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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; [...]

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

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  • Medientyp: E-Artikel
  • Titel: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study
  • Beteiligte: 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; [...]
  • Erschienen: Springer Science and Business Media LLC, 2019
  • Erschienen in: Scientific Reports
  • Sprache: Englisch
  • DOI: 10.1038/s41598-019-43458-2
  • ISSN: 2045-2322
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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 <jats:italic>ASH1L/GBA</jats:italic> (Chr1q22) and <jats:italic>APOE ε4</jats:italic> (Chr19) loci were associated with DLB surpassing the genome-wide significance threshold (p &lt; 5 × 10<jats:sup>−8</jats:sup>). One additional genetic locus previously linked to psychosis in Alzheimer’s disease, <jats:italic>ZFPM1</jats:italic> (Chr16q24.2), showed suggestive association with DLB at p-value &lt; 1 × 10<jats:sup>−6</jats:sup>. 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.</jats:p>
  • Zugangsstatus: Freier Zugang