. 1.

RIS

TY - JOUR

T1 - GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

AU - Rongve, Arvid

AU - Witoelar, Aree

AU - Ruiz, Agustín

AU - Athanasiu, Lavinia

AU - Abdelnour, Carla

AU - Clarimon, Jordi

AU - Heilmann-Heimbach, Stefanie

AU - Hernández, Isabel

AU - Moreno-Grau, Sonia

AU - de Rojas, Itziar

AU - Morenas-Rodríguez, Estrella

AU - Fladby, Tormod

AU - Sando, Sigrid B.

AU - Bråthen, Geir

AU - Blanc, Frédéric

AU - Bousiges, Olivier

AU - Lemstra, Afina W.

AU - van Steenoven, Inger

AU - Londos, Elisabet

AU - Almdahl, Ina S.

AU - Pålhaugen, Lene

AU - Eriksen, Jon A.

AU - Djurovic, Srdjan

AU - Stordal, Eystein

AU - Saltvedt, Ingvild

AU - Ulstein, Ingun D.

AU - Bettella, Francesco

AU - Desikan, Rahul S.

AU - Idland, Ane Victoria

AU - Toft, Mathias

AU - Pihlstrøm, Lasse

AU - Snaedal, Jon

AU - Tárraga, Lluís

AU - Boada, Mercè

AU - Lleó, Alberto

AU - Stefánsson, Hreinn

AU - Stefánsson, Kári

AU - Ramírez, Alfredo

AU - Aarsland, Dag

AU - Andreassen, Ole A.

PY - 2019/5/7

Y1 - 2019/5/7

N2 - 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.

AB - 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.

U2 - 10.1038/s41598-019-43458-2

DO - 10.1038/s41598-019-43458-2

M3 - Article

VL - 9

JO - Scientific Reports

T2 - Scientific Reports

JF - Scientific Reports

SN - 2045-2322

IS - 1

M1 - 7013

ER -