期刊
GENETICS IN MEDICINE
卷 18, 期 5, 页码 421-430出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2015.117
关键词
Alzheimer disease; clinical implications; genetic risk prediction; monogenic AD; susceptibility loci
资金
- Belgian Science Policy Office Interuniversity Attraction Poles Program
- Alzheimer Research Foundation (SAO-FRA)
- Flemish government-initiated Excellence Program Methusalem (EWI)
- Flemish government-initiated Flanders Impulse Program on Networks for Dementia Research (VIND)
- Research Foundation Flanders (FWO)
- Agency for Innovation by Science and Technology (IWT)
- University of Antwerp Research Fund
- European Commission FP7 Seventh Framework Programme [305299]
- Innovative Medicines Initiative Joint Undertaking [115372]
- European Union's Seventh Framework Programme
- EFPIA companies
The search for the genetic factors contributing to Alzheimer disease (AD) has evolved tremendously throughout the years. It started from the discovery of fully penetrant mutations in Amyloid precursor protein, Presenilin 1, and Presenilin 2 as a cause of autosomal dominant AD, the identification of the epsilon 4 allele of Apolipoprotein E as a strong genetic risk factor for both early-onset and late-onset AD, and evolved to the more recent detection of at least 21 additional genetic risk loci for the genetically complex form of AD emerging from genome-wide association studies and massive parallel resequencing efforts. These advances in AD genetics are positioned in light of the current endeavor directing toward translational research and personalized treatment of AD. We discuss the current state of the art of AD genetics and address the implications and relevance of AD genetics in clinical diagnosis and risk prediction, distinguishing between monogenic and multifactorial AD. Furthermore, the potential and current limitations of molecular reclassification of AD to streamline clinical trials in drug development and biomarker studies are addressed.
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