Genomics of Alzheimer's disease: Value of high-throughput genomic technologies to dissect its etiology. Issue 6 (December 2016)

• Record Type: Journal Article
• Authors: Tosto, Giuseppe; Reitz, Christiane
• Is Part Of: Molecular and cellular probes. Volume 30:Issue 6(2016)
• Page Start: 397
• Page End: 403
• Publication Date: 2016-12
• Subjects: Genetics -- Genome-wide association study -- Alzheimer's disease -- High-throughput technologies -- Rare variants -- Epidemiology of neurodegenerative disorders; Molecular probes -- Diagnostic use -- Periodicals; Pathology, Cellular -- Technique -- Periodicals; Cell Biology -- Periodicals; Molecular Biology -- Periodicals; Sondes moléculaires -- Utilisation diagnostique -- Périodiques; Cytopathologie -- Technique -- Périodiques; 572
• DOI: 10.1016/j.mcp.2016.09.001
• Languages: English
• ISSNs: 0890-8508

Abstract

Abstract: Late-onset Alzheimer's disease (AD), the most common neurodegenerative disorder in western countries, is clinically defined by progressive worsening in cognitive functions along with function and behavioral impairment. This ultimately results in complete incapacity and death. AD is a clinically and pathologically heterogeneous disease, and this is reflected by the numerous genetic findings that point to several diverse molecular mechanisms and pathways. Linkage, genome-wide association and next-generation sequencing studies have led to the identification of more than 20 novel susceptibility loci for AD. While these observations have significantly increased the knowledge of pathogenic mechanisms and potential therapeutic targets, a large part of the genetic component underlying AD is still unexplained. This review will summarize and discuss the major genetic findings and their potential impact on AD diagnosis and prediction of prognosis. Highlights: Late-onset Alzheimer's disease (AD) is the most common neurodegenerative disorder in western countries. AD is a heterogeneous disease, mirrored by numerous genetic findings linked to diverse molecular mechanisms and pathways. Linkage, genome-wide association and next-generation sequencing studies have led to the identification of over 30 loci. This review discusses the impact of these advances and gives directions for future research.