EIF2AK3 variants in Dutch patients with Alzheimer's disease
Next-generation sequencing has contributed to our understanding of the genetics of Alzheimer's disease (AD) and has explained a substantial part of the missing heritability of familial AD. We sequenced 19 exomes from 8 Dutch families with a high AD burden and identified EIF2AK3, encoding for protein kinase RNA-like endoplasmic reticulum kinase (PERK), as a candidate gene. Gene-based burden analysis in a Dutch AD exome cohort containing 547 cases and 1070 controls showed a significant association of EIF2AK3 with AD (OR 1.84 [95% CI 1.07–3.17], p-value 0.03), mainly driven by the variant p.R240H... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2018 |
Schlagwörter: | Alzheimer's disease / EIF2AK3 / Exome sequencing / PERK |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-29035146 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://repub.eur.nl/pub/110955 |