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: | 2019 |
Verlag/Hrsg.: |
Elsevier Science
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Schlagwörter: | info:eu-repo/classification/ddc/610 / Exome Sequencing / Aged / Alzheimer Disease: genetics / Female / Genetic Association Studies / Genetic Variation: genetics / Hippocampus: metabolism / Humans / Male / Middle Aged / Netherlands / Risk / Whole Exome Sequencing / eIF-2 Kinase: genetics / eIF-2 Kinase: metabolism / EIF2AK3 protein / human / eIF-2 Kinase |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28990650 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://pub.dzne.de/record/140342 |